example_annotated_maf.csv

,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,HGVSc,HGVSp,HGVSp_Short,Transcript_ID,Exon_Number,t_depth,t_ref_count,t_alt_count,n_depth,n_ref_count,n_alt_count,all_effects,Allele,Gene,Feature,Feature_type,Consequence,cDNA_position,CDS_position,Protein_position,Amino_acids,Codons,Existing_variation,ALLELE_NUM,DISTANCE,STRAND,SYMBOL,SYMBOL_SOURCE,HGNC_ID,BIOTYPE,CANONICAL,CCDS,ENSP,SWISSPROT,TREMBL,UNIPARC,RefSeq,SIFT,PolyPhen,EXON,INTRON,DOMAINS,GMAF,AFR_MAF,AMR_MAF,ASN_MAF,EAS_MAF,EUR_MAF,SAS_MAF,AA_MAF,EA_MAF,CLIN_SIG,SOMATIC,PUBMED,MOTIF_NAME,MOTIF_POS,HIGH_INF_POS,MOTIF_SCORE_CHANGE,IMPACT,PICK,VARIANT_CLASS,TSL,HGVS_OFFSET,PHENO,MINIMISED,ExAC_AF,ExAC_AF_AFR,ExAC_AF_AMR,ExAC_AF_EAS,ExAC_AF_FIN,ExAC_AF_NFE,ExAC_AF_OTH,ExAC_AF_SAS,GENE_PHENO,FILTER,COSMIC,CENTERS,CONTEXT,DBVS,NCALLERS,aaref,aaalt,rs_dbSNP,hg19_chr,hg19_pos(1-based),hg18_chr,hg18_pos(1-based),aapos,genename,Ensembl_geneid,Ensembl_transcriptid,Ensembl_proteinid,Uniprot_acc,Uniprot_entry,HGVSc_ANNOVAR,HGVSp_ANNOVAR,HGVSc_snpEff,HGVSp_snpEff,HGVSc_VEP,HGVSp_VEP,APPRIS,GENCODE_basic,TSL_from_dbNSFP,VEP_canonical,cds_strand,refcodon,codonpos,codon_degeneracy,Ancestral_allele,AltaiNeandertal,Denisova,VindijiaNeandertal,ChagyrskayaNeandertal,SIFT_score,SIFT_converted_rankscore,SIFT_pred,SIFT4G_score,SIFT4G_converted_rankscore,SIFT4G_pred,Polyphen2_HDIV_score,Polyphen2_HDIV_rankscore,Polyphen2_HDIV_pred,Polyphen2_HVAR_score,Polyphen2_HVAR_rankscore,Polyphen2_HVAR_pred,LRT_score,LRT_converted_rankscore,LRT_pred,LRT_Omega,MutationTaster_score,MutationTaster_converted_rankscore,MutationTaster_pred,MutationTaster_model,MutationTaster_AAE,MutationAssessor_score,MutationAssessor_rankscore,MutationAssessor_pred,FATHMM_score,FATHMM_converted_rankscore,FATHMM_pred,PROVEAN_score,PROVEAN_converted_rankscore,PROVEAN_pred,VEST4_score,VEST4_rankscore,MetaSVM_score,MetaSVM_rankscore,MetaSVM_pred,MetaLR_score,MetaLR_rankscore,MetaLR_pred,Reliability_index,MetaRNN_score,MetaRNN_rankscore,MetaRNN_pred,M-CAP_score,M-CAP_rankscore,M-CAP_pred,REVEL_score,REVEL_rankscore,MutPred_score,MutPred_rankscore,MutPred_protID,MutPred_AAchange,MutPred_Top5features,MVP_score,MVP_rankscore,gMVP_score,gMVP_rankscore,MPC_score,MPC_rankscore,PrimateAI_score,PrimateAI_rankscore,PrimateAI_pred,DEOGEN2_score,DEOGEN2_rankscore,DEOGEN2_pred,BayesDel_addAF_score,BayesDel_addAF_rankscore,BayesDel_addAF_pred,BayesDel_noAF_score,BayesDel_noAF_rankscore,BayesDel_noAF_pred,ClinPred_score,ClinPred_rankscore,ClinPred_pred,LIST-S2_score,LIST-S2_rankscore,LIST-S2_pred,VARITY_R_score,VARITY_R_rankscore,VARITY_ER_score,VARITY_ER_rankscore,VARITY_R_LOO_score,VARITY_R_LOO_rankscore,VARITY_ER_LOO_score,VARITY_ER_LOO_rankscore,ESM1b_score,ESM1b_rankscore,ESM1b_pred,EVE_score,EVE_rankscore,EVE_Class10_pred,EVE_Class20_pred,EVE_Class25_pred,EVE_Class30_pred,EVE_Class40_pred,EVE_Class50_pred,EVE_Class60_pred,EVE_Class70_pred,EVE_Class75_pred,EVE_Class80_pred,EVE_Class90_pred,AlphaMissense_score,AlphaMissense_rankscore,AlphaMissense_pred,Aloft_Fraction_transcripts_affected,Aloft_prob_Tolerant,Aloft_prob_Recessive,Aloft_prob_Dominant,Aloft_pred,Aloft_Confidence,CADD_raw,CADD_raw_rankscore,CADD_phred,CADD_raw_hg19,CADD_raw_rankscore_hg19,CADD_phred_hg19,DANN_score,DANN_rankscore,fathmm-MKL_coding_score,fathmm-MKL_coding_rankscore,fathmm-MKL_coding_pred,fathmm-MKL_coding_group,fathmm-XF_coding_score,fathmm-XF_coding_rankscore,fathmm-XF_coding_pred,Eigen-raw_coding,Eigen-raw_coding_rankscore,Eigen-phred_coding,Eigen-PC-raw_coding,Eigen-PC-raw_coding_rankscore,Eigen-PC-phred_coding,GenoCanyon_score,GenoCanyon_rankscore,integrated_fitCons_score,integrated_fitCons_rankscore,integrated_confidence_value,GM12878_fitCons_score,GM12878_fitCons_rankscore,GM12878_confidence_value,H1-hESC_fitCons_score,H1-hESC_fitCons_rankscore,H1-hESC_confidence_value,HUVEC_fitCons_score,HUVEC_fitCons_rankscore,HUVEC_confidence_value,LINSIGHT,LINSIGHT_rankscore,GERP++_NR,GERP++_RS,GERP++_RS_rankscore,phyloP100way_vertebrate,phyloP100way_vertebrate_rankscore,phyloP470way_mammalian,phyloP470way_mammalian_rankscore,phyloP17way_primate,phyloP17way_primate_rankscore,phastCons100way_vertebrate,phastCons100way_vertebrate_rankscore,phastCons470way_mammalian,phastCons470way_mammalian_rankscore,phastCons17way_primate,phastCons17way_primate_rankscore,SiPhy_29way_pi,SiPhy_29way_logOdds,SiPhy_29way_logOdds_rankscore,bStatistic,bStatistic_converted_rankscore,1000Gp3_AC,1000Gp3_AF,1000Gp3_AFR_AC,1000Gp3_AFR_AF,1000Gp3_EUR_AC,1000Gp3_EUR_AF,1000Gp3_AMR_AC,1000Gp3_AMR_AF,1000Gp3_EAS_AC,1000Gp3_EAS_AF,1000Gp3_SAS_AC,1000Gp3_SAS_AF,TWINSUK_AC,TWINSUK_AF,ALSPAC_AC,ALSPAC_AF,UK10K_AC,UK10K_AF,ESP6500_AA_AC,ESP6500_AA_AF,ESP6500_EA_AC,ESP6500_EA_AF,ExAC_AC,ExAC_AF_from_dbNSFP,ExAC_Adj_AC,ExAC_Adj_AF,ExAC_AFR_AC,ExAC_AFR_AF,ExAC_AMR_AC,ExAC_AMR_AF,ExAC_EAS_AC,ExAC_EAS_AF,ExAC_FIN_AC,ExAC_FIN_AF,ExAC_NFE_AC,ExAC_NFE_AF,ExAC_SAS_AC,ExAC_SAS_AF,ExAC_nonTCGA_AC,ExAC_nonTCGA_AF,ExAC_nonTCGA_Adj_AC,ExAC_nonTCGA_Adj_AF,ExAC_nonTCGA_AFR_AC,ExAC_nonTCGA_AFR_AF,ExAC_nonTCGA_AMR_AC,ExAC_nonTCGA_AMR_AF,ExAC_nonTCGA_EAS_AC,ExAC_nonTCGA_EAS_AF,ExAC_nonTCGA_FIN_AC,ExAC_nonTCGA_FIN_AF,ExAC_nonTCGA_NFE_AC,ExAC_nonTCGA_NFE_AF,ExAC_nonTCGA_SAS_AC,ExAC_nonTCGA_SAS_AF,ExAC_nonpsych_AC,ExAC_nonpsych_AF,ExAC_nonpsych_Adj_AC,ExAC_nonpsych_Adj_AF,ExAC_nonpsych_AFR_AC,ExAC_nonpsych_AFR_AF,ExAC_nonpsych_AMR_AC,ExAC_nonpsych_AMR_AF,ExAC_nonpsych_EAS_AC,ExAC_nonpsych_EAS_AF,ExAC_nonpsych_FIN_AC,ExAC_nonpsych_FIN_AF,ExAC_nonpsych_NFE_AC,ExAC_nonpsych_NFE_AF,ExAC_nonpsych_SAS_AC,ExAC_nonpsych_SAS_AF,gnomAD_exomes_flag,gnomAD_exomes_AC,gnomAD_exomes_AN,gnomAD_exomes_AF,gnomAD_exomes_nhomalt,gnomAD_exomes_AFR_AC,gnomAD_exomes_AFR_AN,gnomAD_exomes_AFR_AF,gnomAD_exomes_AFR_nhomalt,gnomAD_exomes_AMR_AC,gnomAD_exomes_AMR_AN,gnomAD_exomes_AMR_AF,gnomAD_exomes_AMR_nhomalt,gnomAD_exomes_ASJ_AC,gnomAD_exomes_ASJ_AN,gnomAD_exomes_ASJ_AF,gnomAD_exomes_ASJ_nhomalt,gnomAD_exomes_EAS_AC,gnomAD_exomes_EAS_AN,gnomAD_exomes_EAS_AF,gnomAD_exomes_EAS_nhomalt,gnomAD_exomes_FIN_AC,gnomAD_exomes_FIN_AN,gnomAD_exomes_FIN_AF,gnomAD_exomes_FIN_nhomalt,gnomAD_exomes_NFE_AC,gnomAD_exomes_NFE_AN,gnomAD_exomes_NFE_AF,gnomAD_exomes_NFE_nhomalt,gnomAD_exomes_SAS_AC,gnomAD_exomes_SAS_AN,gnomAD_exomes_SAS_AF,gnomAD_exomes_SAS_nhomalt,gnomAD_exomes_POPMAX_AC,gnomAD_exomes_POPMAX_AN,gnomAD_exomes_POPMAX_AF,gnomAD_exomes_POPMAX_nhomalt,gnomAD_exomes_controls_AC,gnomAD_exomes_controls_AN,gnomAD_exomes_controls_AF,gnomAD_exomes_controls_nhomalt,gnomAD_exomes_non_neuro_AC,gnomAD_exomes_non_neuro_AN,gnomAD_exomes_non_neuro_AF,gnomAD_exomes_non_neuro_nhomalt,gnomAD_exomes_non_cancer_AC,gnomAD_exomes_non_cancer_AN,gnomAD_exomes_non_cancer_AF,gnomAD_exomes_non_cancer_nhomalt,gnomAD_exomes_non_topmed_AC,gnomAD_exomes_non_topmed_AN,gnomAD_exomes_non_topmed_AF,gnomAD_exomes_non_topmed_nhomalt,gnomAD_exomes_controls_AFR_AC,gnomAD_exomes_controls_AFR_AN,gnomAD_exomes_controls_AFR_AF,gnomAD_exomes_controls_AFR_nhomalt,gnomAD_exomes_controls_AMR_AC,gnomAD_exomes_controls_AMR_AN,gnomAD_exomes_controls_AMR_AF,gnomAD_exomes_controls_AMR_nhomalt,gnomAD_exomes_controls_ASJ_AC,gnomAD_exomes_controls_ASJ_AN,gnomAD_exomes_controls_ASJ_AF,gnomAD_exomes_controls_ASJ_nhomalt,gnomAD_exomes_controls_EAS_AC,gnomAD_exomes_controls_EAS_AN,gnomAD_exomes_controls_EAS_AF,gnomAD_exomes_controls_EAS_nhomalt,gnomAD_exomes_controls_FIN_AC,gnomAD_exomes_controls_FIN_AN,gnomAD_exomes_controls_FIN_AF,gnomAD_exomes_controls_FIN_nhomalt,gnomAD_exomes_controls_NFE_AC,gnomAD_exomes_controls_NFE_AN,gnomAD_exomes_controls_NFE_AF,gnomAD_exomes_controls_NFE_nhomalt,gnomAD_exomes_controls_SAS_AC,gnomAD_exomes_controls_SAS_AN,gnomAD_exomes_controls_SAS_AF,gnomAD_exomes_controls_SAS_nhomalt,gnomAD_exomes_controls_POPMAX_AC,gnomAD_exomes_controls_POPMAX_AN,gnomAD_exomes_controls_POPMAX_AF,gnomAD_exomes_controls_POPMAX_nhomalt,gnomAD_exomes_non_neuro_AFR_AC,gnomAD_exomes_non_neuro_AFR_AN,gnomAD_exomes_non_neuro_AFR_AF,gnomAD_exomes_non_neuro_AFR_nhomalt,gnomAD_exomes_non_neuro_AMR_AC,gnomAD_exomes_non_neuro_AMR_AN,gnomAD_exomes_non_neuro_AMR_AF,gnomAD_exomes_non_neuro_AMR_nhomalt,gnomAD_exomes_non_neuro_ASJ_AC,gnomAD_exomes_non_neuro_ASJ_AN,gnomAD_exomes_non_neuro_ASJ_AF,gnomAD_exomes_non_neuro_ASJ_nhomalt,gnomAD_exomes_non_neuro_EAS_AC,gnomAD_exomes_non_neuro_EAS_AN,gnomAD_exomes_non_neuro_EAS_AF,gnomAD_exomes_non_neuro_EAS_nhomalt,gnomAD_exomes_non_neuro_FIN_AC,gnomAD_exomes_non_neuro_FIN_AN,gnomAD_exomes_non_neuro_FIN_AF,gnomAD_exomes_non_neuro_FIN_nhomalt,gnomAD_exomes_non_neuro_NFE_AC,gnomAD_exomes_non_neuro_NFE_AN,gnomAD_exomes_non_neuro_NFE_AF,gnomAD_exomes_non_neuro_NFE_nhomalt,gnomAD_exomes_non_neuro_SAS_AC,gnomAD_exomes_non_neuro_SAS_AN,gnomAD_exomes_non_neuro_SAS_AF,gnomAD_exomes_non_neuro_SAS_nhomalt,gnomAD_exomes_non_neuro_POPMAX_AC,gnomAD_exomes_non_neuro_POPMAX_AN,gnomAD_exomes_non_neuro_POPMAX_AF,gnomAD_exomes_non_neuro_POPMAX_nhomalt,gnomAD_exomes_non_cancer_AFR_AC,gnomAD_exomes_non_cancer_AFR_AN,gnomAD_exomes_non_cancer_AFR_AF,gnomAD_exomes_non_cancer_AFR_nhomalt,gnomAD_exomes_non_cancer_AMR_AC,gnomAD_exomes_non_cancer_AMR_AN,gnomAD_exomes_non_cancer_AMR_AF,gnomAD_exomes_non_cancer_AMR_nhomalt,gnomAD_exomes_non_cancer_ASJ_AC,gnomAD_exomes_non_cancer_ASJ_AN,gnomAD_exomes_non_cancer_ASJ_AF,gnomAD_exomes_non_cancer_ASJ_nhomalt,gnomAD_exomes_non_cancer_EAS_AC,gnomAD_exomes_non_cancer_EAS_AN,gnomAD_exomes_non_cancer_EAS_AF,gnomAD_exomes_non_cancer_EAS_nhomalt,gnomAD_exomes_non_cancer_FIN_AC,gnomAD_exomes_non_cancer_FIN_AN,gnomAD_exomes_non_cancer_FIN_AF,gnomAD_exomes_non_cancer_FIN_nhomalt,gnomAD_exomes_non_cancer_NFE_AC,gnomAD_exomes_non_cancer_NFE_AN,gnomAD_exomes_non_cancer_NFE_AF,gnomAD_exomes_non_cancer_NFE_nhomalt,gnomAD_exomes_non_cancer_SAS_AC,gnomAD_exomes_non_cancer_SAS_AN,gnomAD_exomes_non_cancer_SAS_AF,gnomAD_exomes_non_cancer_SAS_nhomalt,gnomAD_exomes_non_cancer_POPMAX_AC,gnomAD_exomes_non_cancer_POPMAX_AN,gnomAD_exomes_non_cancer_POPMAX_AF,gnomAD_exomes_non_cancer_POPMAX_nhomalt,gnomAD_exomes_non_topmed_AFR_AC,gnomAD_exomes_non_topmed_AFR_AN,gnomAD_exomes_non_topmed_AFR_AF,gnomAD_exomes_non_topmed_AFR_nhomalt,gnomAD_exomes_non_topmed_AMR_AC,gnomAD_exomes_non_topmed_AMR_AN,gnomAD_exomes_non_topmed_AMR_AF,gnomAD_exomes_non_topmed_AMR_nhomalt,gnomAD_exomes_non_topmed_ASJ_AC,gnomAD_exomes_non_topmed_ASJ_AN,gnomAD_exomes_non_topmed_ASJ_AF,gnomAD_exomes_non_topmed_ASJ_nhomalt,gnomAD_exomes_non_topmed_EAS_AC,gnomAD_exomes_non_topmed_EAS_AN,gnomAD_exomes_non_topmed_EAS_AF,gnomAD_exomes_non_topmed_EAS_nhomalt,gnomAD_exomes_non_topmed_FIN_AC,gnomAD_exomes_non_topmed_FIN_AN,gnomAD_exomes_non_topmed_FIN_AF,gnomAD_exomes_non_topmed_FIN_nhomalt,gnomAD_exomes_non_topmed_NFE_AC,gnomAD_exomes_non_topmed_NFE_AN,gnomAD_exomes_non_topmed_NFE_AF,gnomAD_exomes_non_topmed_NFE_nhomalt,gnomAD_exomes_non_topmed_SAS_AC,gnomAD_exomes_non_topmed_SAS_AN,gnomAD_exomes_non_topmed_SAS_AF,gnomAD_exomes_non_topmed_SAS_nhomalt,gnomAD_exomes_non_topmed_POPMAX_AC,gnomAD_exomes_non_topmed_POPMAX_AN,gnomAD_exomes_non_topmed_POPMAX_AF,gnomAD_exomes_non_topmed_POPMAX_nhomalt,gnomAD_genomes_flag,gnomAD_genomes_AC,gnomAD_genomes_AN,gnomAD_genomes_AF,gnomAD_genomes_nhomalt,gnomAD_genomes_POPMAX_AC,gnomAD_genomes_POPMAX_AN,gnomAD_genomes_POPMAX_AF,gnomAD_genomes_POPMAX_nhomalt,gnomAD_genomes_AFR_AC,gnomAD_genomes_AFR_AN,gnomAD_genomes_AFR_AF,gnomAD_genomes_AFR_nhomalt,gnomAD_genomes_AMI_AC,gnomAD_genomes_AMI_AN,gnomAD_genomes_AMI_AF,gnomAD_genomes_AMI_nhomalt,gnomAD_genomes_AMR_AC,gnomAD_genomes_AMR_AN,gnomAD_genomes_AMR_AF,gnomAD_genomes_AMR_nhomalt,gnomAD_genomes_ASJ_AC,gnomAD_genomes_ASJ_AN,gnomAD_genomes_ASJ_AF,gnomAD_genomes_ASJ_nhomalt,gnomAD_genomes_EAS_AC,gnomAD_genomes_EAS_AN,gnomAD_genomes_EAS_AF,gnomAD_genomes_EAS_nhomalt,gnomAD_genomes_FIN_AC,gnomAD_genomes_FIN_AN,gnomAD_genomes_FIN_AF,gnomAD_genomes_FIN_nhomalt,gnomAD_genomes_MID_AC,gnomAD_genomes_MID_AN,gnomAD_genomes_MID_AF,gnomAD_genomes_MID_nhomalt,gnomAD_genomes_NFE_AC,gnomAD_genomes_NFE_AN,gnomAD_genomes_NFE_AF,gnomAD_genomes_NFE_nhomalt,gnomAD_genomes_SAS_AC,gnomAD_genomes_SAS_AN,gnomAD_genomes_SAS_AF,gnomAD_genomes_SAS_nhomalt,gnomAD_genomes_controls_and_biobanks_AC,gnomAD_genomes_controls_and_biobanks_AN,gnomAD_genomes_controls_and_biobanks_AF,gnomAD_genomes_controls_and_biobanks_nhomalt,gnomAD_genomes_non_neuro_AC,gnomAD_genomes_non_neuro_AN,gnomAD_genomes_non_neuro_AF,gnomAD_genomes_non_neuro_nhomalt,gnomAD_genomes_non_cancer_AC,gnomAD_genomes_non_cancer_AN,gnomAD_genomes_non_cancer_AF,gnomAD_genomes_non_cancer_nhomalt,gnomAD_genomes_non_topmed_AC,gnomAD_genomes_non_topmed_AN,gnomAD_genomes_non_topmed_AF,gnomAD_genomes_non_topmed_nhomalt,gnomAD_genomes_controls_and_biobanks_AFR_AC,gnomAD_genomes_controls_and_biobanks_AFR_AN,gnomAD_genomes_controls_and_biobanks_AFR_AF,gnomAD_genomes_controls_and_biobanks_AFR_nhomalt,gnomAD_genomes_controls_and_biobanks_AMI_AC,gnomAD_genomes_controls_and_biobanks_AMI_AN,gnomAD_genomes_controls_and_biobanks_AMI_AF,gnomAD_genomes_controls_and_biobanks_AMI_nhomalt,gnomAD_genomes_controls_and_biobanks_AMR_AC,gnomAD_genomes_controls_and_biobanks_AMR_AN,gnomAD_genomes_controls_and_biobanks_AMR_AF,gnomAD_genomes_controls_and_biobanks_AMR_nhomalt,gnomAD_genomes_controls_and_biobanks_ASJ_AC,gnomAD_genomes_controls_and_biobanks_ASJ_AN,gnomAD_genomes_controls_and_biobanks_ASJ_AF,gnomAD_genomes_controls_and_biobanks_ASJ_nhomalt,gnomAD_genomes_controls_and_biobanks_EAS_AC,gnomAD_genomes_controls_and_biobanks_EAS_AN,gnomAD_genomes_controls_and_biobanks_EAS_AF,gnomAD_genomes_controls_and_biobanks_EAS_nhomalt,gnomAD_genomes_controls_and_biobanks_FIN_AC,gnomAD_genomes_controls_and_biobanks_FIN_AN,gnomAD_genomes_controls_and_biobanks_FIN_AF,gnomAD_genomes_controls_and_biobanks_FIN_nhomalt,gnomAD_genomes_controls_and_biobanks_MID_AC,gnomAD_genomes_controls_and_biobanks_MID_AN,gnomAD_genomes_controls_and_biobanks_MID_AF,gnomAD_genomes_controls_and_biobanks_MID_nhomalt,gnomAD_genomes_controls_and_biobanks_NFE_AC,gnomAD_genomes_controls_and_biobanks_NFE_AN,gnomAD_genomes_controls_and_biobanks_NFE_AF,gnomAD_genomes_controls_and_biobanks_NFE_nhomalt,gnomAD_genomes_controls_and_biobanks_SAS_AC,gnomAD_genomes_controls_and_biobanks_SAS_AN,gnomAD_genomes_controls_and_biobanks_SAS_AF,gnomAD_genomes_controls_and_biobanks_SAS_nhomalt,gnomAD_genomes_non_neuro_AFR_AC,gnomAD_genomes_non_neuro_AFR_AN,gnomAD_genomes_non_neuro_AFR_AF,gnomAD_genomes_non_neuro_AFR_nhomalt,gnomAD_genomes_non_neuro_AMI_AC,gnomAD_genomes_non_neuro_AMI_AN,gnomAD_genomes_non_neuro_AMI_AF,gnomAD_genomes_non_neuro_AMI_nhomalt,gnomAD_genomes_non_neuro_AMR_AC,gnomAD_genomes_non_neuro_AMR_AN,gnomAD_genomes_non_neuro_AMR_AF,gnomAD_genomes_non_neuro_AMR_nhomalt,gnomAD_genomes_non_neuro_ASJ_AC,gnomAD_genomes_non_neuro_ASJ_AN,gnomAD_genomes_non_neuro_ASJ_AF,gnomAD_genomes_non_neuro_ASJ_nhomalt,gnomAD_genomes_non_neuro_EAS_AC,gnomAD_genomes_non_neuro_EAS_AN,gnomAD_genomes_non_neuro_EAS_AF,gnomAD_genomes_non_neuro_EAS_nhomalt,gnomAD_genomes_non_neuro_FIN_AC,gnomAD_genomes_non_neuro_FIN_AN,gnomAD_genomes_non_neuro_FIN_AF,gnomAD_genomes_non_neuro_FIN_nhomalt,gnomAD_genomes_non_neuro_MID_AC,gnomAD_genomes_non_neuro_MID_AN,gnomAD_genomes_non_neuro_MID_AF,gnomAD_genomes_non_neuro_MID_nhomalt,gnomAD_genomes_non_neuro_NFE_AC,gnomAD_genomes_non_neuro_NFE_AN,gnomAD_genomes_non_neuro_NFE_AF,gnomAD_genomes_non_neuro_NFE_nhomalt,gnomAD_genomes_non_neuro_SAS_AC,gnomAD_genomes_non_neuro_SAS_AN,gnomAD_genomes_non_neuro_SAS_AF,gnomAD_genomes_non_neuro_SAS_nhomalt,gnomAD_genomes_non_cancer_AFR_AC,gnomAD_genomes_non_cancer_AFR_AN,gnomAD_genomes_non_cancer_AFR_AF,gnomAD_genomes_non_cancer_AFR_nhomalt,gnomAD_genomes_non_cancer_AMI_AC,gnomAD_genomes_non_cancer_AMI_AN,gnomAD_genomes_non_cancer_AMI_AF,gnomAD_genomes_non_cancer_AMI_nhomalt,gnomAD_genomes_non_cancer_AMR_AC,gnomAD_genomes_non_cancer_AMR_AN,gnomAD_genomes_non_cancer_AMR_AF,gnomAD_genomes_non_cancer_AMR_nhomalt,gnomAD_genomes_non_cancer_ASJ_AC,gnomAD_genomes_non_cancer_ASJ_AN,gnomAD_genomes_non_cancer_ASJ_AF,gnomAD_genomes_non_cancer_ASJ_nhomalt,gnomAD_genomes_non_cancer_EAS_AC,gnomAD_genomes_non_cancer_EAS_AN,gnomAD_genomes_non_cancer_EAS_AF,gnomAD_genomes_non_cancer_EAS_nhomalt,gnomAD_genomes_non_cancer_FIN_AC,gnomAD_genomes_non_cancer_FIN_AN,gnomAD_genomes_non_cancer_FIN_AF,gnomAD_genomes_non_cancer_FIN_nhomalt,gnomAD_genomes_non_cancer_MID_AC,gnomAD_genomes_non_cancer_MID_AN,gnomAD_genomes_non_cancer_MID_AF,gnomAD_genomes_non_cancer_MID_nhomalt,gnomAD_genomes_non_cancer_NFE_AC,gnomAD_genomes_non_cancer_NFE_AN,gnomAD_genomes_non_cancer_NFE_AF,gnomAD_genomes_non_cancer_NFE_nhomalt,gnomAD_genomes_non_cancer_SAS_AC,gnomAD_genomes_non_cancer_SAS_AN,gnomAD_genomes_non_cancer_SAS_AF,gnomAD_genomes_non_cancer_SAS_nhomalt,gnomAD_genomes_non_topmed_AFR_AC,gnomAD_genomes_non_topmed_AFR_AN,gnomAD_genomes_non_topmed_AFR_AF,gnomAD_genomes_non_topmed_AFR_nhomalt,gnomAD_genomes_non_topmed_AMI_AC,gnomAD_genomes_non_topmed_AMI_AN,gnomAD_genomes_non_topmed_AMI_AF,gnomAD_genomes_non_topmed_AMI_nhomalt,gnomAD_genomes_non_topmed_AMR_AC,gnomAD_genomes_non_topmed_AMR_AN,gnomAD_genomes_non_topmed_AMR_AF,gnomAD_genomes_non_topmed_AMR_nhomalt,gnomAD_genomes_non_topmed_ASJ_AC,gnomAD_genomes_non_topmed_ASJ_AN,gnomAD_genomes_non_topmed_ASJ_AF,gnomAD_genomes_non_topmed_ASJ_nhomalt,gnomAD_genomes_non_topmed_EAS_AC,gnomAD_genomes_non_topmed_EAS_AN,gnomAD_genomes_non_topmed_EAS_AF,gnomAD_genomes_non_topmed_EAS_nhomalt,gnomAD_genomes_non_topmed_FIN_AC,gnomAD_genomes_non_topmed_FIN_AN,gnomAD_genomes_non_topmed_FIN_AF,gnomAD_genomes_non_topmed_FIN_nhomalt,gnomAD_genomes_non_topmed_MID_AC,gnomAD_genomes_non_topmed_MID_AN,gnomAD_genomes_non_topmed_MID_AF,gnomAD_genomes_non_topmed_MID_nhomalt,gnomAD_genomes_non_topmed_NFE_AC,gnomAD_genomes_non_topmed_NFE_AN,gnomAD_genomes_non_topmed_NFE_AF,gnomAD_genomes_non_topmed_NFE_nhomalt,gnomAD_genomes_non_topmed_SAS_AC,gnomAD_genomes_non_topmed_SAS_AN,gnomAD_genomes_non_topmed_SAS_AF,gnomAD_genomes_non_topmed_SAS_nhomalt,ALFA_European_AC,ALFA_European_AN,ALFA_European_AF,ALFA_African_Others_AC,ALFA_African_Others_AN,ALFA_African_Others_AF,ALFA_East_Asian_AC,ALFA_East_Asian_AN,ALFA_East_Asian_AF,ALFA_African_American_AC,ALFA_African_American_AN,ALFA_African_American_AF,ALFA_Latin_American_1_AC,ALFA_Latin_American_1_AN,ALFA_Latin_American_1_AF,ALFA_Latin_American_2_AC,ALFA_Latin_American_2_AN,ALFA_Latin_American_2_AF,ALFA_Other_Asian_AC,ALFA_Other_Asian_AN,ALFA_Other_Asian_AF,ALFA_South_Asian_AC,ALFA_South_Asian_AN,ALFA_South_Asian_AF,ALFA_Other_AC,ALFA_Other_AN,ALFA_Other_AF,ALFA_African_AC,ALFA_African_AN,ALFA_African_AF,ALFA_Asian_AC,ALFA_Asian_AN,ALFA_Asian_AF,ALFA_Total_AC,ALFA_Total_AN,ALFA_Total_AF,clinvar_id,clinvar_clnsig,clinvar_trait,clinvar_review,clinvar_hgvs,clinvar_var_source,clinvar_MedGen_id,clinvar_OMIM_id,clinvar_Orphanet_id,Interpro_domain,GTEx_V8_gene,GTEx_V8_tissue,Geuvadis_eQTL_target_gene,solo_Hugo_Symbol,Gene_name,Ensembl_gene,chr,Gene_old_names,Gene_other_names,Uniprot_acc(HGNC/Uniprot),Uniprot_id(HGNC/Uniprot),Entrez_gene_id,CCDS_id,Refseq_id,ucsc_id,MIM_id,OMIM_id,Gene_full_name,Pathway(Uniprot),Pathway(BioCarta)_short,Pathway(BioCarta)_full,Pathway(ConsensusPathDB),Pathway(KEGG)_id,Pathway(KEGG)_full,Function_description,Disease_description,MIM_phenotype_id,MIM_disease,Orphanet_disorder_id,Orphanet_disorder,Orphanet_association_type,Trait_association(GWAS),HPO_id,HPO_name,GO_biological_process,GO_cellular_component,GO_molecular_function,Tissue_specificity(Uniprot),Expression(egenetics),Expression(GNF/Atlas),Interactions(IntAct),Interactions(BioGRID),Interactions(ConsensusPathDB),P(HI),HIPred_score,HIPred,GHIS,P(rec),Known_rec_info,RVIS_EVS,RVIS_percentile_EVS,LoF-FDR_ExAC,RVIS_ExAC,RVIS_percentile_ExAC,ExAC_pLI,ExAC_pRec,ExAC_pNull,ExAC_nonTCGA_pLI,ExAC_nonTCGA_pRec,ExAC_nonTCGA_pNull,ExAC_nonpsych_pLI,ExAC_nonpsych_pRec,ExAC_nonpsych_pNull,gnomAD_pLI,gnomAD_pRec,gnomAD_pNull,ExAC_del.score,ExAC_dup.score,ExAC_cnv.score,ExAC_cnv_flag,GDI,GDI-Phred,Gene damage prediction (all disease-causing genes),Gene damage prediction (all Mendelian disease-causing genes),Gene damage prediction (Mendelian AD disease-causing genes),Gene damage prediction (Mendelian AR disease-causing genes),Gene damage prediction (all PID disease-causing genes),Gene damage prediction (PID AD disease-causing genes),Gene damage prediction (PID AR disease-causing genes),Gene damage prediction (all cancer disease-causing genes),Gene damage prediction (cancer recessive disease-causing genes),Gene damage prediction (cancer dominant disease-causing genes),LoFtool_score,SORVA_LOF_MAF0.005_HetOrHom,SORVA_LOF_MAF0.005_HomOrCompoundHet,SORVA_LOF_MAF0.001_HetOrHom,SORVA_LOF_MAF0.001_HomOrCompoundHet,SORVA_LOForMissense_MAF0.005_HetOrHom,SORVA_LOForMissense_MAF0.005_HomOrCompoundHet,SORVA_LOForMissense_MAF0.001_HetOrHom,SORVA_LOForMissense_MAF0.001_HomOrCompoundHet,Essential_gene,Essential_gene_CRISPR,Essential_gene_CRISPR2,Essential_gene_gene-trap,Gene_indispensability_score,Gene_indispensability_pred,MGI_mouse_gene,MGI_mouse_phenotype,ZFIN_zebrafish_gene,ZFIN_zebrafish_structure,ZFIN_zebrafish_phenotype_quality,ZFIN_zebrafish_phenotype_tag,MutAnt_score,MutAnt_oncogene_supressor_classification,MutAnt_feature_availability
0,ADSS,0,,GRCh38,chr1,244420275,244420275,+,Missense_Mutation,SNP,G,G,T,novel,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,G,G,,,,,,,,,,,,,,,,c.685C>A,p.Pro229Thr,p.P229T,ENST00000366535,8/13,39,36,3,80,80,0,"ADSS,missense_variant,p.Pro229Thr,ENST00000366535,;ADSS,non_coding_transcript_exon_variant,,ENST00000462358,;ADSS,upstream_gene_variant,,ENST00000468215,;",T,ENSG00000035687,ENST00000366535,Transcript,missense_variant,1002,685,229,P/T,Cca/Aca,,,,-1,ADSS,HGNC,292,protein_coding,YES,CCDS1624.1,ENSP00000355493,PURA2_HUMAN,,UPI0000132AF5,,deleterious(0.02),probably_damaging(0.911),8/13,,"HAMAP:MF_00011,HAMAP:MF_03127,hmmpanther:PTHR11846:SF1,hmmpanther:PTHR11846,Gene3D:2v40A01,TIGRFAM_domain:TIGR00184,Pfam_domain:PF00709,SMART_domains:SM00788,Superfamily_domains:SSF52540",,,,,,,,,,,,,,,,,MODERATE,,SNV,,,,,,,,,,,,,,StrandBias,NONE,MUTECT|MUSE,CATTGGTTTAA,,2,P,T,,1,244583577,1,242650200,229,ADSS,ENSG00000035687,ENST00000366535,ENSP00000355493,P30520,PURA2_HUMAN,c.685C>A,p.P229T,c.685C>A,p.Pro229Thr,c.685C>A,p.Pro229Thr,principal1,Y,1,YES,-,CCA,1,0,G,G/G,G/G,G/G,G/G,0.01,0.56456,D,0.017,0.60337,D,0.995,0.67487,D,0.987,0.77487,D,0.000000,0.84330,D,0.000000,1,0.81001,D,simple_aae,P229T,3.385,0.91502,M,0.82,0.48142,T,-7.97,0.96368,D,0.855,0.85132,0.1373,0.84836,D,0.4595,0.79015,T,10,0.86136734,0.85358,D,0.029736,0.52190,D,0.581,0.83137,0.616;,0.75000,P30520;,P229T;,Gain of phosphorylation at P229 (P = 0.035);,0.461940018687,0.45822,0.8137538509665049,0.81331,1.66854619093,0.89824,0.740777790546,0.73087,T,0.293199,0.66591,T,0.276577,0.81021,D,0.159507,0.80776,D,0.998407900333405,0.94057,D,0.959504,0.84742,D,0.669955,0.76431,0.62628865,0.78214,0.669955,0.76432,0.62628865,0.78215,-8.505,0.84662,D,,,,,,,,,,,,,,0.207,0.43352,B,.;,.;,.;,.;,.;,.;,3.942690,0.76673,26.6,3.879154,0.78082,26.8,0.99787699182020917,0.87396,0.99622,0.98079,D,AEFGBI,0.866216,0.78556,D,1.09819799526342,0.98101,17.42895,1.02645245785814,0.99075,20.55868,0.999999999996387,0.74766,0.732398,0.92422,0,0.743671,0.97443,0,0.743671,0.96076,0,0.714379,0.83352,0,,,5.64,5.64,0.86480,10.003000,0.99689,11.808000,0.96852,0.614000,0.49286,1.000000,0.71638,1.000000,0.68203,0.999000,0.91618,0.0:0.0:1.0:0.0,20.0626,0.97683,967,0.07127,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,ADSS,ADSS,ENSG00000035687,1,,,P30520,PURA2_HUMAN,159,CCDS1624,NM_001126,uc001iaj.4,103060,103060,adenylosuccinate synthase,PATHWAY: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2. {ECO:0000255|HAMAP-Rule:MF_03127}.; ,,,"Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Purine Nucleoside Phosphorylase Deficiency;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Xanthine Dehydrogenase Deficiency (Xanthinuria);Adenylosuccinate Lyase Deficiency;AICA-Ribosiduria;Thioguanine Action Pathway;Adenine phosphoribosyltransferase deficiency (APRT);Mitochondrial DNA depletion syndrome;Myoadenylate deaminase deficiency;Purine Metabolism;Molybdenum Cofactor Deficiency;Adenosine Deaminase Deficiency;Gout or Kelley-Seegmiller Syndrome;Lesch-Nyhan Syndrome (LNS);Xanthinuria type I;Xanthinuria type II;Nucleotide Metabolism;nfat and hypertrophy of the heart ;adenosine ribonucleotides <i>de novo</i> biosynthesis;Metabolism of nucleotides;Alanine Aspartate Asparagine metabolism;Metabolism;Nucleobase biosynthesis;Purine nucleotides nucleosides metabolism;superpathway of purine nucleotide salvage;Purine ribonucleoside monophosphate biosynthesis;purine nucleotides <i>de novo</i> biosynthesis",hsa00230;hsa00252,Purine metabolism;Alanine and aspartate metabolism,FUNCTION: Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.; ,,,,,,,Epithelial ovarian cancer[25134534];Dementia and core Alzheimer's disease neuropathologic changes[25188341];Obesity-related traits[23251661];,,,immune system process;AMP biosynthetic process;aspartate metabolic process;purine ribonucleoside monophosphate biosynthetic process;response to purine-containing compound;'de novo' AMP biosynthetic process;IMP metabolic process;response to ammonium ion;cellular response to electrical stimulus,cytoplasm;cytosol;plasma membrane;extracellular exosome,magnesium ion binding;adenylosuccinate synthase activity;protein binding;GTP binding;phosphate ion binding,,,,KSR1[27086506];HLA-B[17353931];SMYD1[23455924];IKBKE[17353931];TANK[unassigned1774];OTUB1[26752685];,RNH1[22939629;27684187];WDR1[22863883;27684187];RPL31[27684187];EIF4A3[27684187];HSPB1[27684187];PTMS[22863883];RPS16[27684187];YWHAQ[27684187];IMPA2[26344197];TUBB3[27684187];KYNU[22863883];ANXA6[22863883];GNPNAT1[26344197];TRIM25[29117863];UQCRFS1[27684187];ARFIP1[26344197];RPS11[27684187];LGALS7[28514442];PDIA3[22863883];ADSL[27684187];RPS8[27684187];TANGO2[26344197];ATG10[20562859];NME2[26344197];TALDO1[22863883;27684187];HLA-A[27684187];DCK[22863883];EEF1A1[27684187];THRAP3[27684187];CDC37[27684187];ADSSL1[28514442;27684187];CHMP4A[22863883];UMPS[26344197];THOP1[22863883];GART[26344197];YAP1[25796446];NPB[28514442];OAT[26344197];PCNA[27684187];CTBP1[26344197];CUL3[21145461];RPE[26344197];GMPS[27684187];ATP1A1[27684187];HSD17B10[26344197];GSPT2[27684187];HSPD1[27684187];NME1-NME2[26344197];PRDX5[27684187];CHRAC1[22863883];RPS15A[27684187];HIST1H3A[27684187];OXCT1[22863883];PCBP1[27684187];RPS3[27684187];SMYD1[23455924;28514442];ATP6V1H[27684187];PCBD1[26344197];RBBP7[22863883];CCT8[27684187];RPL17[27684187];AASDHPPT[26344197];FDPS[22863883];HSPA8[27684187];TGFB1[27684187];CBX3[22863883];IDH1[22863883];AGL[26344197];SGTA[22939629];GSR[22863883];DSTN[27684187];MAPK14[22863883];HSPE1[22863883];EEF2[27684187];RAB11A[27684187];PPP1CA[27684187];PFKL[26344197];RPS28[27684187];DNAJA2[27684187];C6orf211[26344197];TARDBP[27684187];HSPA1A[27684187];UBE2M[28581483];,UBB[0.952];IKBKE[0.957];UBE2N[NA];DNAJA1[NA];KPNB1[NA];MTHFD1[NA];HSD17B12[NA];TLN1[NA];UBE2E3[NA];MRPS7[NA];PRDX5[NA];ACOT7[NA];ATP5MD[NA];TXN[NA];CALR[NA];ADSL[NA];ILKAP[NA];MCCC2[NA];UQCRH[NA];PLS3[NA];FARSB[NA];SRP54[NA];SDHA[NA];RPA1[NA];BPNT1[NA];PTGES3[NA];KHSRP[NA];YWHAQ[NA];RCC2[NA];HSPA6[NA];CKAP4[NA];STUB1[NA];HDGF[NA];APEX1[NA];AIMP2[NA];COPA[NA];EIF4A1[NA];PDIA6[NA];PRDX1[NA];SF1[NA];TBCA[NA];CACYBP[NA];VDAC2[NA];NTPCR[NA];LBR[NA];SSH3[NA];TRIR[NA];DYNLL1[NA];PFAS[NA];AHSA1[NA];UBE2D2[NA];ASNA1[NA];MAP4[NA];ATP5PB[NA];ATP5IF1[NA];CALM3[NA];FDPS[NA];CDK1[NA];FUBP3[NA];PRKCSH[NA];CSRP2[NA];UQCRC1[NA];LDHB[NA];PHB[NA];TDP2[NA];HSPA4L[NA];COPB1[NA];CALU[NA];CTPS1[NA];ERP29[NA];ARF4[NA];FAM136A[NA];PARK7[NA];RPL26L1[NA];PDCD5[NA];AGK[NA];RAN[NA];SYAP1[NA];CS[NA];TUFM[NA];RCC1[NA];CNN3[NA];GAPDH[NA];HIF1AN[NA];CANX[NA];SGTA[NA];UQCRC2[NA];CALD1[NA];MSH2[NA];HSPA4[NA];UBE2W[NA];CKB[NA];ACAT1[NA];SLC27A4[NA];AARS[NA];PFN1[NA];YTHDF2[NA];COX6C[NA];PHB2[NA];HSPA9[NA];EIF4H[NA];IDH3B[NA];PFN2[NA];SEC61B[NA];SLC25A3[NA];MARCKSL1[NA];UCHL1[NA];TARDBP[NA];SSR4[NA];MAIP1[NA];SET[NA];UBTD1[NA];UBA1[NA];CCNB1[NA];MAGED2[NA];LSM3[NA];HMGB2[NA];NME2[NA];FKBP4[NA];YWHAZ[NA];PPAT[NA];SFXN1[NA];BAG2[NA];ATP5F1B[NA];HSPH1[NA];CHORDC1[NA];BAG6[NA];STIP1[NA];HSPD1[NA];GARS[NA];PIN1[NA];LDHA[NA];EZR[NA];OAT[NA];YWHAB[NA];ARCN1[NA];CLIC1[NA];UBE2E2[NA];SELENOK[NA];NAP1L4[NA];SFN[NA];PSME3[NA];CD2BP2[NA];AK2[NA];MPG[NA];ARHGDIA[NA];PIN4[NA];HSP90AB2P[NA];HPRT1[NA];PPM1G[NA];QARS[NA];ELOC[NA];TMED10[NA];ACAT2[NA];SRPRB[NA];SLC16A1[NA];GSTP1[NA];DNAJC8[NA];PCNA[NA];XRCC5[NA];UBE2E1[NA];ACLY[NA];CAD[NA];CAND1[NA];ZC3H15[NA];NOSIP[NA];HSPA8[NA];FUBP1[NA];ANP32A[NA];HSP90AA1[NA];HSD17B10[NA];UBE2D3[NA];NDUFA4[NA];TMSB10[NA];UTS2[NA];NUP93[NA];ANP32E[NA];PSMF1[NA];TTLL12[NA];PNKD[NA];ARF5[NA];KARS[NA];UCHL3[NA];OSGEP[NA];SLC25A11[NA];CRKL[NA];TARS[NA];ALDOA[NA];PTMA[NA];PAICS[NA];KCTD12[NA];SLIT3[NA];TXLNA[NA];MCM6[NA];SLC25A13[NA];IPO5[NA];LAGE3[NA];PRDX6[NA];FLYWCH2[NA];HSP90B1[NA];RANGAP1[NA];STMN2[NA];CSDE1[NA];RPN2[NA];GART[NA];PPA1[NA];CTNND1[NA];ATP5F1A[NA];TRAFD1[NA];AIFM1[NA];STMN1[NA];CDKN2A[NA];OTUB1[NA];JPT2[NA];PCBP1[NA];ASNS[NA];SEPT2[NA];ANP32B[NA];PHGDH[NA];COX5A[NA];TRAP1[NA];ENO1[NA];TPT1[NA];TCEA1[NA];CBR1[NA];SLC25A1[NA];COX5B[NA];EIF6[NA];ATP1A1[NA];PKM[NA];GIGYF2[NA];FARSA[NA];PRDX2[NA];MTPN[NA];UBL4A[NA];RRM1[NA];HSPE1[NA];NUDC[NA];CBS[NA];EEF2[NA];HSPA5[NA];SRM[NA];LETM1[NA];TUBB4B[NA];P4HB[NA];RPN1[NA];TUBB4A[NA];EDF1[NA];GMPS[NA];ESD[NA];PGK1[NA];ATIC[NA];NASP[NA];TOMM22[NA];NSUN2[NA];ELP1[NA];DNAJC7[NA];QPCTL[NA];CSE1L[NA];DLD[NA];GCLM[NA];ABCF2[NA];UBE2D1[NA];CKAP2[NA];TBCB[NA];EPM2A[NA];SH3GL1[NA];SNX2[NA];BSG[NA];GPX4[NA];DNAJB1[NA];SLC25A5[NA];UBE2L3[NA];RANBP1[NA];BCAP31[NA];FKBP3[NA];SDHB[NA];ATP6V1A[NA];LRRC59[NA];SEPT7[NA];SHMT2[NA];ZC3HAV1L[NA];FASN[NA];ERP44[NA];UBE2G2[NA];VDAC3[NA];PDIA3[NA];CARM1[NA];API5[NA];FEN1[NA];HLA-B[0.886];SMYD1[0.264];ACTA1[0.908];ATG10[0.227];CUL3[0.263];RNH1[0.544];SGTA[0.513];ANXA6[0.789];CBX3[0.135];CHMP4A[0.951];CHRAC1[0.064];DCK[0.999];GSR[0.991];IDH1[0.997];MAPK14[0.853];OXCT1[0.918];THOP1[0.280];FDPS[0.988];HSPE1[0.651];KYNU[0.994];PDIA3[0.708];PTMS[0.893];RBBP7[0.105];TALDO1[0.992];WDR1[0.796];AASDHPPT[0.996];CTBP1[0.182];OAT[0.938];AGL[0.912];ARFIP1[0.987];ARMT1[0.005];GART[0.998];GNPNAT1[0.915];HSD17B10[0.989];IMPA2[0.897];NME2[0.980];PCBD1[0.994];PFKL[0.994];RPE[0.999];TANGO2[0.004];UMPS[0.997];ADSSL1[0.999];NPB[0.004];LGALS7[0.072];YAP1[0.838],0.71511,0.708144545555115,Y,0.591370734,0.34803,,0.01,54.95,0.09481053,-0.480543862,22.53478706,0.822870227739542,0.177095097669272,3.46745911860389e-05,0.733112031429444,0.266777153568525,0.000110815002031051,0.714204575631973,0.285629400182865,0.000166024185162106,3.6264e-01,6.3734e-01,1.9149e-05,0.901725675935644,0.427198861749265,0.747485019355106,N,99.3475,2.15777,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,3.65E-01,0.0,0.0,0.0,0.0,0.0047923322683706,0.0,0.0047923322683706,0.0,,E,S,E,0.954791819295224,E,Adss,,adssl,trunk,necrotic,abnormal,0.9227202017918618,Tumour Suppressor,tools
1,SLC6A9,0,,GRCh38,chr1,44010770,44010770,+,Missense_Mutation,SNP,C,C,T,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.362G>A,p.Gly121Asp,p.G121D,ENST00000360584,3/14,60,43,17,70,70,0,"SLC6A9,missense_variant,p.Gly67Asp,ENST00000357730,;SLC6A9,missense_variant,p.Gly48Asp,ENST00000372306,;SLC6A9,missense_variant,p.Gly67Asp,ENST00000528803,;SLC6A9,missense_variant,p.Gly102Asp,ENST00000466926,;SLC6A9,missense_variant,p.Gly48Asp,ENST00000372310,;SLC6A9,missense_variant,p.Gly121Asp,ENST00000360584,;SLC6A9,5_prime_UTR_variant,,ENST00000372307,;SLC6A9,intron_variant,,ENST00000537678,;SLC6A9,intron_variant,,ENST00000475075,;SLC6A9,intron_variant,,ENST00000492434,;SLC6A9,downstream_gene_variant,,ENST00000533007,;SLC6A9,non_coding_transcript_exon_variant,,ENST00000489764,;",T,ENSG00000196517,ENST00000360584,Transcript,missense_variant,554,362,121,G/D,gGc/gAc,"COSM3805365,COSM3805364",,,-1,SLC6A9,HGNC,11056,protein_coding,YES,CCDS41317.1,ENSP00000353791,SC6A9_HUMAN,B7Z589_HUMAN,UPI000053030B,,deleterious(0),probably_damaging(1),3/14,,"Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF110,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176",,,,,,,,,,,"1,1",,,,,,MODERATE,,SNV,,,"1,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,CATTGCCCAGG,,5,G,D,,1,44476442,1,44249029,48;48;121;67;67;102,SLC6A9;SLC6A9;SLC6A9;SLC6A9;SLC6A9;SLC6A9,ENSG00000196517;ENSG00000196517;ENSG00000196517;ENSG00000196517;ENSG00000196517;ENSG00000196517,ENST00000372306;ENST00000372310;ENST00000360584;ENST00000357730;ENST00000528803;ENST00000466926,ENSP00000361380;ENSP00000361384;ENSP00000353791;ENSP00000350362;ENSP00000435652;ENSP00000433241,J3KPA5;P48067-2;P48067;P48067-3;E9PJ65;E9PLM5,J3KPA5_HUMAN;SC6A9_HUMAN;SC6A9_HUMAN;SC6A9_HUMAN;E9PJ65_HUMAN;E9PLM5_HUMAN,c.143G>A;c.143G>A;c.362G>A;c.200G>A;.;.,p.G48D;p.G48D;p.G121D;p.G67D;.;.,c.143G>A;c.143G>A;c.362G>A;c.200G>A;c.200G>A;c.305G>A,p.Gly48Asp;p.Gly48Asp;p.Gly121Asp;p.Gly67Asp;p.Gly67Asp;p.Gly102Asp,c.143G>A;c.143G>A;c.362G>A;c.200G>A;c.200G>A;c.305G>A,p.Gly48Asp;p.Gly48Asp;p.Gly121Asp;p.Gly67Asp;p.Gly67Asp;p.Gly102Asp,.;principal3;.;alternative1;.;.,Y;Y;Y;Y;.;.,2;5;1;1;4;3,.;.;YES;.;.;.,-;-;-;-;-;-,GGC;GGC;GGC;GGC;GGC;GGC,2;2;2;2;2;2,0;0;0;0;0;0,C,C/C,C/C,C/C,C/C,0.0;0.0;0.0;0.001;0.001;0.0,0.91255,D;D;D;D;D;D,0.001;0.002;0.002;0.002;.;.,0.83351,D;D;D;D;.;.,.;1.0;1.0;1.0;.;.,0.90584,.;D;D;D;.;.,.;0.999;1.0;0.999;.;.,0.97372,.;D;D;D;.;.,0.000000,0.84330,D,0.000000,1;1;1;1;1;1;1,0.81001,D;D;D;D;D;D;D,simple_aae;simple_aae;simple_aae;simple_aae;without_aae;without_aae;without_aae,G67D;G121D;G48D;G48D;.;.;.,.;.;4.045;.;.;.,0.97016,.;.;H;.;.;.,-1.57;-1.57;-1.57;-1.57;-1.57;-1.57,0.81900,D;D;D;D;D;D,-6.42;-6.42;-6.42;-6.35;-6.97;-6.99,0.93621,D;D;D;D;D;D,0.98;0.975;0.98;0.948;.;.,0.99015,0.8754,0.95346,D,0.8104,0.93600,D,10,0.9881147;0.9881147;0.9881147;0.9881147;0.9881147;0.9881147,0.99212,D;D;D;D;D;D,0.578373,0.96213,D,0.967;0.967;0.967;0.967;0.967;0.967,0.99571,.;.;0.936;.;.;.;,0.99075,.;.;P48067;.;.;.;,.;.;G121D;.;.;.;,.;.;Loss of catalytic residue at G119 (P = 0.0472);.;.;.;,0.942898370415;0.942898370415;0.942898370415;0.942898370415;0.942898370415;0.942898370415,0.94230,.;.;0.9717049722220332;.;.;.,0.97159,.;.;2.06991743796;.;.;.,0.94482,0.952624559402,0.99804,D,.;.;0.773189;.;.;.,0.93945,.;.;D;.;.;.,0.442426,0.92135,D,0.397738,0.92038,D,0.999385952949524,0.97194,D,0.970703;0.970703;0.970703;0.970703;0.963704;0.961904,0.89491,D;D;D;D;D;D,.;.;0.9607333;.;.;.,0.97355,.;.;0.9623041;.;.;.,0.99094,.;.;0.9607333;.;.;.,0.97355,.;.;0.9623041;.;.;.,0.99095,.;-6.393;-6.246;-6.405;.;.,0.76198,.;T;T;T;.;.,.;.;0.7269366934896324;.;.;.,0.80842,.;.;U;.;.;.,.;.;U;.;.;.,.;.;U;.;.;.,.;.;U;.;.;.,.;.;U;.;.;.,.;.;U;.;.;.,.;.;P;.;.;.,.;.;P;.;.;.,.;.;P;.;.;.,.;.;P;.;.;.,.;.;P;.;.;.,0.9991;0.9992;0.9997;0.9993;0.9964;0.9991,0.99395,P;P;P;P;P;P,.;.;.;.;.;.;,.;.;.;.;.;.;,.;.;.;.;.;.;,.;.;.;.;.;.;,.;.;.;.;.;.;,.;.;.;.;.;.;,3.752603,0.70822,25.6,3.993126,0.82059,27.6,0.99871007549489466,0.94902,0.95234,0.63935,D,AEFDGBCI,0.950582,0.96435,D,1.00021282784151,0.95751,13.92782,0.905357736110644,0.95801,13.98345,0.999999999999836,0.74766,0.695654,0.57023,0,0.588015,0.36545,0,0.723109,0.80598,0,0.567892,0.33627,0,,,5.06,5.06,0.67838,6.092000,0.71061,7.722000,0.67351,0.549000,0.26987,1.000000,0.71638,1.000000,0.68203,0.999000,0.91618,0.0:1.0:0.0:0.0,17.3604,0.87237,302,0.87871,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,.;.;.;.;.;.,,,,SLC6A9,SLC6A9,ENSG00000196517,1,,GLYT1,P48067,SC6A9_HUMAN,6536,CCDS30695;CCDS41316;CCDS41317;CCDS85966,NM_001024845;NM_201649,uc001cln.5,601019,601019,solute carrier family 6 member 9,,,,"Nuclear Receptors Meta-Pathway;NRF2 pathway;Amine compound SLC transporters;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Na+/Cl- dependent neurotransmitter transporters",hsa00510;hsa01030,N-Glycan biosynthesis;Glycan structures - biosynthesis 1,FUNCTION: Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission.; ,,617301;,,289863;289860,Atypical glycine encephalopathy;Infantile glycine encephalopathy,Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in,Mean corpuscular volume[29403010];Autism spectrum disorder or schizophrenia[28540026];,HP:0002804;HP:0000369;HP:0000648;HP:0002015;HP:0002079;HP:0002267;HP:0000648;HP:0008936;HP:0002816;HP:0000527;HP:0001188;HP:0002987;HP:0001276;HP:0005280;HP:0000278;HP:0001388;HP:0025116;HP:0000243;HP:0002119;HP:0002827;HP:0001845;HP:0000252;HP:0001762;HP:0001298;HP:0000508;HP:0002104;HP:0003273;HP:0003577;HP:0000268;HP:0000007;HP:0000463;HP:0001263;HP:0002058;HP:0002169;HP:0002878,Arthrogryposis multiplex congenita;Low-set ears;Optic atrophy;Dysphagia;Hypoplasia of the corpus callosum;Exaggerated startle response;Optic atrophy;Muscular hypotonia of the trunk;Genu recurvatum;Long eyelashes;Hand clenching;Elbow flexion contracture;Hypertonia;Depressed nasal bridge;Retrognathia;Joint laxity;Fetal distress;Trigonocephaly;Ventriculomegaly;Hip dislocation;Overlapping toe;Microcephaly;Talipes equinovarus;Encephalopathy;Ptosis;Apnea;Hip contracture;Congenital onset;Dolichocephaly;Autosomal recessive inheritance;Anteverted nares;Global developmental delay;Myopathic facies;Clonus;Respiratory failure,"amino acid transmembrane transport;regulation of synaptic transmission, glycinergic;glycine secretion, neurotransmission",plasma membrane;integral component of plasma membrane;postsynaptic density;membrane;integral component of synaptic vesicle membrane;hippocampal mossy fiber to CA3 synapse;parallel fiber to Purkinje cell synapse;integral component of postsynaptic membrane;integral component of presynaptic membrane,glycine transmembrane transporter activity;glycine:sodium symporter activity,"Isoform GlyT-1A and isoform GlyT-1B can be found in brain, kidney, pancreas, lung, placenta and liver but isoform GlyT-1C is only found in brain.;",colon;placenta;brain;breast;unclassifiable (Anatomical System);,superior cervical ganglion;skeletal muscle;,IGHG1[15174051];TMEM17[26638075];TMEM216[26638075];THOC2[26496610];HIST1H1B[30021884];,TMEM17[26638075];UPK1A[28514442];TMEM216[26638075];THOC2[26496610];STX1A[10722844];,TRIM13[NA];RER1[NA];STAM[NA];SLC7A11[NA];STX10[NA];OSBP[NA];PALM[NA];WDR20[NA];SEMA4C[NA];PTPN2[NA];FZD6[NA];SLC5A3[NA];LRP8[NA];STEAP3[NA];CTNND1[NA];PGRMC2[NA];APPL1[NA];YIF1A[NA];TOLLIP[NA];SQSTM1[NA];CYFIP1[NA];MFAP3[NA];MB21D2[NA];ERICH5[NA];SPCS3[NA];ARFGAP3[NA];IGF2R[NA];SLC1A4[NA];LIN7C[NA];DSC2[NA];ADGRL2[NA];SLC20A2[NA];SLC4A7[NA];FAM219A[NA];SLC30A1[NA];USP6NL[NA];AP2S1[NA];ESYT2[NA];TNFRSF10B[NA];SCRIB[NA];TMEM30A[NA];FNDC3A[NA];ANO6[NA];DHRS7[NA];COPE[NA];BLZF1[NA];ATP1A1[NA];EHBP1[NA];GOSR2[NA];GPR180[NA];SLC12A7[NA];RABL6[NA];TMX1[NA];RPF2[NA];OSBPL8[NA];TMEM138[NA];LLGL1[NA];SNAP23[NA];CPNE8[NA];SLC12A6[NA];CYP51A1[NA];STOM[NA];NIPSNAP2[NA];SLC30A6[NA];PLEKHA1[NA];PDZD8[NA];TFG[NA];CBARP[NA];SEC24A[NA];TMEM115[NA];SLC29A1[NA];SCYL1[NA];SLC38A2[NA];NOTCH2[NA];PHACTR4[NA];FAM171A2[NA];DSG2[NA];FZD5[NA];VEZT[NA];GOPC[NA];CDCA3[NA];SLC12A2[NA];GOLGA5[NA];TMEM237[NA];IRS4[NA];ARFIP1[NA];SEMA6A[NA];NDRG1[NA];SCAMP1[NA];SCAMP4[NA];EMC3[NA];EMC7[NA];SLC38A1[NA];TMEM199[NA];PTPN1[NA];SLC35F2[NA];BET1[NA];MPP7[NA];GPR108[NA];HM13[NA];JAG2[NA];PDZD11[NA];CLCC1[NA];GPAT4[NA];SNX2[NA];STIM1[NA];CLCN7[NA];WDR6[NA];MARK2[NA];ARFGAP2[NA];BCAP31[NA];SLC5A6[NA];SCYL2[NA];VMA21[NA];SMPD4[NA];RHBDD3[NA];HLA-A[NA];CNNM3[NA];EMD[NA];STX16[NA];ATP2B1[NA];SEC23B[NA];MTMR6[NA];ADIPOR1[NA];MMGT1[NA];KIRREL1[NA];LSR[NA];SCAMP3[NA];NDUFS8[NA];RELL1[NA];NUMB[NA];LNPK[NA];RHBDD2[NA];ATP6AP2[NA];GORASP2[NA];COG3[NA];STAM2[NA];DLG1[NA];ESYT1[NA];TBC1D5[NA];FRS2[NA];KIAA0319L[NA];STX7[NA];ATP6V1F[NA];VAMP2[NA];EPS15[NA];USO1[NA];ANK3[NA];PANX1[NA];EPB41L1[NA];ZDHHC5[NA];ALDH3A2[NA];ALG9[NA];GGA3[NA];EMC1[NA];SLC33A1[NA];ARCN1[NA];ACSL3[NA];CACHD1[NA];SLC7A2[NA];SCYL3[NA];TNIK[NA];FERMT2[NA];EPHB4[NA];UNC5B[NA];LMAN1[NA];PKP4[NA];CAV1[NA];TMEM9[NA];CLINT1[NA];TMEM209[NA];CD99[NA];FAM171B[NA];CXADR[NA];HSPA12A[NA];JUP[NA];WDR41[NA];SCAMP2[NA];CASK[NA];SLC19A1[NA];GOSR1[NA];SPRY4[NA];CDKAL1[NA];ITGA6[NA];NBEA[NA];MKS1[NA];RAB23[NA];ROR2[NA];AP3M1[NA];JPH1[NA];GPR107[NA];PALD1[NA];NDC1[NA];EMC2[NA];SNX3[NA];ANKLE2[NA];GGA1[NA];UBXN4[NA];WASF2[NA];SLCO4A1[NA];RAB7A[NA];SLC39A14[NA];VANGL2[NA];VAMP7[NA];ADD3[NA];SLC20A1[NA];WDR11[NA];ATP7A[NA];PTK7[NA];ITM2B[NA];YKT6[NA];STX8[NA];SLC9A1[NA];FNBP1[NA];SLC39A6[NA];LYN[NA];STX12[NA];TMEM87A[NA];ZDHHC20[NA];SLC1A3[NA];HMOX2[NA];FAM91A1[NA];CNNM2[NA];ITM2C[NA];VAMP8[NA];ATP6AP1[NA];MPZL1[NA];LNPEP[NA];SLC35B3[NA];MCAM[NA];VAMP3[NA];NECTIN2[NA];SEC23A[NA];ARFIP2[NA];SENP2[NA];MPP1[NA];SLC6A8[NA];EFNB1[NA];STX6[NA];EMC8[NA];CCDC115[NA];ABCC1[NA];PLEKHA5[NA];LRBA[NA];FLVCR1[NA];THEM6[NA];SEC23IP[NA];PRKCI[NA];VPS45[NA];ATP2C1[NA];DDRGK1[NA];NETO2[NA];AP1B1[NA];EFNB2[NA];NOTCH1[NA];SCFD1[NA];CKAP4[NA];ROR1[NA];CCDC47[NA];B9D1[NA];ACBD3[NA];TOR1AIP1[NA];COPA[NA];EPN2[NA];VKORC1L1[NA];NSDHL[NA];BET1L[NA];VRK2[NA];CAMLG[NA];SLC1A5[NA];MARVELD2[NA];SLC6A15[NA];FAM129B[NA];SOAT1[NA];WDR77[NA];PREB[NA];LBR[NA];SEC31A[NA];TBC1D22B[NA];PPFIBP1[NA];PACSIN2[NA];INSR[NA];FLOT2[NA];ZC3HAV1[NA];UBIAD1[NA];LYSMD3[NA];OCLN[NA];DVL1[NA];PCDH7[NA];VANGL1[NA];ARHGAP1[NA];SCARB1[NA];SEC24B[NA];VAMP4[NA];HGS[NA];PLD3[NA];ABCC5[NA];SLC3A2[NA];AP4E1[NA];EPHA2[NA];NUP155[NA];SHISA2[NA];SLC7A1[NA];SLC7A5[NA];YWHAH[NA];OCRL[NA];DEPDC1B[NA];LRP6[NA];EPN1[NA];SEC63[NA];AP4B1[NA];LEMD3[NA];BAIAP2L1[NA];SLC12A4[NA];RAB11FIP5[NA];OSBPL11[NA];CPD[NA];SLC30A5[NA];SLC39A10[NA];TMEM17[NA];EBAG9[NA];TMEM51[NA];AUP1[NA];CLNS1A[NA];SRPRA[NA];SLC6A6[NA];SNAP47[NA];GORAB[NA];MARK3[NA];VPS51[NA];UBE2J1[NA];PDXDC1[NA];COPG1[NA];ITGB1[NA];SMAP2[NA];BTF3[NA];ATP11C[NA];PAK4[NA];AHCYL1[NA];RABL3[NA];FAM234A[NA];ARL13B[NA];STX5[NA];TVP23B[NA];SMCR8[NA];EXOC3[NA];SEC22B[NA];HIP1[NA];GPAT3[NA];TFRC[NA];SEC11A[NA];MARCKSL1[NA];MOSPD2[NA];PGRMC2[NA];CTNND1[NA];STEAP3[NA];STAM[NA];RER1[NA];TRIM13[NA];TMX4[NA];TEX264[NA];OSBP[NA];STX10[NA];VMP1[NA];SLC4A7[NA];SLC20A2[NA];DHRS7[NA];ANO6[NA];ARFGAP3[NA];IGF2R[NA];AGPAT1[NA];SLC30A6[NA];NCOA2[NA];SNAP23[NA];TMEM115[NA];PDZD8[NA];OSBPL8[NA];TMX1[NA];USE1[NA];GOLGA5[NA];SLC12A2[NA];CDCA3[NA];EMC3[NA];SCAMP1[NA];SEMA6A[NA];SLC38A2[NA];GOPC[NA];VEZT[NA];STIM1[NA];GOLGA3[NA];JAGN1[NA];CLCN7[NA];PTPN1[NA];TMEM199[NA];SLC38A1[NA];GPAT4[NA];CLCC1[NA];BET1[NA];EMD[NA];MMGT1[NA];VMA21[NA];LRRC59[NA];BCAP31[NA];STX5[NA];SMPD4[NA];SCYL3[NA];ACSL3[NA];EMC1[NA];SLC33A1[NA];ALG9[NA];DNAJC1[NA];CD99[NA];TMEM209[NA];RTN4[NA];TMEM9[NA];LMAN1[NA];GORASP2[NA];RHBDD2[NA];ATP6AP2[NA];LNPK[NA];RELL1[NA];CERS2[NA];LSR[NA];SPCS2[NA];VAMP2[NA];STX7[NA];ESYT1[NA];WDR11[NA];LPCAT1[NA];RAB7A[NA];UBXN4[NA];TMPO[NA];SLC39A6[NA];POR[NA];YKT6[NA];STX8[NA];SFT2D3[NA];WDR41[NA];CXADR[NA];EMC2[NA];ANKLE2[NA];GPR107[NA];JPH1[NA];NDC1[NA];ROR2[NA];CDKAL1[NA];GOSR1[NA];EIF2AK3[NA];NECTIN2[NA];VAMP3[NA];SLC39A7[NA];MCAM[NA];TMEM214[NA];CYB5B[NA];EFNB1[NA];STX6[NA];EMC8[NA];SLC6A8[NA];FAM91A1[NA];VAPB[NA];HMOX2[NA];TMEM87A[NA];STX12[NA];CISD2[NA];ATP6AP1[NA];VAPA[NA];ITM2C[NA];ACBD3[NA];GBA2[NA];GOLT1B[NA];TOR1AIP1[NA];CKAP4[NA];CCDC47[NA];SCFD1[NA];EFNB2[NA];DDRGK1[NA];VANGL1[NA];OCLN[NA];LYSMD3[NA];CAMLG[NA];SLC1A5[NA];VRK2[NA];SGPL1[NA];BET1L[NA];NSDHL[NA];LBR[NA];PREB[NA];SLC6A15[NA];SLC7A5[NA];LEMD3[NA];SEC63[NA];TMEM216[NA];SEC24B[NA];KTN1[NA];ARHGAP1[NA];ANO10[NA];NUP155[NA];SLC3A2[NA];AUP1[NA];SRPRA[NA];TMEM51[NA];ITGB1[NA];ARL6IP5[NA];PDXDC1[NA];UBE2J1[NA];SLC30A5[NA];CPD[NA];SLC12A4[NA];MTDH[NA];SLC39A10[NA];SEC11A[NA];CHP1[NA];TFRC[NA];CD99L2[NA];GPAT3[NA];MARCKSL1[NA];PDCL[NA];RABL3[NA];SEC22B[NA];TRIM13[NA];STAM[NA];STX10[NA];NDUFS3[NA];PALM[NA];MAP4K4[NA];PKP2[NA];CTNND1[NA];PGRMC2[NA];STEAP3[NA];ADCY9[NA];SQSTM1[NA];MB21D2[NA];AKT2[NA];ARFGAP3[NA];SLC1A4[NA];EXOC4[NA];IGF2R[NA];ADGRL2[NA];SLC30A1[NA];SLC4A7[NA];SLC20A2[NA];SCRIB[NA];ESYT2[NA];DHRS7[NA];ANO6[NA];COPE[NA];BLZF1[NA];GOSR2[NA];EHBP1[NA];ATP1A1[NA];OSBPL8[NA];DST[NA];TMX1[NA];RABL6[NA];SLC12A7[NA];CYP51A1[NA];SNAP23[NA];CPNE8[NA];PLEKHA1[NA];SLC30A6[NA];STOM[NA];KIAA1549[NA];SEC24A[NA];CBARP[NA];LRP2[NA];SLC29A1[NA];PHACTR4[NA];SLC38A2[NA];NOTCH2[NA];YES1[NA];DSG2[NA];FAM171A2[NA];VEZT[NA];GOPC[NA];TMEM237[NA];SLC12A2[NA];GOLGA5[NA];CDCA3[NA];ARFIP1[NA];IRS4[NA];NDRG1[NA];EMC3[NA];RAB2A[NA];SCAMP1[NA];SLC38A1[NA];SLC35F2[NA];PTPN1[NA];TMEM199[NA];MPP7[NA];GPAT4[NA];CLCC1[NA];EFR3B[NA];JAG2[NA];PDZD11[NA];STIM1[NA];WDR6[NA];CLCN7[NA];ARFGAP2[NA];GPRC5A[NA];MARK2[NA];BCAP31[NA];VMA21[NA];SLC5A6[NA];SMPD4[NA];PTPN13[NA];RHBDD3[NA];HLA-A[NA];TENM3[NA];CNNM3[NA];EMD[NA];ATP2B1[NA];MMGT1[NA];KIRREL1[NA];SEC23B[NA];ATP6AP2[NA];RHBDD2[NA];RELL1[NA];NUMB[NA];SCAMP3[NA];LSR[NA];DLG1[NA];STIM2[NA];COG3[NA];STAM2[NA];PIGU[NA];GORASP2[NA];STX7[NA];TBC1D5[NA];ESYT1[NA];EPB41L1[NA];PANX1[NA];ATP2B4[NA];USO1[NA];EPS15[NA];ALDH3A2[NA];ZDHHC5[NA];PRRT3[NA];SCYL3[NA];CACHD1[NA];SLC7A2[NA];ACSL3[NA];PIK3R1[NA];ARCN1[NA];EMC1[NA];LMAN1[NA];UNC5B[NA];FERMT2[NA];CD99[NA];TMEM9[NA];KIDINS220[NA];CAV1[NA];PKP4[NA];JUP[NA];CXADR[NA];HSPA12A[NA];FAM171B[NA];DDX54[NA];SLC19A1[NA];CASK[NA];RASAL2[NA];ERBIN[NA];ROR2[NA];ITGA6[NA];MKS1[NA];CDKAL1[NA];SPRY4[NA];GOSR1[NA];EMC2[NA];NDC1[NA];PODXL[NA];JPH1[NA];CYB5R3[NA];GPR107[NA];SLCO4A1[NA];RAB7A[NA];ISCA1[NA];UBXN4[NA];ATP7A[NA];WDR11[NA];RAB11B[NA];SLC20A1[NA];VANGL2[NA];NCKAP1[NA];SLC39A14[NA];ADD3[NA];VAMP7[NA];SLC39A6[NA];SLC9A1[NA];STX8[NA];YKT6[NA];LYN[NA];ZDHHC20[NA];TMEM87A[NA];STX12[NA];CNNM2[NA];TRIP11[NA];FAM91A1[NA];SLC1A3[NA];HMOX2[NA];ATP6AP1[NA];VAMP8[NA];LNPEP[NA];FAM171A1[NA];SLCO4C1[NA];NECTIN2[NA];VAMP3[NA];MCAM[NA];RAI14[NA];SEC23A[NA];ABCC1[NA];STX6[NA];EMC8[NA];EFNB1[NA];SLC6A8[NA];FLVCR1[NA];LRBA[NA];PLEKHA5[NA];SEC23IP[NA];VPS45[NA];NOTCH1[NA];EFNB2[NA];GCC1[NA];TOR1AIP1[NA];ACBD3[NA];CCDC47[NA];CKAP4[NA];SCFD1[NA];COPA[NA];BET1L[NA];NSDHL[NA];SLC1A5[NA];CAMLG[NA];VRK2[NA];FAM129B[NA];SLC6A15[NA];LBR[NA];PREB[NA];WDR77[NA];UTRN[NA];SOAT1[NA];PPFIBP1[NA];UNC5C[NA];FLOT2[NA];INSR[NA];PACSIN2[NA];UBIAD1[NA];ZC3HAV1[NA];VANGL1[NA];KTN1[NA];ABCE1[NA];HGS[NA];VAMP4[NA];SEC24B[NA];ABCC5[NA];EPHA2[NA];SLC3A2[NA];SHISA2[NA];EPB41L5[NA];DEPDC1B[NA];APBB1[NA];YWHAH[NA];SLC7A5[NA];LEMD3[NA];NSA2[NA];SLC12A4[NA];BAIAP2L1[NA];SLC30A5[NA];CPD[NA];OSBPL11[NA];SLC39A10[NA];TMEM17[NA];SRPRA[NA];CLNS1A[NA];TMEM51[NA];RAB5B[NA];SNAP47[NA];SLC6A6[NA];PDXDC1[NA];VPS51[NA];MARK3[NA];SMAP2[NA];ITGB1[NA];RABL3[NA];AHCYL1[NA];PAK4[NA];ATP11C[NA];STX5[NA];AKAP5[NA];SEC22B[NA];EXOC3[NA];SEC11A[NA];TFRC[NA];MOSPD2[NA];FTSJ1[NA];GABRR1[0.996];STX1A[0.812];PRKCA[0.795];TMEM17[0.882];TMEM216[0.220];THOC2[0.024];UPK1A[0.975],0.33742,0.638582646846771,Y,0.530699699,0.18430,,-0.71,14.67,0.05908582,-1.027908109,8.583820252,0.0442530405880805,0.955512482401763,0.000234477010156261,0.38704712096522,0.61286678890589,8.60901288902071e-05,0.0199596023687268,0.979088573228516,0.000951824402757548,1.0618e-01,8.9257e-01,1.2540e-03,1.23881169306854,0.73037708167078,1.07927077360882,N,90.55117,2.04822,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,5.67E-01,0.0011980830670926,0.0,0.0011980830670926,0.0,0.0587060702875399,0.0031948881789137,0.020367412140575,0.0007987220447284345,E,N,N,H,0.860167521807743,E,Slc6a9,"homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; ",slc6a9,post-vent region,movement quality,abnormal,0.9998900673801139,Unknown,tools
2,ABLIM1,0,,GRCh38,chr10,114488001,114488001,+,Missense_Mutation,SNP,T,T,C,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,T,T,,,,,,,,,,,,,,,,c.998A>G,p.His333Arg,p.H333R,ENST00000277895,8/23,47,35,12,74,74,0,"ABLIM1,missense_variant,p.His273Arg,ENST00000533213,;ABLIM1,missense_variant,p.His333Arg,ENST00000277895,;ABLIM1,missense_variant,p.His17Arg,ENST00000392952,;ABLIM1,missense_variant,p.His273Arg,ENST00000369252,;ABLIM1,missense_variant,p.His17Arg,ENST00000369253,;ABLIM1,missense_variant,p.His17Arg,ENST00000369266,;ABLIM1,missense_variant,p.His17Arg,ENST00000428430,;ABLIM1,upstream_gene_variant,,ENST00000440467,;ABLIM1,missense_variant,p.His273Arg,ENST00000392955,;ABLIM1,missense_variant,p.His273Arg,ENST00000369256,;",C,ENSG00000099204,ENST00000277895,Transcript,missense_variant,1096,998,333,H/R,cAt/cGt,"COSM1474374,COSM1474373,COSM1474375",,,-1,ABLIM1,HGNC,78,protein_coding,YES,CCDS7590.1,ENSP00000277895,ABLM1_HUMAN,,UPI0000418D06,,deleterious(0),probably_damaging(0.988),8/23,,"PROSITE_profiles:PS50023,hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716",,,,,,,,,,,"1,1,1",,,,,,MODERATE,,SNV,,,"1,1,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,CGGGATGCCAA,,5,H,R,,10,116247760,10,116237750,17;273;273;273;17;17;273;333;333;17,ABLIM1;ABLIM1;ABLIM1;ABLIM1;ABLIM1;ABLIM1;ABLIM1;ABLIM1;ABLIM1;ABLIM1,ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204;ENSG00000099204,ENST00000392952;ENST00000392955;ENST00000533213;ENST00000369252;ENST00000369253;ENST00000369266;ENST00000369256;ENST00000277895;ENST00000649363;ENST00000428430,ENSP00000376679;ENSP00000376682;ENSP00000433629;ENSP00000358256;ENSP00000358257;ENSP00000358270;ENSP00000358260;ENSP00000277895;ENSP00000497150;ENSP00000400934,O14639-5;O14639-2;F8W8M4;A0A0A0MRL6;O14639-4;J3QSX6;O14639-6;O14639;A0A3B3IS55;F6XFR5,ABLM1_HUMAN;ABLM1_HUMAN;F8W8M4_HUMAN;A0A0A0MRL6_HUMAN;ABLM1_HUMAN;J3QSX6_HUMAN;ABLM1_HUMAN;ABLM1_HUMAN;A0A3B3IS55_HUMAN;F6XFR5_HUMAN,c.50A>G;c.818A>G;c.818A>G;c.818A>G;c.50A>G;c.50A>G;c.818A>G;c.998A>G;.;.,p.H17R;p.H273R;p.H273R;p.H273R;p.H17R;p.H17R;p.H273R;p.H333R;.;.,c.50A>G;c.818A>G;c.818A>G;c.818A>G;c.50A>G;c.50A>G;c.818A>G;c.998A>G;.;c.50A>G,p.His17Arg;p.His273Arg;p.His273Arg;p.His273Arg;p.His17Arg;p.His17Arg;p.His273Arg;p.His333Arg;.;p.His17Arg,c.50A>G;c.818A>G;c.818A>G;c.818A>G;c.50A>G;c.50A>G;c.818A>G;c.998A>G;c.998A>G;c.50A>G,p.His17Arg;p.His273Arg;p.His273Arg;p.His273Arg;p.His17Arg;p.His17Arg;p.His273Arg;p.His333Arg;p.His333Arg;p.His17Arg,.;alternative2;alternative2;alternative2;.;.;alternative2;principal3;alternative2;.,Y;Y;Y;Y;Y;Y;Y;Y;Y;.,5;5;5;5;5;5;5;5;.;3,.;.;.;.;.;.;.;YES;.;.,-;-;-;-;-;-;-;-;-;-,CAT;CAT;CAT;CAT;CAT;CAT;CAT;CAT;CAT;CAT,2;2;2;2;2;2;2;2;2;2,0;0;0;0;0;0;0;0;0;0,T,T/T,T/T,T/T,T/T,0.0;.;0.001;0.001;0.0;0.0;.;0.0;.;0.001,0.91255,D;.;D;D;D;D;.;D;.;D,0.0;0.001;0.001;0.001;0.0;0.0;0.001;0.001;.;.,0.92824,D;D;D;D;D;D;D;D;.;.,1.0;.;0.285;.;0.532;.;.;0.985;.;.,0.90584,D;.;B;.;P;.;.;D;.;.,0.999;.;0.279;.;0.595;.;.;0.887;.;.,0.92359,D;.;B;.;P;.;.;P;.;.,0.000000,0.84330,D,0.000000,1;1;0.999991;0.999888;1;1;0.999998;1;0.999991,0.81001,D;D;D;D;D;D;D;D;D,simple_aae;simple_aae;simple_aae;simple_aae;simple_aae;simple_aae;simple_aae;simple_aae;simple_aae,H333R;H273R;H17R;H17R;H257R;H333R;H17R;H273R;H17R,.;.;.;.;.;.;.;2.685;.;.,0.78553,.;.;.;.;.;.;.;M;.;.,-0.27;.;1.56;1.56;0.05;-0.22;.;1.52;.;0.49,0.67367,T;.;T;T;T;T;.;T;.;T,-5.47;.;-7.62;-7.62;-6.27;-5.74;.;-7.65;.;-7.86,0.96085,D;.;D;D;D;D;.;D;.;D,0.974;0.964;0.962;0.919;0.979;0.981;0.96;0.963;.;.,0.99100,0.3340,0.88090,D,0.5637,0.84147,D,10,0.83687955;0.83687955;0.83687955;0.83687955;0.83687955;0.83687955;0.83687955;0.83687955;0.83687955;0.83687955,0.82843,D;D;D;D;D;D;D;D;D;D,0.138465,0.82095,D,0.707;.;0.707;0.707;0.707;0.707;0.707;0.707;.;0.707,0.89514,.;.;.;.;.;.;.;0.615;0.615;.;,0.74884,.;.;.;.;.;.;.;O14639;O14639;.;,.;.;.;.;.;.;.;H333R;H333R;.;,.;.;.;.;.;.;.;Gain of MoRF binding (P = 0.0082);Gain of MoRF binding (P = 0.0082);.;,0.914154397838;0.914154397838;0.914154397838;0.914154397838;0.914154397838;0.914154397838;0.914154397838;0.914154397838;.;0.914154397838,0.91329,.;.;.;.;.;.;.;0.8163477905600826;.;.,0.81590,.;.;.;.;.;.;.;1.28727837;.;.,0.82687,0.746271252632,0.73896,T,.;.;.;0.174202;.;0.199798;.;0.627762;.;0.305399,0.88422,.;.;.;T;.;T;.;D;.;T,0.371071,0.88127,D,0.295241,0.87976,D,0.99771511554718,0.92238,D,0.998879;0.998879;0.998879;0.993001;0.983635;0.983635;0.993001;0.998879;0.993001;0.998879,0.99415,D;D;D;D;D;D;D;D;D;D,.;.;.;.;.;.;.;0.8990343;.;.,0.91297,.;.;.;.;.;.;.;0.8918354;.;.,0.94397,.;.;.;.;.;.;.;0.8990343;.;.,0.91298,.;.;.;.;.;.;.;0.8918354;.;.,0.94398,-15.971;-17.261;.;.;-16.306;.;-17.056;-17.09;.;.,0.99348,D;D;.;.;D;.;D;D;.;.,.;.;.;.;.;.;.;.;.;.,,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,.;.;.;.;.;.;.;.;.;.,0.976;0.9993;0.9994;0.9989;0.9752;0.9768;0.9985;0.9996;0.9992;0.9941,0.99219,P;P;P;P;P;P;P;P;P;P,.;.;.;.;.;.;.;.;.;.;,.;.;.;.;.;.;.;.;.;.;,.;.;.;.;.;.;.;.;.;.;,.;.;.;.;.;.;.;.;.;.;,.;.;.;.;.;.;.;.;.;.;,.;.;.;.;.;.;.;.;.;.;,4.036268,0.79866,27.2,3.796272,0.75358,26.2,0.99651991182719291,0.77380,0.96612,0.70016,D,AEFBCIJ,0.886280,0.81754,D,0.625412594027644,0.74785,6.192231,0.650061777945699,0.78616,6.912042,0.999999999228743,0.74766,0.75658,0.98901,0,0.709663,0.81188,0,0.644132,0.48003,0,0.656636,0.63459,0,,,5.81,5.81,0.92413,7.811000,0.84631,7.866000,0.71703,0.665000,0.62972,1.000000,0.71638,1.000000,0.68203,0.983000,0.59808,0.0:0.0:0.0:1.0,13.6931,0.62039,781,0.47532,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,".;.;Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type;.;Putative adherens-junction anchoring domain;.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.",,,,ABLIM1,ABLIM1,ENSG00000099204,10,LIMAB1;ABLIM,abLIM;limatin,O14639,ABLM1_HUMAN,3983,CCDS7590;CCDS31289;CCDS31288;CCDS81508;CCDS81509,NM_001003407,uc057wcy.1,602330,602330,actin binding LIM protein 1,,,,Axon guidance - Homo sapiens (human);Developmental Biology;DCC mediated attractive signaling;Netrin-1 signaling;Axon guidance,hsa04360,Axon guidance,"FUNCTION: May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance. {ECO:0000250, ECO:0000269|PubMed:9245787}.; ",,,,,,,Obesity-related traits[23251661];Paclitaxel disposition in epithelial ovarian cancer[29367611];,,,cytoskeleton organization;visual perception;animal organ morphogenesis;lamellipodium assembly;cilium assembly,stress fiber;cytoplasm;actin cytoskeleton;lamellipodium,actin binding;protein binding;metal ion binding;actin filament binding,"Detected in liver, heart, skeletal muscle, brain and retina, where it is concentrated in the inner segment and in the outer plexiform layers. {ECO:0000269|PubMed:9245787}.;",cochlea;pharynx;cerebellum cortex;stomach;lacrimal gland;testis;pineal gland;choroid;larynx;kidney;uterus;whole body;pancreas;bile duct;hypopharynx;urinary;skeletal muscle;islets of Langerhans;visual apparatus;fovea centralis;liver;germinal center;heart;lung;salivary gland;thyroid;sympathetic chain;placenta;nasopharynx;optic nerve;intestine;skin;pituitary gland;lens;unclassifiable (Anatomical System);cerebellum;retina;head and neck;mammary gland;tonsil;cervix;cartilage;endometrium;bone;parathyroid;brain;blood;cerebral cortex;ovary;macula lutea;lymph node;bladder;frontal lobe;oral cavity;colon;aorta;prostate;breast;hypothalamus;,superior cervical ganglion;trigeminal ganglion;cerebellum 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47[NA];SMG7[NA];CEP290[NA];TBC1D31[NA];WASHC3[NA];HAUS7[NA];TANC1[NA];EIF4ENIF1[NA];CDK5[NA];NCKAP1[NA];NFATC3[NA];IFT81[NA];AGTPBP1[NA];SPICE1[NA];CKAP5[NA];NDE1[NA];TRIM26[NA];PEF1[NA];IPO11[NA];LZTS3[NA];PKN2[NA];CCDC14[NA];TXLNA[NA];PROSER3[NA];TTLL5[NA];NIN[NA];DSP[NA];HAUS2[NA];TP53BP2[NA];BMI1[NA];IPO8[NA];SIPA1L2[NA];LUZP1[NA];CEP85L[NA];MB21D2[NA];CCNB2[NA];WASHC2C[NA];IFT46[NA];ARFGAP3[NA];TRIM9[NA];ANKRD26[NA];EXOC4[NA];SLAIN2[NA];DTNB[NA];AP2S1[NA];CYLD[NA];SPATA24[NA];MIB1[NA];CCDC66[NA];NAV1[NA];IBTK[NA];CEP170[NA];CRK[NA];WASHC5[NA];SCLT1[NA];CAMSAP1[NA];LTV1[NA];SPATA2L[NA];PM20D2[NA];ALMS1[NA];TEX9[NA];HAUS8[NA];CCDC112[NA];TTK[NA];CAMSAP2[NA];PCBP3[NA];CSNK1D[NA];NCKAP5L[NA];IFT74[NA];TRIM41[NA];IQCB1[NA];RAD50[NA];KIF14[NA];USP54[NA];DDX47[NA];CSNK1A1[NA];CCDC18[NA];NDEL1[NA];ASCC3[NA];NINL[NA];FOPNL[NA];ERC1[NA];CTNNAL1[NA];CEP55[NA];GID8[NA];CEP89[NA];CC2D1A[NA];MPP5[NA];BICD1[NA];OFD1[NA];CEP164[NA];TCHP[NA];ANKRD28[NA];TANK[NA];NEBL[NA];RPGRIP1L[NA];PDZD11[NA];TTF2[NA];CEP97[NA];SRSF2[NA];PALLD[NA];STK3[NA];TRIM37[NA];ERLIN2[NA];HAUS5[NA];FGFR1OP[NA];DBT[NA];SH3GLB1[NA];KIF7[NA];GNB1[NA];CDC20[NA];GPATCH1[NA];WASHC4[NA];SSX2IP[NA];WDR83[NA];TNRC6B[NA];DDX3X[NA];NEK2[NA];CEP85[NA];KIAA1671[NA];IFT81[NA];MRE11[NA];CLINT1[NA];CEP72[NA];CSPP1[NA];CEP120[NA];ODF2[NA];MPHOSPH9[NA];NEDD1[NA];INA[NA];GIGYF1[NA];CCDC138[NA];CEP131[NA];TBK1[NA];WRAP73[NA];SPATA18[NA];DHX35[NA];CEP128[NA];CEP55[NA];TNIP1[NA];IFT74[NA];NCKAP5L[NA];CCDC102A[NA];LMO7[NA];PIBF1[NA];KIF14[NA];LIMD1[NA];PLEKHG1[NA];TTK[NA];SSX2IP[NA];FGFR1OP[NA];GPATCH1[NA];PALLD[NA];OFD1[NA];TCHP[NA];EIF4ENIF1[NA];NME7[NA];CEP192[NA];SIPA1L1[NA];CYLD[NA];CRK[NA];TRAF7[NA];IBTK[NA];CEP170[NA];TRIM9[NA];SIPA1L2[NA];LUZP1[NA];CRKL[NA];TP53BP2[NA];CBY1[0.926];REPIN1[NA];MYO1E[NA];CEP162[NA];EPS15[NA];ARPC2[NA];ACTR3[NA];VARS[NA];CLTC[NA];QSER1[NA];CPM[NA];COBL[NA];ARPC4[NA];TPRN[NA];ACTRT1[NA];BMP2K[NA];CAPZB[NA];CALM3[NA];SOAT1[NA];SORD[NA];MYO5C[NA];ACTG1[NA];RAI14[NA];LUZP1[NA];MISP[NA];AP2M1[NA];GNAI2[NA];CLTB[NA];MYL12A[NA];TPM3[NA];ARPC3[NA];SPECC1L[NA];TPM4[NA];ACTN4[NA];SVIL[NA];PDLIM7[NA];AP2A1[NA];PLEC[NA];MPRIP[NA];ACTN1[NA];CALML3[NA];CLTA[NA];SPTAN1[NA];MYL6B[NA];MYO5A[NA];TMOD1[NA];SYNPO[NA];PALLD[NA];ELOB[NA];MYL6[NA];MYO1B[NA];MYH9[NA];FLNA[NA];GNB1[NA];ATP6V1A[NA];ARPC5L[NA];SPTBN1[NA];TPM2[NA];CAPZA2[NA];AKAP2[NA];CLINT1[NA];MYO1E[NA];ZDHHC5[NA];PPP1R12A[NA];ARPC2[NA];EPS15[NA];CEP162[NA];SPECC1[NA];ACTR3[NA];GNAS[NA];LRRFIP2[NA];ADD3[NA];CLTC[NA];AFAP1[NA];COBL[NA];CPM[NA];ARPC4[NA];TPRN[NA];CSNK1G3[NA];HMGB2[NA];CTTN[NA];GNB2[NA];ARPC5[NA];BMP2K[NA];TWF1[NA];ZBTB20[NA];ARHGAP21[NA];NEXN[NA];LMO7[NA];CAPZB[NA];PACSIN3[NA];FLOT2[NA];PLCD3[NA];FARP1[NA];RAF1[NA];GNAI3[NA];SIPA1L3[NA];CORO1C[NA];ARPC1B[NA];FLOT1[NA];PPP1R12B[NA];CYBRD1[NA];DAB2[NA];ACTB[NA];MYO5C[NA];PPP1CB[NA];PPP1R9B[NA];CORO2A[NA];LUZP1[NA];MYO6[NA];GSN[NA];CORO1B[NA];RAI14[NA];PPP1R18[NA];LIMA1[NA];CD44[NA];APC[NA];FLNB[NA];POC1A[NA];AP2M1[NA];MISP[NA];RRAS2[NA];CLTB[NA];BASP1[NA];PALM[NA];MYO19[NA];GNAI2[NA];ACTR2[NA];DBN1[NA];ITPR3[NA];PHLDB2[NA];SPECC1L[NA];PPP1CC[NA];ARPC3[NA];HLTF[NA];TNFAIP1[NA];DAPK3[NA];ACTN4[NA];SSH2[NA];ARHGEF17[NA];ABCG2[NA];STON2[NA];WDR1[NA];AP2A1[NA];CFL1[NA];SVIL[NA];ITPR1[NA];MYO1C[NA];ARHGAP11A[NA];MYO5B[NA];TMEM201[NA];PLEC[NA];ACTN1[NA];MPRIP[NA];NAP1L4[NA];CLIC1[NA];CLTA[NA];SIPA1L1[NA];CFL2[NA];INF2[NA];SPTAN1[NA];LZTS2[NA];PPP1R9A[NA];TWF2[NA];SORBS2[NA];SPTBN2[NA];ANXA2[NA];CGN[NA];FLII[NA];MYO5A[NA];TMOD1[NA];SYNPO[NA];JUP[NA];TMOD3[NA];CD59[NA];PIK3C2A[NA];GPRC5A[NA];CAMK2G[NA];MYO1B[NA];FLNA[NA];GNB1[NA];PPP1CA[NA];EEF1D[NA];ARPC5L[NA];SPTBN1[NA];SEC16A[NA];CAPZA2[NA];AKAP2[NA];MYO18A[NA];TPM2[NA];CD109[NA];DSG2[NA];YWHAH[NA];TNIP1[NA];SEC24B[NA];ABCE1[NA];CEP76[NA];HAUS3[NA];CALM3[NA];HAUS1[NA];CCP110[NA];CCDC85C[NA];MPHOSPH9[NA];NEDD1[NA];CLASP1[NA];ATXN10[NA];ADSL[NA];MAPRE2[NA];KIAA0753[NA];CCDC138[NA];LRRC49[NA];SEC23A[NA];DVL3[NA];CEP131[NA];WRAP73[NA];VCPIP1[NA];HAUS7[NA];DCP1B[NA];CENPH[NA];TNRC6A[NA];NAA10[NA];CSPP1[NA];CENPJ[NA];ARMT1[NA];HAUS6[NA];PSMC4[NA];TNRC6B[NA];MOB4[NA];C5orf51[NA];SSX2IP[NA];SEC23B[NA];WASHC2A[NA];PFDN4[NA];CKB[NA];BTF3[NA];GPATCH1[NA];ENO2[NA];CEP97[NA];TPGS1[NA];PALLD[NA];IPO9[NA];OFD1[NA];PLK1[NA];CEP85[NA];TCHP[NA];BAIAP2L1[NA];TRIO[NA];XRN1[NA];MLLT10[NA];RFC5[NA];AP3D1[NA];CRTC3[NA];CNOT1[NA];CAMSAP2[NA];KIF14[NA];COMMD4[NA];RIOK2[NA];CNOT10[NA];RABL6[NA];CAMSAP1[NA];HAUS8[NA];TTK[NA];AAR2[NA];SEC16A[NA];ALMS1[NA];COPS3[NA];YWHAG[NA];IBTK[NA];CEP170[NA];MB21D2[NA];RAB18[NA];PKN2[NA];TP53BP2[NA];FBXO22[NA];SNX27[NA];RELA[NA];SMG7[NA];GPX1[NA];DDX54[NA];YWHAE[NA];CEP192[NA];AP3B1[NA];PTPN12[NA];FERMT2[NA];UNC45A[NA];CLTC[NA];AFAP1[NA];CEP162[NA];EPS15[NA];ACTR3[NA];SPECC1[NA];CLINT1[NA];PPP1R12A[NA];MYO1E[NA];GNB2[NA];BMP2K[NA];TWF1[NA];PLEKHG3[NA];ZBTB20[NA];ARHGAP21[NA];HMGB2[NA];CTTN[NA];ARPC4[NA];FSCN1[NA];TES[NA];TPRN[NA];CHMP4B[NA];COBL[NA];CPM[NA];MYO5C[NA];DIXDC1[NA];DAB2[NA];ACTG1[NA];ACTB[NA];PPP1R9B[NA];CORO2A[NA];CORO1C[NA];GNG12[NA];CYBRD1[NA];FLOT1[NA];ARP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[NA];SPECC1[NA];UNC45A[NA];FBXO30[NA];CDKN2A[NA];SPTAN1[NA];GTF2F1[NA];RALA[NA];CEP162[NA];MRPL55[NA];RBM5[NA];NSRP1[NA];PPP1R12A[NA];ADD1[NA];MPRIP[NA];SYNPO[NA];TMOD1[NA];TMOD3[NA];FLII[NA];MYO5A[NA];AFAP1[NA];AP3M1[NA];TRIOBP[NA];SAFB2[NA];SORBS2[NA];MED15[NA];TWF2[NA];TADA3[NA];SPTBN2[NA];IMPDH1[NA];BASP1[NA];RBM17[NA];CARD10[NA];RBM33[NA];LIMA1[NA];JMY[NA];RAI14[NA];MRM1[NA];WDR1[NA];CLASP1[NA];DSTN[NA];PHLDB2[NA];IMPDH2[NA];KCTD10[NA];ARPC3[NA];DOCK7[NA];RBM10[NA];MED12[NA];DDX39B[NA];FARP1[NA];TRIR[NA];TJP2[NA];NEXN[NA];CALM3[NA];CORO2A[NA];SQOR[NA];ACTG1[NA];DIXDC1[NA];ARPC1B[NA];CHCHD3[NA];CORO1C[NA];SIPA1L3[NA];TPRN[NA];SF3B1[NA];CCAR1[NA];EIF3B[NA];PNPO[NA];U2SURP[NA];COBL[NA];FBXO46[NA];ARHGAP21[NA];PLEKHG3[NA];AGGF1[NA];TWF1[NA];CRIP2[NA];HMGB2[NA];TTN[0.995];TRAF2[0.194];NMT1[NA];RNH1[NA];ZC3H15[NA];CEP19[NA];CEP192[NA];KIFAP3[NA];SCYL3[NA];FERMT2[NA];MTR[NA];UNC45A[NA];DICER1[NA];OGA[NA];FKBP3[NA];FGFR1OP[NA];STK24[NA];IPO9[NA];ANKRD28[NA];GTF3C3[NA];ANAPC1[NA];MSH6[NA];CC2D1A[NA];AP3D1[NA];PLEKHA1[NA];NVL[NA];NUDT19[NA];NCK2[NA];RABL6[NA];NT5C2[NA];CCT7[NA];SDAD1[NA];SRP72[NA];DVL2[NA];METTL3[NA];CRK[NA];SEC23IP[NA];HBS1L[NA];TBCE[NA];MAPRE1[NA];ILKAP[NA];DVL3[NA];SMARCAD1[NA];PKN2[NA];EDC3[NA];WASF2[NA];PIP4K2B[NA];ECD[NA];WDR83[NA];R3HCC1L[NA];MTMR6[NA];USP5[NA];MSH2[NA];PDCD4[NA];CEP350[NA];PDLIM5[NA];SRGAP2[NA];PPP6R3[NA];PPP6C[NA];STRN4[NA];INTS9[NA];DVL1[NA];CDC123[NA];HAUS8[NA];CEP55[NA];CEP89[NA];RNF219[NA];CC2D1A[NA];LUZP1[NA];CCDC14[NA];HAUS2[NA];TP53BP2[NA];YWHAG[NA];CCDC66[NA];CEP170[NA];CRK[NA];MB21D2[NA];ANKRD26[NA];CEP192[NA];UNC45A[NA];NCS1[NA];NMT1[NA];NME7[NA];FLII[NA];OFD1[NA];TCHP[NA];C3orf14[NA];XRN1[NA];WDR83[NA];SSX2IP[NA];DLG5[NA];MED4[NA];ATG2B[NA];HAUS5[NA];FGFR1OP[NA];KIF7[NA];GPATCH1[NA];PIBF1[NA];SIRT2[NA];HAUS3[NA];PLEKHG1[NA];ANXA1[NA];YWHAH[NA];CCDC77[NA];SAMD4B[NA];CCDC138[NA];KIAA0753[NA];HAUS4[NA];CEP131[NA];TXLNG[NA];WRAP73[NA];DHX35[NA];SRBD1[NA];CCDC85C[NA];MPHOSPH9[NA];CSPP1[NA];HAUS6[NA];HAUS7[NA];NONO[NA];LRRFIP2[NA];RPL10[NA];XRCC6[NA];DHX9[NA];HSPB1[NA];S100A6[NA];CBLB[NA];TIAF1[NA];HSPA8[NA];TUBA4A[NA];PPP1R12A[NA];HNRNPK[NA];HSPA1L[NA];RPS13[NA];ACTR3[NA];SPECC1[NA];MYH10[NA];RPS3[NA];TUBA1B[NA];RPL31[NA];HSPD1[NA];DDX6[NA];ARPC2[NA];CTTN[NA];VAV2[NA];TAOK2[NA];IQGAP1[NA];SLC25A3[NA];GSTM1[NA];PTPN11[NA];ARPC5[NA];PAWR[NA];ACTC1[NA];TUFM[NA];RPS18[NA];PABPC1[NA];PRMT5[NA];KRT17[NA];GSTM3[NA];RBBP7[NA];HNRNPA1[NA];FSCN1[NA];PRKDC[NA];ARPC1A[NA];RPS28[NA];BCLAF1[NA];MYO1A[NA];RPL27[NA];ARPC4[NA];TPM1[NA];PPP6R3[NA];CORO1C[NA];RPS25[NA];RPS14[NA];ATAD3A[NA];EPPK1[NA];PPP1R9B[NA];PPP1CB[NA];EEF1A1[NA];HNRNPA2B1[NA];ACTG1[NA];IPO7[NA];DYNLL1[NA];HSP90AB1[NA];DDX39B[NA];RPLP2[NA];CAPZB[NA];HNRNPH1[NA];LMO7[NA];UACA[NA];PPIA[NA];NEXN[NA];HNRNPF[NA];UGDH[NA];GRWD1[NA];RPS23[NA];KRT8[NA];RPS9[NA];HNRNPH2[NA];RACGAP1[NA];EIF4A1[NA];SMU1[NA];DAPK3[NA];PDCD6[NA];ACTN4[NA];RPS26[NA];AP2S1[NA];RPL18A[NA];ARPC3[NA];CBR1[NA];SPECC1L[NA];MATR3[NA];IMPDH2[NA];RPL3[NA];HADHB[NA];PRDX1[NA];SERPINH1[NA];PLEC[NA];ANXA6[NA];RPS15A[NA];DNAJA2[NA];GRB2[NA];MYO1C[NA];SRP9[NA];RCC2[NA];RPL18[NA];RPL35A[NA];RPS16[NA];PHGDH[NA];CFL1[NA];SVIL[NA];HIST1H2BH[NA];PDLIM7[NA];WDR1[NA];RPL21[NA];AP2A1[NA];FLNB[NA];AP2M1[NA];RPL27A[NA];LIMA1[NA];RPL36[NA];RPL4[NA];DLST[NA];PLS3[NA];RAI14[NA];GSN[NA];CORO1B[NA];MYO6[NA];HTRA1[NA];NCL[NA];ATP5F1A[NA];RPL12[NA];RPL7[NA];LUZP1[NA];LMNA[NA];MYL12A[NA];ITPR3[NA];DBN1[NA];SRSF10[NA];DDX5[NA];ACTG2[NA];ACTR2[NA];GMFB[NA];RUVBL2[NA];SAFB2[NA];RPS11[NA];PCMT1[NA];ANXA2[NA];TMOD3[NA];GSTP1[NA];SRP14[NA];RPS8[NA];SYNPO[NA];FLII[NA];RPL24[NA];TUBB3[NA];RPS3A[NA];RPL30[NA];ACTN1[NA];MPRIP[NA];HNRNPU[NA];HIST1H4A[NA];SPTAN1[NA];RPL26[NA];ILF3[NA];CFL2[NA];AP2B1[NA];RUVBL1[NA];SOS1[NA];SLC25A4[NA];EIF4A3[NA];RPS20[NA];MYO3B[NA];CAMK2D[NA];PPP3CA[NA];SHMT2[NA];CCM2L[NA];TUBB[NA];RPL23A[NA];SSBP1[NA];THRAP3[NA];MYL6[NA];LUC7L2[NA];MYH14[NA];CD59[NA];DLD[NA];MYO1B[NA];SNRPD2[NA];FLNA[NA];MYH9[NA];EEF1G[NA];KRT18[NA];RPS5[NA];EGFR[NA];SCIN[NA];TPM2[NA];RPL23[NA];HIST1H3A[NA];DUT[NA];EEF2[NA];HSPA5[NA];TUBB4B[NA];SMARCA5[NA];KRT7[NA];SHC1[NA];HIST2H2AA3[NA];VAV3[NA];PKM[NA];ABLIM3[NA];DST[NA];PTBP1[NA];SPTBN1[NA];TSC22D4[0.331];VIM[0.987];YWHAG[0.470];ACTG1[0.999];KCNJ12[0.019];ACTB[0.971];ABRA[0.998];YWHAE[0.880];YWHAB[0.985];ASB18[0.005];CCDC8[0.023];CASK[0.922];LUZP4[0.284];ABCE1[0.492];NMT1[0.983];SEPSECS[0.429];LIN7C[0.196];KIAA0753[0.988];SSX2IP[0.039];CEP128[0.997];CEP89[0.997];FBF1[0.983];NINL[0.993];ODF2[0.988];SCLT1[0.986];CEP19[0.996];STIL[0.977];CENPJ[0.997];XPO1[0.717];CAPZA2[0.997];CDK2[0.955];DBN1[0.999];FLNA[0.968];MYH9[0.998];MYO1C[0.980];PPP1CB[0.697];IQGAP1[0.904];PDLIM7[0.999];SYNPO[0.920];MAPRE1[0.988];LIMA1[0.996];ANLN[0.999];MYO19[0.993];MYO18A[0.999];CDH1[0.516];CYB5D2[0.006];KLHL40[0.004];BCO1[0.512];MED21[0.745];YWHAZ[0.634];CYLD[0.867],0.24692,0.638582646846771,Y,0.472039587,0.11524,,-0.24,36.28,0.000189813,0.203922594,64.08047708,0.951991965239091,0.048008025066062,9.6948464724981e-09,0.973181973995934,0.0268180147874949,1.12165709930715e-08,0.965462089660528,0.0345378846653601,2.56741117895744e-08,7.2284e-01,2.7716e-01,7.7515e-09,1.45180011680504,1.59515022984585,1.87614243251477,N,426.69086,4.31466,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,2.07E-01,0.0023961661341853,0.0,0.0023961661341853,0.0,0.038738019169329,0.0011980830670926,0.0263578274760383,0.0003993610223642173,N,N,N,N,0.798943039951219,E,Ablim1,normal phenotype; ,,,,,0.9995288542306248,Unknown,tools
3,ADAMTS20,0,,GRCh38,chr12,43551123,43551123,+,Missense_Mutation,SNP,T,T,C,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,T,T,,,,,,,,,,,,,,,,c.239A>G,p.Tyr80Cys,p.Y80C,ENST00000389420,2/39,34,18,15,50,50,0,"ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000553158,;ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000389420,;",C,ENSG00000173157,ENST00000389420,Transcript,missense_variant,239,239,80,Y/C,tAt/tGt,"COSM1476552,COSM1476551",,,-1,ADAMTS20,HGNC,17178,protein_coding,YES,CCDS31778.2,ENSP00000374071,ATS20_HUMAN,,UPI00004565F4,,deleterious(0),probably_damaging(1),2/39,,"hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01562",,,,,,,,,,,"1,1",,,,,,MODERATE,,SNV,,,"1,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,AGCGATAGTGG,,5,Y,C,rs1943508663,12,43944926,12,42231193,80;80;80,ADAMTS20;ADAMTS20;ADAMTS20,ENSG00000173157;ENSG00000173157;ENSG00000173157,ENST00000389420;ENST00000553158;ENST00000395541,ENSP00000374071;ENSP00000448341;ENSP00000378911,P59510-3;G3V1X8;E9PBD5,ATS20_HUMAN;G3V1X8_HUMAN;E9PBD5_HUMAN,c.239A>G;c.239A>G;c.239A>G,p.Y80C;p.Y80C;p.Y80C,c.239A>G;c.239A>G;c.239A>G,p.Tyr80Cys;p.Tyr80Cys;p.Tyr80Cys,c.239A>G;c.239A>G;c.239A>G,p.Tyr80Cys;p.Tyr80Cys;p.Tyr80Cys,principal1;.;.,Y;Y;Y,1;5;5,YES;.;.,-;-;-,TAT;TAT;TAT,2;2;2,0;0;0,T,T/T,T/T,T/T,T/T,0.0;0.0;.,0.91255,D;D;.,0.001;0.0;0.001,0.92824,D;D;D,.;.;.,,.;.;.,.;.;.,,.;.;.,0.004170,0.34034,N,0.000000,0.999996;0.999996,0.58761,D;D,simple_aae;simple_aae,Y80C;Y80C,3.41;.;.,0.91792,M;.;.,2.91;2.91;.,0.10008,T;T;.,-5.75;-5.73;.,0.87760,D;D;.,0.958;0.964;0.918,0.97426,-0.9447,0.41863,T,0.0979,0.36651,T,10,0.89503765;0.89503765;0.89503765,0.88855,D;D;D,0.049024,0.63632,D,0.534;0.534;.,0.80426,0.727;0.727;0.727;,0.86111,P59510;P59510;P59510;,Y80C;Y80C;Y80C;,Gain of catalytic residue at R77 (P = 0);Gain of catalytic residue at R77 (P = 0);Gain of catalytic residue at R77 (P = 0);,0.624827479815;0.624827479815;0.624827479815,0.62177,0.9152288995183525;.;.,0.91497,0.279405017774;.;.,0.30432,0.586790859699,0.51043,T,.;.;.,,.;.;.,0.247473,0.78363,D,0.117701,0.78082,D,0.998997509479523,0.95825,D,0.892711;0.892711;0.892711,0.62952,D;D;D,.;.;.,,.;.;.,,.;.;.,,.;.;.,,-4.786;.;.,0.60861,T;.;.,.;.;.,,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,0.9028;0.8712;0.8782,0.82939,P;P;P,.;.;.;,.;.;.;,.;.;.;,.;.;.;,.;.;.;,.;.;.;,3.928369,0.76201,26.5,4.036299,0.83545,28.0,0.99806416257923958,0.89085,0.91688,0.54053,D,AEFDBCI,0.754500,0.69436,D,0.68603587934368,0.78717,6.928229,0.576915250305,0.73288,5.946128,0.999999987318525,0.74766,0.443343,0.08805,1,0.563428,0.19063,0,0.666236,0.60216,0,0.530356,0.10902,0,,,3.81,3.81,0.43020,5.559000,0.67030,7.423000,0.58731,0.665000,0.62972,1.000000,0.71638,1.000000,0.68203,0.809000,0.38129,0.0:0.0:0.0:1.0,13.2915,0.59709,792,0.45996,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,0,6962,0,0,84,0,0,84,0,0,2210,0,0,146,0,0,610,0,0,24,0,0,94,0,0,466,0,0,2294,0,0,108,0,0,10680,0,,,,,,,,,,".;Peptidase M12B, propeptide;Peptidase M12B, propeptide",,,,ADAMTS20,ADAMTS20,ENSG00000173157,12,,GON-1,P59510,ATS20_HUMAN,80070,CCDS31778,NM_025003,uc010skx.3,611681,611681,ADAM metallopeptidase with thrombospondin type 1 motif 20,,,,Post-translational protein modification;Metabolism of proteins;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation,,,"FUNCTION: May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease- independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain.; ",,,,,,,Type 2 diabetes[25760438];Alzheimer's disease (late onset)[24162737];Parkinson's disease[27182965];Obesity-related traits[23251661];Adverse response to lamotrigine and phenytoin[22379998];Intraocular pressure[29235454];,,,proteolysis;positive regulation of signal transduction;extracellular matrix organization;negative regulation of apoptotic process;positive regulation of melanocyte differentiation,extracellular space;collagen-containing extracellular matrix,metalloendopeptidase activity;zinc ion binding,"Very sparingly expressed, although is detected at low levels in testis, prostate, ovary, heart, placenta, lung and pancreas. Overexpressed in several brain, colon and breast carcinomas.;",,,NEK4[25798074];MYC[21150319];,,,0.14489,0.379805952310562,N,0.384808746,0.09297,,-0.75,13.58,0.01884028,-0.836667577,12.00530089,4.85371907276584e-26,0.783183920088199,0.216816079911801,2.19494545885464e-23,0.872311454942541,0.127688545057459,3.59686536275913e-22,0.921445776107079,0.0785542238929206,2.6652e-35,1.3835e-02,9.8616e-01,0.822728281044849,0.874517657295695,0.978831228045902,N,1152.89729,6.46984,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,8.50E-01,0.0015974440894568,0.0,0.0015974440894568,0.0,0.0930511182108626,0.0063897763578274,0.0495207667731629,0.001996805111821,N,N,N,N,0.0458108729353191,N,Adamts20,"limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); pigmentation phenotype; embryo phenotype; cellular phenotype; craniofacial phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; ",,,,,0.9913316705936304,Unknown,tools
4,KMT2D,0,,GRCh38,chr12,49037620,49037621,+,Frame_Shift_Ins,INS,-,-,T,novel,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,-,-,,,,,,,,,,,,,,,,c.9735dupA,p.Pro3246ThrfsTer5,p.P3246Tfs*5,ENST00000301067,34/54,35,28,7,45,45,0,"KMT2D,frameshift_variant,p.Pro3246ThrfsTer5,ENST00000301067,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000549743,;",T,ENSG00000167548,ENST00000301067,Transcript,frameshift_variant,9735-9736,9735-9736,3245-3246,-/X,-/A,,,,-1,KMT2D,HGNC,7133,protein_coding,YES,CCDS44873.1,ENSP00000301067,KMT2D_HUMAN,"Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN",UPI0000EE84D6,,,,34/54,,"hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324",,,,,,,,,,,,,,,,,HIGH,,insertion,,,,,,,,,,,,,,PASS,NONE,INDELOCATOR*|VARSCANI*|PINDEL,CAGGGGTAACT,,3,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,KMT2D,KMT2D,ENSG00000167548,12,TNRC21;MLL2,ALR;MLL4;CAGL114,O14686,KMT2D_HUMAN,8085,CCDS44873,NM_003482,,602113,602113,lysine methyltransferase 2D,,,,"Cushing,s syndrome - Homo sapiens (human);Lysine degradation - Homo sapiens (human);Histone Modifications;Signaling by WNT;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;PKMTs methylate histone lysines;RNA Polymerase II Transcription;RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function;Chromatin modifying enzymes;Chromatin organization;Transcriptional regulation by RUNX1;Formation of the beta-catenin:TCF transactivating complex;TCF dependent signaling in response to WNT",,,"FUNCTION: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. {ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}.; ","DISEASE: Kabuki syndrome 1 (KABUK1) [MIM:147920]: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. {ECO:0000269|PubMed:20711175, ECO:0000269|PubMed:21280141, ECO:0000269|PubMed:21607748, ECO:0000269|PubMed:21658225, ECO:0000269|PubMed:21671394, ECO:0000269|PubMed:22126750, ECO:0000269|PubMed:23320472, ECO:0000269|PubMed:23913813, ECO:0000269|PubMed:24739679}. Note=The disease is caused by mutations affecting the gene represented in this entry.; ",147920;,[MIM:147920]Kabuki syndrome 1;,2322,Kabuki syndrome,Disease-causing germline mutation(s) in,Intelligence (MTAG)[29326435];General cognitive ability[29844566];,HP:0000691;HP:0001513;HP:0004322;HP:0000405;HP:0000589;HP:0000527;HP:0000411;HP:0000126;HP:0000252;HP:0002827;HP:0004736;HP:0000298;HP:0000047;HP:0000482;HP:0000592;HP:0000175;HP:0200055;HP:0005819;HP:0000508;HP:0000238;HP:0002650;HP:0005338;HP:0000687;HP:0001252;HP:0003316;HP:0001671;HP:0000384;HP:0001250;HP:0000074;HP:0000407;HP:0000776;HP:0000486;HP:0002119;HP:0001508;HP:0000081;HP:0009237;HP:0007655;HP:0002553;HP:0000826;HP:0002719;HP:0002000;HP:0001680;HP:0000639;HP:0011968;HP:0007477;HP:0008736;HP:0000400;HP:0100267;HP:0002937;HP:0002353;HP:0000668;HP:0008678;HP:0000218;HP:0002120;HP:0005692;HP:0000028;HP:0008872;HP:0002025;HP:0000535;HP:0007655;HP:0001252;HP:0000006;HP:0000437;HP:0001382;HP:0004322;HP:0000164;HP:0004467;HP:0000028;HP:0000358;HP:0000400;HP:0009237;HP:0002650;HP:0005218;HP:0001680;HP:0011231;HP:0000054;HP:0002024;HP:0001878;HP:0001290;HP:0001249;HP:0001631;HP:0002566;HP:0004736;HP:0001374;HP:0001629;HP:0001250;HP:0001212;HP:0010314;HP:0001007;HP:0000431;HP:0000637;HP:0002553;HP:0003468;HP:0000592;HP:0000175;HP:0000403;HP:0000074;HP:0001263;HP:0000851;HP:0002023;HP:0000252;HP:0000957;HP:0000508;HP:0001973;HP:0000218;HP:0000486;HP:0002100;HP:0000365;HP:0008897,Microdontia;Obesity;Short stature;Conductive hearing impairment;Coloboma;Long eyelashes;Protruding ear;Hydronephrosis;Microcephaly;Hip dislocation;Crossed fused renal ectopia;Mask-like facies;Hypospadias;Microcornea;Blue sclerae;Cleft palate;Small hand;Short middle phalanx of finger;Ptosis;Hydrocephalus;Scoliosis;Sparse lateral eyebrow;Widely spaced teeth;Muscular hypotonia;Butterfly vertebrae;Abnormal cardiac septum morphology;Preauricular skin tag;Seizure;Ureteropelvic junction obstruction;Sensorineural hearing impairment;Congenital diaphragmatic hernia;Strabismus;Ventriculomegaly;Failure to thrive;Duplicated collecting system;Short 5th finger;Eversion of lateral third of lower eyelids;Highly arched eyebrow;Precocious puberty;Recurrent infections;Short columella;Coarctation of aorta;Nystagmus;Feeding difficulties;Abnormal dermatoglyphics;Hypoplasia of penis;Macrotia;Lip pit;Hemivertebrae;EEG abnormality;Hypodontia;Renal hypoplasia/aplasia;High palate;Cerebral cortical atrophy;Joint hyperflexibility;Cryptorchidism;Feeding difficulties in infancy;Anal stenosis;Sparse and thin eyebrow;Eversion of lateral third of lower eyelids;Muscular hypotonia;Autosomal dominant inheritance;Depressed nasal tip;Joint hypermobility;Short stature;Abnormality of the dentition;Preauricular pit;Cryptorchidism;Posteriorly rotated ears;Macrotia;Short 5th finger;Scoliosis;Anoperineal fistula;Coarctation of aorta;Prominent eyelashes;Micropenis;Malabsorption;Hemolytic anemia;Generalized hypotonia;Intellectual disability;Atrial septal defect;Intestinal malrotation;Crossed fused renal ectopia;Congenital hip dislocation;Ventricular septal defect;Seizure;Prominent fingertip pads;Premature thelarche;Hirsutism;Wide nasal bridge;Long palpebral fissure;Highly arched eyebrow;Abnormal vertebral morphology;Blue sclerae;Cleft palate;Recurrent otitis media;Ureteropelvic junction obstruction;Global developmental delay;Congenital hypothyroidism;Anal atresia;Microcephaly;Cafe-au-lait spot;Ptosis;Autoimmune thrombocytopenia;High palate;Strabismus;Recurrent aspiration pneumonia;Hearing impairment;Postnatal growth retardation,"oocyte growth;chromatin silencing;regulation of transcription, DNA-templated;positive regulation of cell population proliferation;positive regulation of intracellular estrogen receptor signaling pathway;response to estrogen;regulation of megakaryocyte differentiation;positive regulation of transcription by RNA polymerase II;oogenesis;histone H3-K4 methylation;beta-catenin-TCF complex assembly",nucleus;nucleoplasm;histone methyltransferase complex;MLL3/4 complex,"DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;transcription coactivator activity;protein binding;histone-lysine N-methyltransferase activity;histone binding;histone methyltransferase activity (H3-K4 specific);transcription regulatory region DNA binding;metal ion binding","Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.;",,,SMAD1[15231748];PAXIP1[17178841;17500065;17925232];NCOA6[17178841;12482968];PPP1R21[26496610];SMAD9[15231748];DPY30[17178841];ASH2L[16603732;17178841;12482968;17925232;26886794];MKI67[26949251];ESR1[16603732];MANF[30021884];PAGR1[17178841;17500065];GOLGA2[29568061];AR[22722839];SNW1[20467437];SEPT7[30021884];RBBP5[16603732;17178841;17500065;17925232];WDR5B[16603732];WDR5[15960975;17178841;27705803;17500065];MATR3[17178841];TOPBP1[17913746];RBM45[26496610];KDM6A[17178841];,PAXIP1[17925232];MAX[22939629];CXXC1[18082152];FOXK2[25609649];ASH2L[17925232;16603732;24491801;26886794;27563068];NR3C1[28611094];EEF1B2[26344197];HERC2[25476789];POLR2A[16199523];RBBP5[15960974;17925232;16603732;24491801;24081332;27563068];CHEK2[28319113];WDR5[15960974;17925232;16603732;22665483;22266653;24491801;22689669;26186194;24788516;28514442;27563068;27705803];E2F2[16951254];AKT1[28336670];E2F3[16951254];E2F5[16951254];E2F6[16951254];MEF2D[18026121];KDM6A[17761849;24491801];MEN1[14992727];SMAD1[15231748];KDM4B[21502505];PPP1R21[26496610];EYA2[27880917];SMAD9[15231748];ESR1[16603732;21502505;28336670];SENP3[24930734];SRRM1[16159877];UBAC2[22119785];PYGO2[20937768];AR[28611094;22722839];WDR82[20516061];CTNNB1[16510874;16510875];RBM45[26496610];HIST2H3C[22266653];,RBBP5[NA];NCOA6[NA];ASH2L[NA];WDR5[NA];KMT2C[NA];NCOA6[NA];PAXIP1[NA];ASH2L[NA];PAGR1[NA];RBBP5[NA];AR[0.999];TAF6[NA];FEN1[NA];TOX4[NA];ERC1[NA];C12orf4[NA];NDUFAF1[NA];CRYZL1[NA];CEP162[NA];MYBPH[NA];MRPL18[NA];PPP1R21[NA];GATD1[NA];TBCK[NA];MATR3[NA];WDR5[NA];NCOA6[NA];PAXIP1[NA];PAGR1[NA];ASH2L[NA];RBBP5[NA];KDM6A[NA];DPY30[NA];KIAA2013[NA];RPUSD4[NA];PUM2[NA];CTNNBL1[NA];AFG3L2[NA];RBM45[NA];DOT1L[NA];FNDC3A[NA];KIF22[NA];ECT2[NA];PPM1G[NA];ASH2L[0.999];KANSL3[NA];CCT5[NA];YEATS2[NA];KAT14[NA];PHF20[NA];SGF29[NA];ATN1[NA];RNF2[NA];RING1[NA];PAGR1[NA];KAT8[NA];ARHGEF2[NA];MAX[NA];RPL37A[NA];WDR82[NA];SESN2[NA];KANSL2[NA];TADA2A[NA];PDPK1[NA];HELB[NA];CCT3[NA];CCT8[NA];SETD1B[NA];TCP1[NA];RPL35A[NA];DPY30[NA];RICTOR[NA];CBX3[NA];MGA[NA];KMT2B[NA];KDM6A[NA];HDAC1[NA];CSNK2A1[NA];E2F6[NA];MAPKAP1[NA];CCT6A[NA];KANSL1[NA];CXXC1[NA];CCT4[NA];CCT2[NA];PCGF6[NA];OGT[NA];MCRS1[NA];HDAC2[NA];CCT7[NA];RBBP5[NA];MSL1[NA];ASH2L[NA];MRPL11[NA];YAF2[NA];SETD1A[NA];FAM199X[NA];PAXIP1[NA];BOD1L1[NA];HCFC1[NA];TADA3[NA];NCOA6[NA];MEN1[NA];KMT2C[NA];CEP72[NA];L3MBTL2[NA];WDR5[NA];SPECC1[NA];MBIP[NA];HCFC2[NA];HACD3[NA];PPP1R3F[NA];RERE[NA];TFDP1[NA];KMT2A[NA];ZXDC[NA];KDM6A[NA];RBBP5[NA];WDR5[NA];NCOA6[NA];PAXIP1[NA];ASH2L[NA];ESR1[0.999];UBN2[NA];GOLGA2[NA];LRRC49[NA];HAGH[NA];MYO1D[NA];TRIP11[NA];TLE1[NA];SEC23IP[NA];ZFP30[NA];HYOU1[NA];STRN4[NA];TPGS1[NA];ECH1[NA];PAXIP1[NA];UBR4[NA];ZNF658[NA];MYH10[NA];GORASP2[NA];USO1[NA];KDM2B[NA];STRN3[NA];NCOR2[NA];DDX54[NA];STRN[NA];STRIP1[NA];MYL12A[NA];KDM6A[NA];SMC3[NA];SLC25A1[NA];MYO1C[NA];GRPEL1[NA];NCOR1[NA];COG1[NA];SEC16A[NA];GOLGA5[NA];DDX52[NA];ARID4B[NA];RBM28[NA];GOLGA3[NA];MYH14[NA];MYO1B[NA];MOB4[NA];SINHCAF[NA];ARID3A[NA];SMAD9[0.997];AR[NA];FOXA1[NA];ERG[NA];KDM6A[NA];ASH2L[NA];ASXL1[NA];KMT2A[NA];RBBP5[NA];PAXIP1[NA];WDR5[NA];ASH2L[NA];WDR5B[NA];RBBP5[NA];ESR1[NA];ASH2L[NA];WDR5B[NA];RBBP5[NA];WDR5[NA];KMT2C[NA];NCOA6[NA];PAXIP1[NA];ASH2L[NA];KDM6A[NA];DPY30[NA];PAGR1[NA];RBBP5[NA];RBBP5[NA];KAT8[NA];RNF2[NA];WDR5[NA];RUVBL1[NA];MEN1[NA];HCFC1[NA];KMT2A[NA];SETD1A[NA];ASH2L[NA];RBBP5[NA];ASH2L[NA];KMT2C[NA];NCOA6[NA];KMT2C[NA];WDR5[NA];ASH2L[NA];RBBP5[NA];SMAD1[0.998];ASH2L[NA];PAXIP1[NA];RBBP5[NA];ASH2L[NA];RBBP5[NA];ASH2L[NA];NCOA6[NA];ASH2L[NA];WDR5[NA];RBBP5[NA];WDR5[NA];ASH2L[NA];ESR1[NA];RBBP5[NA];MEN1[0.999];ASH2L[NA];TUBA4A[NA];NCOA6[NA];KMT2C[NA];RBBP5[NA];TUBB[NA];RBBP5[NA];PAXIP1[NA];PITX2[NA];ASH2L[NA];RBBP5[NA];KDM6A[NA];ZNF281[NA];PAXIP1[NA];ASH2L[NA];PROSER1[NA];PPP6R3[NA];N4BP2[NA];WDR5[NA];NCOA6[NA];KMT2C[NA];RBBP5[NA];DPY30[NA];ASH2L[NA];OGT[NA];HCFC2[NA];MEN1[NA];HCFC1[NA];WDR5[NA];PSIP1[NA];PAGR1[NA];KDM6A[NA];DPY30[NA];RBBP5[NA];PAXIP1[NA];ASH2L[NA];WDR5[NA];NCOA6[NA];TAF6[NA];RNF2[NA];KAT8[NA];RBBP5[NA];TAF1[NA];KMT2A[NA];WDR5[NA];SETD1A[NA];TAF9[NA];CXXC1[0.977];KDM6A[0.998];CTNNB1[0.998];E2F5[0.996];E2F6[0.974];E2F3[0.996];E2F2[0.970];POLR2A[0.997];SRRM1[0.972];WDR5[0.999];RBBP5[0.999];MEF2D[0.972];PAXIP1[0.976];WDR82[0.988];PYGO2[0.998];KDM4B[0.997];HIST2H3A[0.997];MAX[0.976];SENP3[0.972];UBAC2[0.004];EEF1B2[0.093];HERC2[0.974];PPP1R21[0.005];RBM45[0.969];FOXK2[0.975];EYA2[0.972];NR3C1[0.998];AKT1[0.998];POLR2B[NA];ASH2L[NA];WDR5[NA];MEN1[NA];DPY30[NA];RBBP5[NA];TUBB[NA];RBBP5[NA];ASH2L[NA];KMT2C[NA];TUBA1A[NA];NCOA6[NA];WDR5[NA];ASH2L[NA];PAXIP1[NA];NCOA6[NA];TUBA1A[NA];WDR5[NA];MATR3[NA];TUBB[NA];PAGR1[NA];DPY30[NA];KDM6A[NA];RBBP5[NA];DPY30[NA];WDR82[NA];ASH2L[NA];HCFC2[NA];KMT2A[NA];MEN1[NA];HCFC1[NA];WDR5[NA];WDR5B[0.004],0.69282,0.636561334133148,Y,0.60810537,0.10507,,-5.29,0.06,2.48066E-31,-5.184334326,0.078308536,0.999999999999995,5.39357356800153e-15,8.78426426981725e-44,0.999999999999937,6.3375584095551e-14,1.75061073650905e-40,0.999999999999097,9.02541908973645e-13,2.79361647003418e-38,8.3096e-01,1.6585e-01,3.1947e-03,0.934218217205293,1.42258462539321,1.3380158829858,Y,1281.52205,6.74114,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,,0.001996805111821,0.0,0.001996805111821,0.0,0.1649361022364217,0.014776357827476,0.1018370607028754,0.0075878594249201,,E,,N,,,Kmt2d,"behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; embryo phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; ",kmt2d,chondrocyte,position,abnormal,,Unknown,no info
5,SPTB,0,,GRCh38,chr14,64799775,64799775,+,Missense_Mutation,SNP,T,T,C,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,T,T,,,,,,,,,,,,,,,,c.1036A>G,p.Thr346Ala,p.T346A,ENST00000389722,8/35,22,13,9,21,21,0,"SPTB,missense_variant,p.Thr346Ala,ENST00000389721,;SPTB,missense_variant,p.Thr346Ala,ENST00000556626,;SPTB,missense_variant,p.Thr346Ala,ENST00000389722,;SPTB,missense_variant,p.Thr346Ala,ENST00000542895,;SPTB,missense_variant,p.Thr346Ala,ENST00000389720,;",C,ENSG00000070182,ENST00000389722,Transcript,missense_variant,1090,1036,346,T/A,Acc/Gcc,"COSM1477699,COSM1477700",,,-1,SPTB,HGNC,11274,protein_coding,YES,CCDS32099.1,ENSP00000374372,SPTB1_HUMAN,"Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN",UPI000053030D,,tolerated(0.28),benign(0.173),8/35,,"hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF46966",,,,,,,,,,,"1,1",,,,,,MODERATE,,SNV,,,"1,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GTAGGTGCTGA,,5,T,A,,14,65266493,14,64336246,346;346;346;346;346,SPTB;SPTB;SPTB;SPTB;SPTB,ENSG00000070182;ENSG00000070182;ENSG00000070182;ENSG00000070182;ENSG00000070182,ENST00000556626;ENST00000644917;ENST00000389722;ENST00000389721;ENST00000389720,ENSP00000451752;ENSP00000495909;ENSP00000374372;ENSP00000374371;ENSP00000374370,P11277-2;P11277-2;P11277-2;P11277;P11277,SPTB1_HUMAN;SPTB1_HUMAN;SPTB1_HUMAN;SPTB1_HUMAN;SPTB1_HUMAN,c.1036A>G;.;c.1036A>G;c.1036A>G;c.1036A>G,p.T346A;.;p.T346A;p.T346A;p.T346A,c.1036A>G;.;c.1036A>G;c.1036A>G;c.1036A>G,p.Thr346Ala;.;p.Thr346Ala;p.Thr346Ala;p.Thr346Ala,c.1036A>G;c.1036A>G;c.1036A>G;c.1036A>G;c.1036A>G,p.Thr346Ala;p.Thr346Ala;p.Thr346Ala;p.Thr346Ala;p.Thr346Ala,principal4;principal4;principal4;alternative2;alternative2,Y;Y;Y;Y;Y,1;.;2;1;5,.;YES;.;.;.,-;-;-;-;-,ACC;ACC;ACC;ACC;ACC,1;1;1;1;1,0;0;0;0;0,T,T/T,T/T,T/T,T/T,0.31;.;0.31;0.314;0.324,0.14017,T;.;T;T;T,0.336;.;0.336;0.347;0.339,0.18232,T;.;T;T;T,.;.;.;0.087;0.087,0.24971,.;.;.;B;B,.;.;.;0.119;0.119,0.32162,.;.;.;B;B,0.000007,0.62929,D,0.108661,0.99627;0.99627;0.99627;0.99627;0.99627,0.43112,D;D;D;D;D,simple_aae;simple_aae;simple_aae;simple_aae;simple_aae,T346A;T346A;T346A;T346A;T346A,0.875;0.875;0.875;0.875;0.875,0.21512,L;L;L;L;L,0.84;.;0.84;0.84;0.84,0.47477,T;.;T;T;T,-2.7;.;-2.7;-2.7;-2.6,0.57599,D;.;D;D;D,0.343;.;0.353;0.347;0.326,0.39457,-1.0328,0.19554,T,0.1015,0.37568,T,10,0.20257935;0.20257935;0.20257935;0.20257935;0.20257935,0.36382,T;T;T;T;T,0.012675,0.31446,T,0.137;.;0.137;0.137;0.137,0.36984,0.256;0.256;0.256;0.256;0.256;,0.19689,P11277;P11277;P11277;P11277;P11277;,T346A;T346A;T346A;T346A;T346A;,Loss of phosphorylation at T346 (P = 0.0923);Loss of phosphorylation at T346 (P = 0.0923);Loss of phosphorylation at T346 (P = 0.0923);Loss of phosphorylation at T346 (P = 0.0923);Loss of phosphorylation at T346 (P = 0.0923);,0.480832681621;.;0.480832681621;0.480832681621;0.480832681621,0.47714,.;0.2989077531557496;.;.;.,0.29803,.;.;0.257780808339;.;.,0.28339,0.603891253471,0.53453,T,.;.;.;0.486182;0.486182,0.81278,.;.;.;T;T,-0.0845586,0.38970,T,-0.359239,0.38141,T,0.72400438785553,0.41902,D,.;.;0.831217;.;0.831217,0.49813,.;.;T;.;T,.;.;.;0.21724857;0.21724857,0.44204,.;.;.;0.22800322;0.22800322,0.47828,.;.;.;0.21724857;0.21724857,0.44204,.;.;.;0.22800322;0.22800322,0.47827,-4.437;-4.437;-4.437;-1.155;-1.155,0.54518,T;T;T;T;T,.;.;.;.;0.17396910930027676,0.22068,.;.;.;.;U,.;.;.;.;U,.;.;.;.;U,.;.;.;.;U,.;.;.;.;B,.;.;.;.;B,.;.;.;.;B,.;.;.;.;B,.;.;.;.;B,.;.;.;.;B,.;.;.;.;B,.;.;0.0776;.;0.0761,0.06663,.;.;B;.;B,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,2.349424,0.37936,21.8,1.977008,0.32479,19.55,0.97885640174854793,0.36635,0.81702,0.41053,D,AEFDGBCI,0.466396,0.51406,N,-0.14951352435561,0.35255,2.022694,0.00733992040371191,0.40055,2.38443,0.999352416054405,0.39259,0.554377,0.28877,0,0.59043,0.45803,0,0.602189,0.34648,0,0.542086,0.14980,0,,,5.31,4.09,0.47038,2.646000,0.46296,6.096000,0.53498,0.665000,0.62972,1.000000,0.71638,1.000000,0.68203,0.992000,0.67800,0.1481:0.0:0.0:0.8519,10.2642,0.42624,470,0.78111,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,.;.;.;.;.,,,,SPTB,SPTB,ENSG00000070182,14,,,P11277,SPTB1_HUMAN,6710,CCDS32099;CCDS32100,NM_001024858,uc001xhs.3,182870,182870,"spectrin beta, erythrocytic",,,,Developmental Biology;Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;Interaction between L1 and Ankyrins;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;NCAM signaling for neurite out-growth;L1CAM interactions;COPI-mediated anterograde transport;Axon guidance;ER to Golgi Anterograde Transport,,,FUNCTION: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.; ,"DISEASE: Elliptocytosis 3 (EL3) [MIM:617948]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:1975598, ECO:0000269|PubMed:7883966, ECO:0000269|PubMed:8018926, ECO:0000269|PubMed:8226774}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Spherocytosis 2 (SPH2) [MIM:616649]: An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. {ECO:0000269|PubMed:19538529, ECO:0000269|PubMed:8102379}. Note=The disease is caused by mutations affecting the gene represented in this entry.; ",616649;617948;,[MIM:617948]Elliptocytosis 3 [dominant?] [recessive?];[MIM:616649]Spherocytosis 2 [dominant?];,822;288,Hereditary spherocytosis;Hereditary elliptocytosis,Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in,Mean corpuscular hemoglobin concentration[27863252];High light scatter reticulocyte percentage of red cells[27863252];Reticulocyte fraction of red cells[27863252];Reticulocyte count[27863252];High light scatter reticulocyte count[27863252];Obesity-related traits[23251661;23251661];Daytime sleep phenotypes[27126917];Red cell distribution width[27863252;27863252];Pediatric areal bone mineral density (radius)[28181694];,HP:0002904;HP:0000952;HP:0005502;HP:0000006;HP:0001923;HP:0004444;HP:0001744;HP:0001927;HP:0001878;HP:0001945;HP:0001081;HP:0008897;HP:0001789;HP:0002027;HP:0001923;HP:0002007;HP:0004446;HP:0001744;HP:0006579;HP:0003265;HP:0025143;HP:0004804;HP:0004445;HP:0005502;HP:0001723;HP:0000980;HP:0002027;HP:0001945;HP:0100724;HP:0001510;HP:0001923;HP:0001978;HP:0004444;HP:0025143;HP:0000952;HP:0002240;HP:0003270;HP:0001251;HP:0003326;HP:0001997;HP:0001744;HP:0011900;HP:0001324;HP:0040186;HP:0001081;HP:0005525;HP:0005502;HP:0025548;HP:0200042;HP:0002904,Hyperbilirubinemia;Jaundice;Increased red cell osmotic fragility;Autosomal dominant inheritance;Reticulocytosis;Spherocytosis;Splenomegaly;Acanthocytosis;Hemolytic anemia;Fever;Cholelithiasis;Postnatal growth retardation;Hydrops fetalis;Abdominal pain;Reticulocytosis;Frontal bossing;Stomatocytosis;Splenomegaly;Prolonged neonatal jaundice;Neonatal hyperbilirubinemia;Chills;Congenital hemolytic anemia;Elliptocytosis;Increased red cell osmotic fragility;Restrictive cardiomyopathy;Pallor;Abdominal pain;Fever;Hypercoagulability;Growth delay;Reticulocytosis;Extramedullary hematopoiesis;Spherocytosis;Chills;Jaundice;Hepatomegaly;Abdominal distention;Ataxia;Myalgia;Gout;Splenomegaly;Hypofibrinogenemia;Muscle weakness;Maculopapular exanthema;Cholelithiasis;Spontaneous hemolytic crises;Increased red cell osmotic fragility;Increased mean corpuscular hemoglobin concentration;Skin ulcer;Hyperbilirubinemia,MAPK cascade;endoplasmic reticulum to Golgi vesicle-mediated transport;cytoskeleton organization;axon guidance;actin filament capping,Golgi apparatus;cytosol;spectrin;spectrin-associated cytoskeleton;actin cytoskeleton;intrinsic component of the cytoplasmic side of the plasma membrane;protein-containing complex,actin binding;Ras guanyl-nucleotide exchange factor activity;structural constituent of cytoskeleton;protein binding;ankyrin binding;actin filament binding,,tongue;skin;lens;unclassifiable (Anatomical System);cerebellum;choroid;uterus;retina;muscle;head and neck;skeletal muscle;islets of Langerhans;fovea centralis;spleen;liver;peripheral nerve;bone;brain;heart;lung;thyroid;macula lutea;frontal lobe;colon;prostate;optic nerve;,pons;caudate nucleus;subthalamic nucleus;superior cervical ganglion;trigeminal ganglion;atrioventricular node;skeletal muscle;globus pallidus;cerebellum peduncles;cerebellum;,SPTA1[12820899;20197550];RPL30[30021884];SNAPIN[23414517];STAT1[25814554];SH2D2A[25814554];HUWE1[30021884];TULP3[23414517];SLC4A1[23219802];SPTAN1[12820899];ENO3[23414517];,CRP[28514442];EPB41[7673158];STAT1[25814554];SH2D2A[25814554];MRPL38[28514442];ZBTB12[28514442];NMNAT3[28514442];LSM5[22939629];ANK1[2141335];RHOD[26186194;28514442];ADD1[8663089];CPLX4[28514442];GLB1L2[28514442];SPTA1[1634521];HNRNPL[28611215];RASA3[22939629];YWHAQ[15161933];GAN[26460568];NCAM1[23061666];SPTAN1[9890967;17607528];RAB40AL[26186194;28514442];TXNDC5[26186194;28514442];,ENO3[0.878];STAT1[0.982];SPTA1[1];SNAPIN[0.988];SH2D2A[0.551];TULP3[0.901];SPTAN1[1];SPTA1[NA];EPB41[NA];SPTA1[NA];EPB41L3[NA];EPB41L2[NA];ACTB[NA];SPTA1[NA];EPB41[NA];ACTB[NA];SPTA1[NA];SPTA1[NA];EPB41L2[NA];SPTA1[NA];ACTB[NA];EPB41L3[NA];EPB41[0.999];AP1G1[0.992];CSRP3[0.931];DMTN[0.999];MAPT[0.996];ADD1[0.999];NCAM1[0.998];SPTAN1[NA];ANK2[NA];SLC8A1[NA];ANK1[0.999];LSM5[0.891];RASA3[0.999];YWHAQ[0.996];RHOD[0.976];RAB40AL[0.765];TXNDC5[0.906];GAN[0.993];GLB1L2[0.004];CPLX4[0.012];CRP[0.056];ZBTB12[0.077];MRPL38[0.995];NMNAT3[0.688],0.31324,0.792615056037903,Y,0.557488936,0.33019,,-2.64,0.78,1.54726E-14,-0.025897144,48.49707849,0.999999747900015,2.52099984509224e-07,2.52004219585292e-22,0.999999579098788,4.20901211921723e-07,4.33189712583395e-21,0.999996221018651,3.77898134903134e-06,2.24717598998463e-19,1.0000e+00,5.8106e-12,4.7423e-35,0.248554591259634,-0.382179327867663,-0.131629241827207,N,7634.17972,18.78025,High,High,High,High,High,High,High,High,High,High,1.44E-01,0.001996805111821,0.0,0.001996805111821,0.0,0.1345846645367412,0.0099840255591054,0.0818690095846645,0.0043929712460063,E,N,N,N,0.852864495617268,E,Sptb,"reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype; renal/urinary system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; ",sptb,nucleate erythrocyte,teardrop-shaped,abnormal,0.07059296653499202,Unknown,tools
6,PIEZO1,0,,GRCh38,chr16,88723884,88723884,+,Missense_Mutation,SNP,T,T,C,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,T,T,,,,,,,,,,,,,,,,c.4322A>G,p.Gln1441Arg,p.Q1441R,ENST00000301015,31/51,27,19,7,35,35,0,"PIEZO1,missense_variant,p.Gln115Arg,ENST00000474606,;PIEZO1,missense_variant,p.Gln1441Arg,ENST00000301015,;PIEZO1,upstream_gene_variant,,ENST00000327397,;PIEZO1,upstream_gene_variant,,ENST00000466823,;RP5-1142A6.9,downstream_gene_variant,,ENST00000564984,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000566414,;PIEZO1,upstream_gene_variant,,ENST00000419505,;PIEZO1,downstream_gene_variant,,ENST00000491917,;PIEZO1,upstream_gene_variant,,ENST00000495568,;PIEZO1,downstream_gene_variant,,ENST00000475586,;PIEZO1,upstream_gene_variant,,ENST00000497793,;",C,ENSG00000103335,ENST00000301015,Transcript,missense_variant,4569,4322,1441,Q/R,cAg/cGg,COSM1479166,,,-1,PIEZO1,HGNC,28993,protein_coding,YES,CCDS54058.1,ENSP00000301015,PIEZ1_HUMAN,,UPI0001B300F3,,tolerated(0.25),possibly_damaging(0.78),31/51,,"hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40",,,,,,,,,,,1,,,,,,MODERATE,,SNV,,,1,,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,CACTCTGTGCC,,5,Q,R,,16,88790292,16,87317793,1441,PIEZO1,ENSG00000103335,ENST00000301015,ENSP00000301015,Q92508,PIEZ1_HUMAN,c.4322A>G,p.Q1441R,c.4322A>G,p.Gln1441Arg,c.4322A>G,p.Gln1441Arg,principal1,Y,1,YES,-,CAG,2,0,T,T/T,T/T,T/T,T/T,0.653,0.04802,T,0.539,0.09795,T,0.983,0.60381,D,0.78,0.57283,P,0.000016,0.62929,D,0.068185,0.990937,0.41269,D,simple_aae,Q1441R,1.79,0.46772,L,-0.64,0.72125,T,-1.87,0.43717,N,0.486,0.52029,-0.8245,0.53651,T,0.2058,0.56417,T,10,0.49328062,0.61118,T,0.349746,0.92236,D,0.201,0.48592,0.196;,0.10839,Q92508;,Q1441R;,Gain of MoRF binding (P = 0.0225);,0.110392049598,0.10638,0.3385948554224536,0.33772,,,0.62809252739,0.56874,T,0.077023,0.35556,T,-0.0502235,0.44413,T,-0.309919,0.43667,T,0.838578939437866,0.49211,D,0.653235,0.26349,T,0.18553552,0.39920,0.16926739,0.38947,0.18553552,0.39920,0.16926739,0.38946,-2.308,0.10800,T,0.3042909460519521,0.40186,U,U,U,U,U,U,U,B,B,B,B,0.0825,0.08997,B,.;,.;,.;,.;,.;,.;,2.451447,0.40171,22.3,2.733757,0.48847,23.0,0.99074967478672848,0.51810,0.88347,0.48233,D,AEFBCI,0.508120,0.53814,D,0.0514226962268174,0.44208,2.699064,0.0964520741627189,0.44371,2.720055,0.994836545080973,0.33823,0.67177,0.52595,0,0.702456,0.74545,0,0.723109,0.80598,0,0.711,0.71501,0,,,5.21,5.21,0.72005,2.382000,0.43999,4.923000,0.46060,0.665000,0.62972,1.000000,0.71638,1.000000,0.68203,0.030000,0.13115,0.0:0.0:0.0:1.0,14.3438,0.66206,873,0.30802,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,Piezo domain,,,,PIEZO1,PIEZO1,ENSG00000103335,16,FAM38A,KIAA0233,Q92508,PIEZ1_HUMAN,9780,CCDS54058,NM_014745;NM_001142864,uc010vpb.3,611184,611184,piezo type mechanosensitive ion channel component 1,,,,,,,"FUNCTION: Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity). {ECO:0000250|UniProtKB:E2JF22, ECO:0000269|PubMed:20016066, ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:23695678, ECO:0000269|PubMed:25119035}.; ","DISEASE: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. {ECO:0000269|PubMed:22529292, ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:23487776, ECO:0000269|PubMed:23581886, ECO:0000269|PubMed:23695678, ECO:0000269|PubMed:23973043}. Note=The disease is caused by mutations affecting the gene represented in this entry. All disease-causing mutations characterized so far produce a gain-of- function phenotype, mutated channels exhibiting increased cation transport in erythroid cells, that could be due to slower channel inactivation rate compared to the wild-type protein.; DISEASE: Lymphedema, hereditary, 3 (LMPH3) [MIM:616843]: A severe form of lymphedema, a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. LMPH3 manifests as generalized lymphatic dysplasia, characterized by uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non-immune hydrops fetalis. {ECO:0000269|PubMed:26333996}. Note=The disease is caused by mutations affecting the gene represented in this entry.; ",194380;616843;,"[MIM:194380]Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema [dominant?];[MIM:616843]Lymphedema, hereditary, 3;",3202,Dehydrated hereditary stomatocytosis,Disease-causing germline mutation(s) (gain of function) in,Mean corpuscular hemoglobin concentration[27863252;27863252;27863252;28453575;29403010];Joint mobility (Beighton score)[27182965];High light scatter reticulocyte percentage of red cells[27863252];Mean corpuscular volume[27863252;27863252;29403010];Reticulocyte count[27863252;27863252];High light scatter reticulocyte count[27863252;27863252];Red blood cell count[27863252];Hemoglobin A1c levels[29403010];Hemoglobin concentration[27863252];Diverticular disease[30177863];Reticulocyte fraction of red cells[27863252];Red blood cell traits[23222517];Hair color[26926045];Platelet count[27863252];,HP:0030950;HP:0003265;HP:0025548;HP:0000969;HP:0001981;HP:0001930;HP:0030242;HP:0012431;HP:0001923;HP:0001972;HP:0001901;HP:0025435;HP:0005502;HP:0002027;HP:0004804;HP:0001907;HP:0001046;HP:0003281;HP:0001081;HP:0005518;HP:0001744;HP:0003573;HP:0011042;HP:0020063;HP:0004392;HP:0000821;HP:0004322;HP:0002619;HP:0010310;HP:0002650;HP:0100539;HP:0100658;HP:0000007;HP:0000365;HP:0007430;HP:0000286;HP:0002020;HP:0000465;HP:0000282;HP:0001790;HP:0001541;HP:0001263;HP:0000378;HP:0001631;HP:0000347;HP:0000767;HP:0000034;HP:0001744;HP:0031188;HP:0001561;HP:0002625;HP:0001004;HP:0002593;HP:0000006;HP:0025548;HP:0005535;HP:0003281;HP:0032106;HP:0002240;HP:0001081;HP:0003641;HP:0000952;HP:0001923;HP:0008269;HP:0001744;HP:0000980;HP:0012115,Pulmonary venous hypertension;Neonatal hyperbilirubinemia;Increased mean corpuscular hemoglobin concentration;Edema;Schistocytosis;Nonspherocytic hemolytic anemia;Portal vein thrombosis;Episodic fatigue;Reticulocytosis;Macrocytic anemia;Polycythemia;Increased lactate dehydrogenase level;Increased red cell osmotic fragility;Abdominal pain;Congenital hemolytic anemia;Thromboembolism;Intermittent jaundice;Increased serum ferritin;Cholelithiasis;Increased mean corpuscular volume;Splenomegaly;Increased total bilirubin;Abnormal blood potassium concentration;Increased hemoglobin concentration;Prune belly;Hypothyroidism;Short stature;Varicose veins;Chylothorax;Scoliosis;Periorbital edema;Cellulitis;Autosomal recessive inheritance;Hearing impairment;Generalized edema;Epicanthus;Gastroesophageal reflux;Webbed neck;Facial edema;Nonimmune hydrops fetalis;Ascites;Global developmental delay;Cupped ear;Atrial septal defect;Micrognathia;Pectus excavatum;Hydrocele testis;Splenomegaly;Genital edema;Polyhydramnios;Deep venous thrombosis;Lymphedema;Intestinal lymphangiectasia;Autosomal dominant inheritance;Increased mean corpuscular hemoglobin concentration;Exercise-induced hemolysis;Increased serum ferritin;Conjunctival icterus;Hepatomegaly;Cholelithiasis;Hemoglobinuria;Jaundice;Reticulocytosis;Increased red cell hemolysis by shear stress;Splenomegaly;Pallor;Hepatitis,cation transport;positive regulation of integrin activation;positive regulation of cell-cell adhesion mediated by integrin;regulation of membrane potential;detection of mechanical stimulus;cellular response to mechanical stimulus;cation transmembrane transport,endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;integral component of membrane;lamellipodium membrane;endoplasmic reticulum-Golgi intermediate compartment membrane,cation channel activity;mechanosensitive ion channel activity,"Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes. Expressed in erythrocytes (at protein level). {ECO:0000269|PubMed:16854388, ECO:0000269|PubMed:22529292, ECO:0000269|PubMed:23479567}.;",cornea;stomach;testis;choroid;kidney;uterus;whole body;pancreas;hypopharynx;urinary;skeletal muscle;islets of Langerhans;visual apparatus;fovea centralis;spleen;liver;germinal center;heart;lung;thyroid;placenta;optic nerve;thymus;epididymis;tongue;alveolus;smooth muscle;skin;pituitary gland;lens;unclassifiable (Anatomical System);cerebrum;retina;head and neck;mammary gland;cervix;cartilage;endometrium;bone;parathyroid;brain;blood;ovary;macula lutea;lymph node;bladder;frontal lobe;colon;aorta;prostate;breast;,white blood cells;tumor;prostate;,GJB2[26496610];RAB5C[26496610];VAPA[26496610];GOLT1B[26496610];RAB7A[26496610];,GJB2[26496610];RAB5C[26496610];VAPA[26496610];GOLT1B[26496610];YIPF3[28514442];CYP20A1[28514442];SORD[22939629];DSTN[22939629];TSPAN5[26186194;28514442];TRIM25[29117863];FBXO7[27503909];RAB7A[26496610];,ERLIN2[NA];ATP2B1[NA];CAVIN1[NA];IMMT[NA];CHMP2A[NA];PC[NA];ATP2A2[NA];NDUFS1[NA];GPRC5A[NA];JUP[NA];NDUFB8[NA];RAB7A[NA];NDUFA8[NA];ABCD1[NA];RHOG[NA];NDUFV2[NA];CAV1[NA];CFL1[NA];ABCG2[NA];NDUFB7[NA];VDAC1[NA];CHCHD6[NA];RPN2[NA];CCDC115[NA];KTN1[NA];ATP6V0D1[NA];MCU[NA];CAVIN3[NA];MUC13[NA];NDUFB4[NA];PHB[NA];CHCHD3[NA];CYBRD1[NA];ATP6V1G1[NA];TMEM43[NA];FLOT1[NA];IST1[NA];VDAC2[NA];CHMP2B[NA];SOAT1[NA];ABCD3[NA];XPR1[NA];LRPPRC[NA];FLOT2[NA];NDUFA7[NA];ATP6V1B2[NA];C6orf120[NA];GNB2[NA];MBOAT7[NA];PHB2[NA];TFRC[NA];CHMP1A[NA];ATP6V0A1[NA];CHMP4B[NA];CPM[NA];ERLIN1[NA];NDUFS6[NA];STT3B[NA];KIDINS220[NA];RILP[NA];CKAP4[NA];CPT1A[NA];UQCRQ[NA];YIPF5[NA];ATP6AP1[NA];MLEC[NA];AP2M1[NA];MYOF[NA];STOML2[NA];ORC3[NA];GOSR2[NA];PTAR1[NA];ABCD3[NA];XPR1[NA];GBE1[NA];NDUFS4[NA];ATP6V1B2[NA];ATP6V0D1[NA];MCU[NA];NDUFB4[NA];CAVIN3[NA];NDUFB11[NA];ATP6V1G1[NA];ARHGEF12[NA];EIF3K[NA];GPR89A[NA];CCDC127[NA];RMDN3[NA];PITPNM3[NA];HELLS[NA];VDAC1[NA];ITPR3[NA];NDUFA6[NA];OSBP[NA];TMED1[NA];PITPNM2[NA];CHCHD6[NA];TAP1[NA];YIF1A[NA];NDUFA9[NA];GLB1[NA];CEPT1[NA];OSBPL10[NA];ZFPL1[NA];SLC25A1[NA];COX5B[NA];FNDC3A[NA];OSBPL6[NA];COX6B1[NA];ABCD1[NA];NDUFV2[NA];GOLIM4[NA];NEU1[NA];ATAD1[NA];ACBD5[NA];CAV1[NA];LPGAT1[NA];NDUFS2[NA];NDUFB8[NA];MGST3[NA];SURF4[NA];TTC1[NA];OSBPL11[NA];IMMT[NA];NDUFS5[NA];NDUFS1[NA];DDX58[NA];NDUFV1[NA];VKORC1[NA];PARD3[NA];TACC1[NA];ATP6V1A[NA];ERLIN2[NA];UQCRFS1[NA];MBOAT7[NA];PITPNM1[NA];NDUFA5[NA];SMARCA4[NA];PHB2[NA];COX6C[NA];ROBO2[NA];MMGT1[NA];CAVIN1[NA];NDUFV3[NA];SOAT1[NA];VDAC2[NA];NDUFA7[NA];FLOT2[NA];NDUFA2[NA];OSBPL9[NA];LSG1[NA];PHB[NA];UQCRC1[NA];FLOT1[NA];TMEM43[NA];CHCHD3[NA];CMTR1[NA];VAPB[NA];YIPF5[NA];PRKAR1A[NA];LGALS3BP[NA];VAPA[NA];NANP[NA];PEX14[NA];SLC25A12[NA];STOML2[NA];NDUFA10[NA];FKBP8[NA];CKAP4[NA];CTSA[NA];NDUFS6[NA];ZMYM1[NA];OSBPL3[NA];NDUFA12[NA];STT3B[NA];ACBD4[NA];KIDINS220[NA];ERLIN1[NA];NDUFA13[NA];FLOT2[NA];NDUFA7[NA];PCDH7[NA];CHMP2B[NA];LBR[NA];ANXA1[NA];SOAT1[NA];VDAC2[NA];HYOU1[NA];CALU[NA];TMEM43[NA];FLOT1[NA];LGALS1[NA];CHCHD3[NA];CYBRD1[NA];MRPL14[NA];IST1[NA];ALDH18A1[NA];HGS[NA];NDUFA2[NA];KTN1[NA];PHB[NA];ATP5PO[NA];UQCRC1[NA];GOLGA2[NA];MYOF[NA];CCDC115[NA];CD97[NA];STOML2[NA];HTRA1[NA];VAPB[NA];YIPF5[NA];UQCRQ[NA];ATP6AP1[NA];PTGES[NA];MLEC[NA];VAPA[NA];PDCD6[NA];GOLT1B[NA];CKAP4[NA];RNF185[NA];CXCR4[NA];ATP2C1[NA];NDUFA10[NA];NDUFA12[NA];RAB5C[NA];ATP6V1H[NA];KIDINS220[NA];LNPK[NA];NDUFS6[NA];ATP6V1F[NA];SPCS2[NA];LRP10[NA];TPI1[NA];RAB11B[NA];ERLIN1[NA];NDUFA13[NA];MGST3[NA];NDUFS1[NA];SGPP1[NA];ATP2A2[NA];CPM[NA];CD59[NA];SNTB2[NA];GPRC5A[NA];ATP6V0A1[NA];NDUFV1[NA];CLCN7[NA];CHMP4B[NA];UQCRC2[NA];CHMP1A[NA];NDUFB1[NA];IMMT[NA];ASTE1[NA];NDUFS5[NA];PHKA2[NA];NDUFA5[NA];TFRC[NA];REEP4[NA];RABAC1[NA];PHB2[NA];MMGT1[NA];CAVIN1[NA];ETFB[NA];NDUFV3[NA];C6orf120[NA];RABL3[NA];VKORC1[NA];ATP6V1A[NA];ERLIN2[NA];BCAP31[NA];MBOAT7[NA];UQCRFS1[NA];SEC22B[NA];C1QBP[NA];COX4I1[NA];ATP6V1D[NA];NCKAP5L[NA];DHRS7B[NA];NDUFS4[NA];FAM8A1[NA];ATP6V1B2[NA];OSBPL8[NA];CHSY1[NA];SUN2[NA];ATP1A1[NA];TCIRG1[NA];XPR1[NA];ABCD3[NA];TMEM109[NA];RECQL[NA];ATP6V1G1[NA];TMEM237[NA];DDR2[NA];DSG2[NA];SLC38A2[NA];MCU[NA];ATP6V0D1[NA];PDCD6IP[NA];ATP6V1E1[NA];NDUFB4[NA];CAVIN3[NA];CHCHD6[NA];ENDOD1[NA];ATP5F1A[NA];INTS7[NA];DNAJC11[NA];FUNDC2[NA];VDAC1[NA];NDUFS3[NA];NDUFA6[NA];PIP4P1[NA];ABCG2[NA];TGFBR1[NA];CYC1[NA];NDUFB7[NA];NDUFA9[NA];SARAF[NA];COX5A[NA];GOLIM4[NA];ACBD5[NA];CAV1[NA];ATP5F1B[NA];NDUFV2[NA];RAB8A[NA];UBAC2[NA];ATP5PF[NA];CDC42[NA];NDUFA8[NA];LIFR[NA];ITSN2[NA];PLGRKT[NA];NDUFS2[NA];JUP[NA];NDUFB8[NA];PACSIN3[NA];PATJ[NA];PSMD2[NA];SLC35E1[NA];TFRC[NA];GJB2[NA];ACKR3[NA];SLC38A2[NA];MUC13[NA];ANTXR1[NA];CLSPN[NA];RAB11FIP2[NA];SNX3[NA];PHB2[NA];TFRC[NA];CHMP4B[NA];ATP6V0A1[NA];NOS1AP[NA];SLC38A5[NA];SLC35E1[NA];CHMP1A[NA];TTC17[NA];CLINT1[NA];KIDINS220[NA];MITD1[NA];RAB5C[NA];CKAP4[NA];SCFD1[NA];ATP2C1[NA];COPS2[NA];LRR1[NA];STOML2[NA];MYOF[NA];YIPF5[NA];FAF2[NA];RMDN3[NA];IST1[NA];CHCHD3[NA];FLOT1[NA];NDUFB11[NA];MUC13[NA];CAVIN3[NA];RASSF8[NA];PHB[NA];ATP6V0D1[NA];ATP6V1B2[NA];PPIA[NA];LETMD1[NA];OCIAD1[NA];NDUFA7[NA];FLOT2[NA];VDAC2[NA];XPR1[NA];SOAT1[NA];CHMP2B[NA];WDFY3[NA];CAVIN1[NA];HAUS5[NA];ATP6V1A[NA];CLCN7[NA];GPRC5A[NA];NDUFS1[NA];NDUFS5[NA];CHMP2A[NA];IMMT[NA];CAV1[NA];ACBD5[NA];TMED10[NA];RAB43[NA];STX7[NA];COX6B1[NA];NDUFB7[NA];COX5B[NA];IGF2R[NA];VDAC1[NA];DSTN[0.779];SORD[0.708];TSPAN5[0.807];GJB2[0.999];RAB5C[0.985];RAB7A[0.655];VAPA[0.999];GOLT1B[0.998];CYP20A1[0.796];YIPF3[0.964],0.27550,0.231108725070953,N,,,,3.75,99.6,0.1519897,,,0.535969010144802,0.405692826785737,0.0583381630694615,0.530065441246827,0.409440280402211,0.0604942783509625,0.546318434765505,0.390579912199051,0.0631016530354436,2.1958e-01,6.5597e-01,1.2445e-01,,,,,9550.40686,21.12347,High,High,High,High,High,High,High,High,High,High,,0.0007987220447284345,0.0,0.0007987220447284345,0.0,0.2288338658146964,0.0327476038338658,0.1098242811501597,0.0127795527156549,,N,N,N,0.114371359811310,N,Piezo1,"homeostasis/metabolism phenotype; growth/size/body region phenotype; embryo phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); ",piezo1,nucleate erythrocyte,decreased amount,abnormal,0.016316420959001553,Tumour Suppressor,tools
7,KAT2A,0,,GRCh38,chr17,42120363,42120363,+,Silent,SNP,G,G,A,rs536716483,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,G,G,,,,,,,,,,,,,,,,c.471C>T,p.%3D,p.H157H,ENST00000225916,3/18,64,29,34,37,37,0,"KAT2A,synonymous_variant,p.%3D,ENST00000225916,;CTD-2132N18.3,synonymous_variant,p.%3D,ENST00000592574,;RAB5C,downstream_gene_variant,,ENST00000346213,;RAB5C,downstream_gene_variant,,ENST00000393860,;HSPB9,upstream_gene_variant,,ENST00000355067,;CTD-2132N18.3,missense_variant,p.Thr150Met,ENST00000592248,;KAT2A,synonymous_variant,p.%3D,ENST00000465682,;CTD-2132N18.3,3_prime_UTR_variant,,ENST00000585562,;KAT2A,upstream_gene_variant,,ENST00000588759,;KAT2A,upstream_gene_variant,,ENST00000592310,;",A,ENSG00000108773,ENST00000225916,Transcript,synonymous_variant,525,471,157,H,caC/caT,"rs536716483,COSM1479581",,,-1,KAT2A,HGNC,4201,protein_coding,YES,CCDS11417.1,ENSP00000225916,KAT2A_HUMAN,K7ERS6_HUMAN,UPI000000D978,,,,3/18,,"hmmpanther:PTHR22880:SF124,hmmpanther:PTHR22880,Pfam_domain:PF06466,PIRSF_domain:PIRSF003048",A:0.0002,A:0,A:0,,A:0.001,A:0,A:0,,,,"0,1",,,,,,LOW,,SNV,,,"0,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GATACGTGGTC,by1000G,5,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,KAT2A,KAT2A,ENSG00000108773,17,GCN5L2,GCN5;PCAF-b,Q92830,KAT2A_HUMAN,2648,CCDS11417,NM_021078,uc002hyx.3,602301,602301,lysine acetyltransferase 2A,,,,HTLV-I infection - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Notch signaling pathway - Homo sapiens (human);TGF-Ncore;Notch Signaling Pathway;Notch Signaling Pathway;B-WICH complex positively regulates rRNA expression;Positive epigenetic regulation of rRNA expression;Disease;RUNX3 regulates NOTCH signaling;Signal Transduction;Epigenetic regulation of gene expression;Gene expression (Transcription);Transcriptional regulation by RUNX3;Generic Transcription Pathway;Post-translational protein modification;Metabolism of proteins;RNA Polymerase I Promoter Clearance;RNA Polymerase II Transcription;Chromatin modifying enzymes;Notch-HLH transcription pathway;RNA Polymerase I Transcription;NICD traffics to nucleus;RNA Polymerase I Transcription Initiation;Pre-NOTCH Transcription and Translation;Pre-NOTCH Expression and Processing;Signaling by NOTCH1;NOTCH3 Intracellular Domain Regulates Transcription;Signaling by NOTCH3;Signaling by NOTCH;HATs acetylate histones;Ub-specific processing proteases;Deubiquitination;Chromatin organization;C-MYC pathway;Direct p53 effectors;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Signaling by NOTCH1 PEST Domain Mutants in Cancer;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer;Signaling by NOTCH1 in Cancer;Diseases of signal transduction;Validated targets of C-MYC transcriptional activation;NOTCH1 Intracellular Domain Regulates Transcription;Regulation of nuclear SMAD2/3 signaling;E2F transcription factor network,hsa04330,Notch signaling pathway,"FUNCTION: Protein lysine acyltransferase that can act both as a acetyltransferase and succinyltransferase, depending on the context (PubMed:29211711). Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes (PubMed:29211711). Succinylation of histones gives a specific tag for epigenetic transcription activation (PubMed:29211711). Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation (PubMed:29211711). In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase (PubMed:17301242, PubMed:19103755, PubMed:29211711). Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles (PubMed:17301242, PubMed:19103755). Acetylation of histones gives a specific tag for epigenetic transcription activation (PubMed:17301242, PubMed:19103755, PubMed:29211711). Involved in long-term memory consolidation and synaptic plasticity: acts by promoting expression of a hippocampal gene expression network linked to neuroactive receptor signaling (By similarity). Acts as a positive regulator of T-cell activation: upon TCR stimulation, recruited to the IL2 promoter following interaction with NFATC2 and catalyzes acetylation of histone H3 at Lys-9 (H3K9ac), leading to promote IL2 expression (By similarity). Also acetylates non-histone proteins, such as CEBPB, PLK4 and TBX5 (PubMed:17301242, PubMed:29174768, PubMed:27796307). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). {ECO:0000250|UniProtKB:Q9JHD2, ECO:0000269|PubMed:17301242, ECO:0000269|PubMed:19103755, ECO:0000269|PubMed:27796307, ECO:0000269|PubMed:29174768, ECO:0000269|PubMed:29211711}.; ",,,,,,,Vitiligo[27723757];Coronary artery disease[29212778;29212778;29212778];,,,"in utero embryonic development;somitogenesis;cytokine production;neural tube closure;chromatin remodeling;regulation of transcription by RNA polymerase II;heart development;long-term memory;cell population proliferation;response to organic cyclic compound;viral process;histone deubiquitination;protein deubiquitination;internal peptidyl-lysine acetylation;telencephalon development;metencephalon development;midbrain development;positive regulation of cell projection organization;regulation of protein stability;response to nutrient levels;positive regulation of histone acetylation;multicellular organism growth;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;histone H3 acetylation;histone H4-K12 acetylation;histone H3-K14 acetylation;regulation of regulatory T cell differentiation;positive regulation of gene expression, epigenetic;positive regulation of transcription by RNA polymerase II;negative regulation of centriole replication;regulation of synaptic plasticity;intracellular distribution of mitochondria;regulation of T cell activation;limb development;cellular response to tumor necrosis factor;alpha-tubulin acetylation;histone succinylation;cellular response to nerve growth factor stimulus;positive regulation of cardiac muscle cell differentiation",nuclear chromatin;extracellular space;nucleus;nucleoplasm;Ada2/Gcn5/Ada3 transcription activator complex;centrosome;STAGA complex;transcription factor TFTC complex;oxoglutarate dehydrogenase complex;mitotic spindle,chromatin binding;transcription coactivator activity;histone acetyltransferase activity;protein binding;transcription factor binding;H3 histone acetyltransferase activity;protein phosphatase binding;thiol-dependent ubiquitinyl hydrolase activity;histone deacetylase binding;histone acetyltransferase activity (H4-K12 specific);peptide-lysine-N-acetyltransferase activity;histone succinyltransferase activity,"Expressed in all tissues tested, with most abundant expression in ovary.;",intestine;pharynx;skin;stomach;lacrimal gland;testis;lens;unclassifiable (Anatomical System);cerebellum;choroid;kidney;uterus;whole body;retina;pancreas;head and neck;mammary gland;spinal cord;skeletal muscle;visual apparatus;cervix;fovea centralis;hippocampus;spleen;liver;cartilage;endometrium;bone;brain;blood;heart;bone marrow;lung;salivary gland;ovary;thyroid;macula lutea;lymph node;oesophagus;bladder;frontal lobe;colon;placenta;prostate;breast;optic nerve;,caudate nucleus;amygdala;prefrontal cortex;dorsal root ganglion;cingulate cortex;atrioventricular node;superior cervical ganglion;skeletal muscle;globus pallidus;cerebellum;,TRRAP[15115762;10373431;18418385];BUB1B[24825348];SGF29[26496610];MED16[18418385];AATF[29232376];TAF5L[10373431];MED17[18418385];MED12[18418385;26496610];MED14[18418385];MED13[18418385];HIST1H3A[29568061];ATXN7[15115762];E2F1[24502362;20972224];E2F3[22157815];VHL[17353931];TP53BP1[29656893];MAGEA10[26496610];KAT14[20562830];MED1[18418385];BATF2[21988832];WDHD1[21725360];TAF10[10373431];USP22[19615732];H2AFX[20224553];SMARCA5[30021884];SIRT2[12887892];SUPT3H[10373431];MED23[18418385];KAT2B[10373431];CDK8[18418385;29568061];KAT2A[12482983];TADA2A[12482983;20508642;20562830];MED24[18418385];ZZZ3[20562830];CDK4[24870244];FUBP1[21779003];TADA3[10373431];TAF5[10373431];TAF4[10373431];TAF2[10373431];,TRRAP[10611234;16494529;18418385;20508642;20946988;12660246];RBPJ[10747963];IKZF5[28514442];STK11[28628118];RASSF1[28628118];CCND2[28628118];MYC[10611234;16287840;17967894;20691906;12660246;28628118];MYB[10656693];AKT1[28628118];UBAP2L[18838386];SUPT20H[18838386];ATXN7L3[18206972;21746879;26186194;28514442;27601583];MAP3K7[18838386];CSRP2BP[18838386];MAP2K3[28628118];MED1[17967894;20508642];WDHD1[21987584;21725360];KRT2[20946988];TSC1[28628118];MAPK8IP3[20946988];SUPT7L[17967894];EID1[11964378];PYGO2[20937768];CCNE1[28628118];HECW2[24163370];KDELR2[28628118];TP53[18250150;28628118];HIST2H3C[16096645];ENY2[18206972];TTYH2[28628118];MAX[10611234];PRKDC[9488450];CTBP1[16122695];CUL2[19339690];GATA2[15001660];TAF5L[20946988;12660246];HSD11B2[12878208];LDHA[20946988];HIST1H3A[16287840;14752096;19103755;18838386];ATXN7[18206972;16494529;15932940;17375202;19843541];PCBP2[20946988];MBIP[18838386;26186194;28514442];PLAC1[28514442];ZNF148[21828133];PPARGC1A[24371122];MAGEA10[26186194;26496610;28514442];SMAD2[15009097];SMAD1[15009097];XRCC6[9488450];DR1[18838386];XBP1[25426559];SMAD3[15009097];UBE2I[15561718];XRCC5[9488450];H3F3A[28300060];SMAD9[15009097];SMAD5[15009097];PBX1[23044487];HIST1H4A[16287840;14752096];TADA2A[9488450;8972232;20508642;18838386];ZZZ3[18838386];CDK6[28628118];YEATS2[18838386];TADA3[18089809;26186194;18838386;28514442];CDK2[19773423];TADA1[20946988];TCF3[23044487;28628118];NF2[28628118];MED16[17967894];GRM1[28628118];MED17[17967894];HIST2H2AC[16096645;8684459];MED12[26496610];WDR5[18838386;26186194;28514442];HIST1H1B[10373431];SREBF1[20534441];BATF2[21988832];TUBB[20691906];ACTL6A[11839798];H2AFX[20224553];COMMD1[19339690];SIRT1[22542455;23382074];SUPT3H[11406595;11564863;17967894;20946988;23044487;12660246];HIST2H2BE[16096645;8684459];TIRAP[23382074];NME1[25582197];DDB1[11564863;21987584];TAF6L[28514442];KAT2A[21157427];LATS2[28628118];HIST4H4[18206973;8684459];IRF1[10022868];IRF2[10022868];PPARG[19596656];DTL[21987584];CCDC101[21746879;20850016;26186194;18838386;26496610;28514442];BECN1[28628118];CEBPB[17301242];SF3B3[20946988];TAF9[11564863;17967894;20946988;12660246];CRX[15932940];RELA[19339690;28628118];HIST2H4A[16096645];FZR1[28628118];E2F1[11418595];E2F4[11418595];TAF9B[15899866];RAE1[20946988];CDKN2B[28628118];USP22[18206972;19615732;21746879;23382074;18206973;18838386];TAF10[17643375;17375202;12601814];PTGES3[23022381];MAPK14[28628118];ADAT3[20946988];CUL4A[21987584];HIST3H3[8684459;20850016];TACC3[14767476];CTNNB1[16510874;20937768];TAF6[20946988];HDGF[20946988];TACC1[14767476];TACC2[14767476];TAF4[11406595];PTF1A[18834332];TAF3[11438666];,SAP130[NA];SGF29[NA];TAF5L[NA];SUPT3H[NA];ATXN7L3[NA];TAF10[NA];TADA3[NA];TADA1[NA];TADA2B[NA];TAF6L[NA];TAF12[NA];ATXN7[NA];USP22[NA];TAF9[NA];SUPT20H[NA];SUPT7L[NA];ENY2[NA];TRRAP[NA];TADA3[NA];TAF10[NA];TADA2B[NA];ATXN7[NA];TAF9B[NA];USP22[NA];TRRAP[NA];TRRAP[1];TADA2B[NA];TAF9[NA];E2F4[NA];TFDP2[NA];NR3C2[0.998];IRF1[0.999];SGF29[NA];MED1[NA];TAF4[NA];CDK8[NA];MED15[NA];TRRAP[NA];TADA2A[1];MED21[NA];MED9[NA];CDK19[NA];MED12[NA];MED6[NA];SPTLC1[NA];MED24[NA];MED17[NA];MEN1[NA];MED23[NA];CDK8[NA];CASC3[NA];MED25[NA];KLHL12[NA];MED15[NA];TADA3[NA];MED11[NA];TAF15[NA];MED20[NA];CCDC82[NA];ECD[NA];MED8[NA];MED4[NA];SEC61B[NA];MED27[NA];MED30[NA];COX20[NA];MED16[NA];MED31[NA];MED13[NA];MED10[NA];MED13L[NA];SIRT6[NA];MED29[NA];MED14[NA];MED7[NA];MED1[NA];MED18[NA];LZTS2[NA];H2AFX[NA];KAT2B[NA];HAT1[NA];SMARCA4[NA];TADA3[NA];KAT2B[NA];TAF5L[NA];SUPT3H[NA];TAF10[NA];TADA2A[NA];ATXN7[NA];TAF10[NA];TRRAP[NA];ATP1A1[NA];KRT1[NA];SUN2[NA];INTS5[NA];SEC61A1[NA];NOC2L[NA];INTS3[NA];KDM1A[NA];AGPAT5[NA];HSPA5[NA];GPAM[NA];SHOC2[NA];KRT14[NA];ALB[NA];MSH6[NA];LMNA[NA];HELLS[NA];PARP1[NA];SCD[NA];IMPA1[NA];MYO1C[NA];PGAP1[NA];GTPBP2[NA];HNRNPU[NA];E2F3[NA];XRCC5[NA];SLC25A10[NA];DHX33[NA];EFTUD2[NA];NUP93[NA];RBSN[NA];INTS6[NA];PRKDC[NA];SLC2A1[NA];IMMT[NA];AKAP8[NA];POLG[NA];CTNNB1[NA];CTNNA1[NA];SMARCA1[NA];KRT9[NA];MYO1B[NA];ATP2A2[NA];L3MBTL3[NA];TRIM28[NA];MRPL57[NA];NDUFS1[NA];SLC25A5[NA];RAB13[NA];MSH2[NA];ITGB1[NA];NAT10[NA];NOLC1[NA];TRRAP[NA];AHCTF1[NA];SLC27A4[NA];SMPD4[NA];DDX41[NA];NUMA1[NA];WRN[NA];SFMBT1[NA];AFG3L2[NA];MYBBP1A[NA];SLC25A4[NA];ENOX2[NA];TFRC[NA];HSPA9[NA];SP1[NA];SLC25A3[NA];RHOT1[NA];ZBED4[NA];GPD2[NA];LRPPRC[NA];LBR[NA];TCERG1[NA];ACADS[NA];NOTCH3[NA];ALPI[NA];SLC25A6[NA];TRIM23[NA];EEF1A1[NA];PMM1[NA];ATAD3A[NA];RPS27L[NA];DDB1[NA];CPT1A[NA];HADHA[NA];TMEM33[NA];CCDC9[NA];NCL[NA];MYO6[NA];CEBPZ[NA];NPLOC4[NA];TCF7L2[NA];DDX21[NA];ZNF148[NA];RB1[NA];TNXB[NA];HSPA6[NA];CLASP1[NA];HLTF[NA];MATR3[NA];TECR[NA];STT3A[NA];RPS3[NA];SLC16A3[NA];DOCK8[NA];RFC1[NA];NUP98[NA];NUP205[NA];DHX9[NA];DHCR7[NA];XRCC6[NA];RHOT2[NA];ZNF300[NA];PCLO[NA];ADGRF5[NA];NCAPG[NA];ZC3H11A[NA];MED14[NA];CDK8[NA];MED23[NA];MED1[NA];MED15[NA];TRRAP[NA];CNOT10[NA];POFUT2[NA];CNOT1[NA];PREPL[NA];SND1[NA];DEDD[NA];ATXN7L2[NA];ATXN7L3B[NA];ATXN7L3[NA];KLHL23[NA];SUPT3H[NA];TAF5L[NA];TRRAP[NA];SGF29[NA];SUPT7L[NA];ENY2[NA];KIF7[NA];AASDHPPT[NA];SUPT20H[NA];TAF9[NA];USP22[NA];USP27X[NA];SIRT1[NA];TAF6L[NA];TADA2B[NA];TADA1[NA];TADA3[NA];E2F1[NA];KAT2B[NA];BUB1B[0.997];TADA2A[NA];SGF29[NA];KAT14[NA];TADA2A[NA];MED1[NA];MFAP1[NA];RAD18[NA];TP53BP1[NA];POLH[NA];SRRM1[NA];GTF3C4[NA];MSH2[NA];ZSCAN21[NA];MED19[NA];HIVEP1[NA];MED8[NA];MTA3[NA];MBIP[NA];CTR9[NA];WDR5[NA];GTF2F1[NA];ELOA[NA];NSRP1[NA];MNAT1[NA];MEPCE[NA];DDX10[NA];NUP205[NA];SLC4A1AP[NA];GNL2[NA];MDC1[NA];MED23[NA];POLR3C[NA];CDK8[NA];WAC[NA];ZNF830[NA];MED25[NA];MED15[NA];TADA3[NA];WIZ[NA];BRIP1[NA];NACC1[NA];MED24[NA];RNF40[NA];TAF9B[NA];KPNA1[NA];MED17[NA];PAF1[NA];MED28[NA];TAF6L[NA];WDR61[NA];MED22[NA];HDGF[NA];EHMT1[NA];CDC16[NA];MED21[NA];POLA1[NA];MED9[NA];ESF1[NA];MED12[NA];BRD8[NA];POLA2[NA];MTBP[NA];FTSJ3[NA];RIF1[NA];CDK11B[NA];MED31[NA];MED16[NA];LAS1L[NA];MED6[NA];RBM28[NA];DUT[NA];PRIM2[NA];KAT2B[NA];PPP4R3A[NA];PCID2[NA];ARID4B[NA];CDC37[NA];GTF3C3[NA];LARP7[NA];RNF20[NA];ELOB[NA];ZNF131[NA];MED30[NA];PRIM1[NA];BCCIP[NA];AQR[NA];MED11[NA];CXorf57[NA];MED20[NA];KAT14[NA];YEATS2[NA];MED4[NA];MED27[NA];CCNC[NA];KIF4A[NA];PPIL2[NA];PNISR[NA];GTF2E2[NA];TADA2A[NA];PPM1G[NA];PES1[NA];MED7[NA];SBNO1[NA];MASTL[NA];GPALPP1[NA];SUGP2[NA];MED1[NA];HAT1[NA];GTF2E1[NA];ZNF281[NA];WAPL[NA];MED18[NA];MED14[NA];SURF6[NA];XAB2[NA];MGA[NA];WDHD1[NA];MED12L[NA];GTF3C5[NA];MED13[NA];MED10[NA];MED13L[NA];MYSM1[NA];MED29[NA];GTF3C1[NA];ISY1[NA];ZMYM4[NA];SIRT2[0.994];SGF29[NA];TADA2A[NA];WDHD1[0.998];TAF10[NA];ATXN7[NA];MED12[NA];MED24[NA];MED17[NA];MED23[NA];TRRAP[NA];MED16[NA];MED13[NA];MED14[NA];MED1[NA];FAM216A[NA];QSER1[NA];MTUS1[NA];XPO1[NA];MTCL1[NA];FOXJ2[NA];NCOA2[NA];MAGEA10[NA];SLAIN2[NA];SCO2[NA];CDK8[NA];MED15[NA];TRRAP[NA];MED1[NA];VHL[0.936];BATF2[0.960];TADA3[NA];TRRAP[NA];TAF4[NA];TAF10[NA];TAF2[NA];TAF5[NA];SUPT3H[NA];TAF5L[NA];KAT8[NA];SMARCA4[NA];KAT5[NA];H2AFX[NA];CDC27[NA];GTF3C2[NA];BRIX1[NA];NUSAP1[NA];LIG3[NA];RAD18[NA];ZMYM2[NA];CTCF[NA];NAT10[NA];GTF3C4[NA];ZSCAN21[NA];UBN1[NA];MSH2[NA];L3MBTL3[NA];DNMT1[NA];NIP7[NA];NUMA1[NA];MYBBP1A[NA];BRD2[NA];INTS1[NA];CBX1[NA];TRRAP[NA];TSR1[NA];HMGB2[NA];ARID2[NA];MTA3[NA];ZNF780A[NA];ELOA[NA];RSBN1[NA];CHD3[NA];GTF2F1[NA];ZNF644[NA];RSBN1L[NA];TADA2B[NA];RFC1[NA];DHX37[NA];UBR4[NA];MEPCE[NA];PSIP1[NA];MDC1[NA];MEN1[NA];XRCC6[NA];ZKSCAN4[NA];PDS5B[NA];GNL2[NA];RNASEH2A[NA];WIZ[NA];ZNF512B[NA];ANP32E[NA];MKI67[NA];ZNF830[NA];GTPBP4[NA];HADHA[NA];UIMC1[NA];MORC2[NA];GTF2F2[NA];MRPS26[NA];BUD31[NA];ANAPC5[NA];PTCD3[NA];TAF6L[NA];DDX18[NA];STAU1[NA];PSMB3[NA];CDC16[NA];HDGF[NA];EHMT1[NA];SMU1[NA];DMAP1[NA];MYSM1[NA];RFC4[NA];RACGAP1[NA];MSH3[NA];RBBP5[NA];LBR[NA];PBRM1[NA];TAF4[NA];BBX[NA];TAF1[NA];BRD7[NA];CDC23[NA];CACTIN[NA];TAF9[NA];YY1[NA];KNOP1[NA];UBR7[NA];RNASEH2B[NA];PWP1[NA];PCGF6[NA];NELFB[NA];RBM34[NA];SUPT20H[NA];RFC3[NA];ADNP[NA];RIF1[NA];ZKSCAN8[NA];NFIA[NA];DDX24[NA];KRR1[NA];POP1[NA];BLM[NA];ANAPC16[NA];KIF18B[NA];ASF1B[NA];GATAD2A[NA];ZFP91[NA];RBM28[NA];ZNF512[NA];SARNP[NA];HMGXB4[NA];KRI1[NA];ARID4B[NA];SMCHD1[NA];C17orf49[NA];BPTF[NA];HIST1H3A[NA];LEMD3[NA];TMPO[NA];RFC5[NA];MSH6[NA];RAD21[NA];DDX52[NA];USP48[NA];NASP[NA];GTF3C3[NA];RPP30[NA];ANAPC1[NA];RFXAP[NA];ATRX[NA];GLYR1[NA];KIFC1[NA];RRP12[NA];DDX31[NA];RPL8[NA];SMC1A[NA];ARID3A[NA];AQR[NA];PRIM1[NA];BCCIP[NA];POGZ[NA];FEN1[NA];TBP[NA];HMGB3[NA];EMD[NA];GTF2E2[NA];TAF5[NA];HIRA[NA];SHCBP1[NA];KIF4A[NA];ZNF691[NA];PPM1G[NA];PDS5A[NA];CHAF1B[NA];TAF2[NA];TAF6[NA];DEK[NA];XRCC5[NA];DNAJC8[NA];DDX54[NA];PES1[NA];CHAF1A[NA];EHMT2[NA];TMPO[NA];WAPL[NA];ZNF281[NA];CUX1[NA];CSTF3[NA];RPL13A[NA];RFX5[NA];MGA[NA];KMT2B[NA];RFC2[NA];GATAD2B[NA];HDGFL2[NA];HP1BP3[NA];HELLS[NA];MED14[NA];ASF1A[NA];CMAS[NA];PARP1[NA];KIF23[NA];ZBTB10[NA];ELF2[NA];GTF3C5[NA];CHD8[NA];SMC3[NA];GTF3C1[NA];RPL3[NA];ZMYM4[NA];STAG2[NA];SDAD1[NA];FUBP1[NA];USP22[NA];CDK4[0.999];TAF6L[NA];EDC4[NA];SUPT20H[NA];CCDC82[NA];SUPT7L[NA];TADA3[NA];TADA1[NA];MBIP[NA];TADA2B[NA];TADA2A[NA];SGF29[NA];YEATS2[NA];TAF5L[NA];SUPT3H[NA];SUPT3H[1];MAX[0.999];TAF5L[1];TAF9[1];MYC[0.999];NOTCH1[0.998];EP300[1];TACC2[0.990];TACC3[0.844];TACC1[0.876];TAF5[NA];TADA2A[NA];TAF2[NA];TAF5L[NA];SUPT3H[NA];TAF4[NA];TADA3[NA];TRRAP[NA];SAP130[NA];TAF3[NA];RAD50[NA];MSH6[NA];MSH2[NA];TRRAP[NA];BRCA1[NA];ATXN7[0.999];IRF7[0.999];CREBBP[1];SF3B3[NA];TAF9[NA];TAF12[NA];TAF6L[NA];TADA3[NA];TAF5[NA];TRRAP[NA];SUPT3H[NA];TAF5L[NA];TAF4[NA];TAF10[NA];TAF2[NA];TAF6[NA];XRCC6[0.999];TAF4[NA];SUPT3H[NA];TAF5L[NA];TAF10[NA];TAF6[NA];TAF2[NA];TADA3[NA];TAF5[NA];TAF6L[NA];TAF12[NA];TAF9B[NA];ATXN7[NA];SF3B3[NA];TAF9[NA];TRRAP[NA];TAF7[NA];ATXN7[NA];TAF6L[NA];TAF12[NA];TAF9[NA];SF3B3[NA];TAF7[NA];TRRAP[NA];TAF5[NA];TAF10[NA];TAF2[NA];TAF6[NA];TADA3[NA];TAF4[NA];SUPT3H[NA];TAF5L[NA];TADA3[NA];TRRAP[NA];MSH2[NA];TAF9[NA];BRCA1[NA];TAF10[NA];TAF5L[NA];SUPT3H[NA];MSH6[NA];TRRAP[NA];TADA3[NA];TADA2B[NA];TAF9B[NA];USP22[NA];ATXN7L3[NA];TAF10[NA];ATXN7L3[NA];TAF10[NA];ATXN7L2[NA];ATXN7L1[NA];SGF29[NA];TAF5L[NA];SUPT3H[NA];ADA[NA];TAF9[NA];TAF12[NA];TAF6L[NA];TAF9B[NA];TADA3[NA];TADA2B[NA];SUPT7L[NA];TRRAP[NA];USP22[NA];SUPT20H[NA];DR1[NA];TADA2A[NA];SGF29[NA];KAT14[NA];YEATS2[NA];TADA3[NA];WDR5[NA];MBIP[NA];DR1[NA];POLE4[NA];SGF29[NA];KAT14[NA];YEATS2[NA];POLE3[NA];WDR5[NA];MBIP[NA];TADA2A[NA];TADA3[NA];UBAP2L[NA];MAP3K7[NA];TRRAP[NA];MED23[NA];MED17[NA];MED24[NA];MED14[NA];MED16[NA];MED12[NA];ESR1[NA];MED1[NA];MED13[NA];TRRAP[NA];TAF7[NA];TADA3[NA];TAF12[NA];TAF6L[NA];ATXN7[NA];SF3B3[NA];TAF9[NA];TAF4[NA];SUPT3H[NA];TAF5L[NA];TAF13[NA];TAF10[NA];TAF6[NA];TAF2[NA];TAF5[NA];TAF5L[NA];SUPT3H[NA];TADA3[NA];TAF10[NA];TADA1[NA];TAF12[NA];TAF6L[NA];ATXN7[NA];SF3B3[NA];TAF9[NA];SUPT7L[NA];TRRAP[NA];SF3B3[NA];TAF9[NA];TAF12[NA];TAF6L[NA];TADA3[NA];TADA1[NA];TRRAP[NA];SUPT7L[NA];SUPT3H[NA];TAF5L[NA];TAF10[NA];SUPT3H[NA];TAF9[NA];ACTL6A[1];IRF2[0.996];RBPJ[0.999];XRCC5[0.999];PRKDC[1];TAF4[1];DDB1[0.999];ATXN7L3[1];USP22[1];ENY2[1];TAF10[1];CTNNB1[0.977];HIST1H3A[0.999];HIST1H4A[0.022];HSD11B2[0.318];CTBP1[0.999];EID1[0.110];CRX[0.999];E2F1[0.999];E2F4[1];TP53[0.999];TADA3[1];SMAD2[0.999];SMAD3[0.999];SMAD1[0.999];SMAD5[0.999];SMAD9[0.999];GATA2[0.999];MED1[0.999];MED16[0.999];MED17[0.999];SUPT7L[1];CEBPB[0.999];H2AFX[0.999];SREBF1[0.917];ADAT3[0.049];TAF6[1];TADA1[1];KRT2[0.979];RAE1[0.998];PCBP2[0.999];SF3B3[0.999];MAPK8IP3[0.487];LDHA[0.328];HDGF[0.995];PYGO2[0.998];TUBB[0.974];TAF3[1];COMMD1[0.991];RELA[0.999];CUL2[0.999];DTL[0.984];CUL4A[0.997];CDK2[0.999];SIRT1[0.999];ZNF148[0.911];SGF29[1];YEATS2[1];DR1[1];MBIP[1];WDR5[1];MAP3K7[1];PBX1[0.999];TCF3[0.999];HIST2H2AC[0.999];HIST2H2BE[0.999];HIST2H3A[0.999];TAF9B[1];TIRAP[0.235];HIST1H1B[0.998];PTGES3[0.986];HECW2[0.083];PPARGC1A[0.999];HIST3H3[0.999];PTF1A[0.999];MYB[0.999];PPARG[0.999];UBE2I[0.999];MAGEA10[0.006];UBAP2L[1];KAT14[1];SUPT20H[1];MED12[0.999];XBP1[0.999];NME1[0.989];TAF6L[1];IKZF5[0.931];PLAC1[0.005];TAF4[NA];TAF5[NA];TAF6[NA];TAF2[NA];ATXN7L3[NA];TAF10[NA];TAF5L[NA];SUPT3H[NA];TAF7[NA];ENY2[NA];SAP130[NA];TRRAP[NA];TAF9[NA];USP22[NA];ATXN7[NA];TAF12[NA];TADA3[NA];MED23[NA];TRRAP[NA];MED12[NA];MED13[NA];MED24[NA];MED14[NA];MED17[NA];MED1[NA];EREG[NA];MED16[NA];USP22[NA];TAF9[NA];TAF6L[NA];TAF12[NA];ATXN7[NA];TADA3[NA];TADA1[NA];SGF29[NA];TRRAP[NA];SAP130[NA];ENY2[NA];SUPT7L[NA];SUPT3H[NA];TAF5L[NA];TAF10[NA];ATXN7L3[NA];SUPT7L[NA];TRRAP[NA];TADA1[NA];TADA3[NA];TAF6L[NA];TAF12[NA];TAF9[NA];USP22[NA];TAF5L[NA];SUPT3H[NA];SAP130[NA];TADA2A[NA];TAF10[NA];RAD50[0.999];ESRRA[0.999];BRCA1[0.999];MSH2[0.999],0.97504,0.703963398933411,Y,0.618173734,0.18545,,-1.16,6.17,0.1293891,-1.300972132,5.385217758,0.40833206009159,0.59166493811404,3.00179436991838e-06,0.592594509438849,0.407401995552847,3.49500830416444e-06,0.970098444179181,0.0299014671203364,8.87004823417801e-08,5.4023e-01,4.5977e-01,1.9966e-07,0.218028925701031,0.443468417503612,0.418912308560044,N,39.12932,1.16016,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,5.43E-01,0.0,0.0,0.0,0.0,0.0119808306709265,0.0003993610223642173,0.0051916932907348,0.0003993610223642173,E,E,E,N,0.999999999389872,E,Kat2a,"nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; skeleton phenotype; embryo phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; ",kat2a,paired fin,decreased size,abnormal,,Unknown,no info
8,ZNF574,0,,GRCh38,chr19,42080914,42080914,+,Missense_Mutation,SNP,G,G,A,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,G,G,,,,,,,,,,,,,,,,c.2308G>A,p.Asp770Asn,p.D770N,ENST00000600245,2/2,28,19,9,19,19,0,"ZNF574,missense_variant,p.Asp860Asn,ENST00000222339,;ZNF574,missense_variant,p.Asp770Asn,ENST00000359044,;ZNF574,missense_variant,p.Asp770Asn,ENST00000600245,;ZNF574,downstream_gene_variant,,ENST00000597391,;CTB-59C6.3,upstream_gene_variant,,ENST00000594531,;",A,ENSG00000105732,ENST00000600245,Transcript,missense_variant,2963,2308,770,D/N,Gac/Aac,COSM1481127,,,1,ZNF574,HGNC,26166,protein_coding,YES,CCDS12596.1,ENSP00000469029,ZN574_HUMAN,"Q9NT61_HUMAN,M0R133_HUMAN",UPI00001AE536,,deleterious(0.01),probably_damaging(0.945),2/2,,"PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF38,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667",,,,,,,,,,,1,,,,,,MODERATE,,SNV,,,1,,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GTCCAGACTGT,,5,D,N,,19,42585066,19,47276906,860;770;770,ZNF574;ZNF574;ZNF574,ENSG00000105732;ENSG00000105732;ENSG00000105732,ENST00000222339;ENST00000600245;ENST00000359044,ENSP00000222339;ENSP00000469029;ENSP00000351939,A0A0C4DFM2;Q6ZN55;Q6ZN55,A0A0C4DFM2_HUMAN;ZN574_HUMAN;ZN574_HUMAN,c.2578G>A;c.2308G>A;c.2308G>A,p.D860N;p.D770N;p.D770N,c.2578G>A;c.2308G>A;c.2308G>A,p.Asp860Asn;p.Asp770Asn;p.Asp770Asn,c.2578G>A;c.2308G>A;c.2308G>A,p.Asp860Asn;p.Asp770Asn;p.Asp770Asn,alternative2;principal3;principal3,Y;Y;Y,3;2;1,YES;.;.,+;+;+,GAC;GAC;GAC,1;1;1,0;0;0,G,G/G,G/G,G/G,G/G,0.022;.;0.043,0.48642,D;.;D,0.047;0.068;0.068,0.48855,D;T;T,.;0.995;0.995,0.67487,.;D;D,.;0.917;0.917,0.65306,.;D;D,0.000044,0.53742,D,0.073652,0.994229;0.989408,0.42205,D;D,simple_aae;simple_aae,D860N;D770N,.;0.765;0.765,0.19305,.;N;N,3.2;1.08;1.08,0.39401,T;T;T,-2.82;.;-2.64,0.59545,D;.;D,0.416;0.451;0.465,0.50146,-0.7948,0.55450,T,0.1641,0.50127,T,10,0.45013875;0.45013875;0.45013875,0.58646,T;T;T,0.015747,0.36654,T,0.183;.;0.183,0.45592,.;0.551;0.551;,0.66716,.;Q6ZN55;Q6ZN55;,.;D770N;D770N;,.;Loss of ubiquitination at K773 (P = 0.0432);Loss of ubiquitination at K773 (P = 0.0432);,0.253981072376;0.253981072376;0.253981072376,0.25009,0.4532004889378244;.;.,0.45238,.;1.18041734594;.,0.80001,0.775883316994,0.78307,T,.;0.166949;0.166949,0.51339,.;T;T,-0.202877,0.20389,T,-0.529195,0.19367,T,0.970573127269745,0.68998,D,0.69773;.;0.69773,0.30785,T;.;T,.;0.26021367;0.26021367,0.49076,.;0.18726437;0.18726437,0.41948,.;0.26021367;0.26021367,0.49076,.;0.18726437;0.18726437,0.41947,.;-3.898;-3.898,0.41794,.;T;T,.;.;.,,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,0.7207;0.5938;0.5403,0.73817,P;P;A,.;.;.;,.;.;.;,.;.;.;,.;.;.;,.;.;.;,.;.;.;,3.246621,0.57718,24.0,3.846550,0.76995,26.5,0.99864255701479709,0.94276,0.95321,0.64266,D,AEFBCI,,,,0.470051454079504,0.65351,4.811373,0.496943924246935,0.67786,5.131,0.999999999457247,0.74766,0.67177,0.52595,0,0.697927,0.68747,0,0.702456,0.68683,0,0.635551,0.53088,0,,,5.5,5.5,0.81386,2.990000,0.49090,11.864000,0.98398,0.676000,0.76740,1.000000,0.71638,1.000000,0.68203,0.961000,0.51904,0.0:0.0:1.0:0.0,18.151,0.89605,846,0.36215,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type,,,,ZNF574,ZNF574,ENSG00000105732,19,,FLJ22059,Q6ZN55,ZN574_HUMAN,64763,CCDS12596;CCDS82356,NM_022752;NM_001330519,uc060zev.1,,618355,zinc finger protein 574,,,,,,,FUNCTION: May be involved in transcriptional regulation.; ,,,,,,,,,,regulation of transcription by RNA polymerase II,nucleus,"DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding",,skin;stomach;testis;lens;lymphoreticular;unclassifiable (Anatomical System);choroid;larynx;kidney;uterus;retina;muscle;head and neck;urinary;islets of Langerhans;visual apparatus;tonsil;fovea centralis;spleen;cartilage;bone;brain;heart;lung;ovary;thyroid;macula lutea;lymph node;bladder;colon;placenta;prostate;breast;optic nerve;,dorsal root ganglion;atrioventricular node;testis;skeletal muscle;globus pallidus;,GOLGA6L9[unassigned1304];LHX3[unassigned1304];DCDC2B[unassigned1304];CEP70[unassigned1304];ZNF526[26496610];POU6F2[unassigned1304];LRRC73[unassigned1304];TRAF2[unassigned1304];MEOX2[unassigned1304];,APP[21832049;21244100];RPL30[28514442];CCNK[30033366];RBM25[30033366];PPAN[28514442];KIF14[30033366];NAT10[30033366];PPP2R2A[30033366];FGF3[28514442];DCAF7[30033366];RPS14[28514442];SART3[28514442];SGOL1[30033366];CAPZB[30033366];SLC39A9[30033366];PPP6R2[28514442];ZNF526[26496610];SNIP1[30033366];ARIH1[30033366];HIST1H1A[26186194;28514442];PELO[30033366];FBXO7[27503909];EIF5B[30033366];MED1[30033366];NCBP1[30033366];CEP295[30033366];TUBB[30033366];XAGE1B[28514442];H2AFX[28514442];HUS1[30033366];RPSA[26186194;28514442];NUTF2[30033366];PASK[24778252];MASTL[30033366];CIT[30033366];MRPS9[28514442];ERH[30033366];BDP1[30033366];PAFAH1B1[30033366];ANAPC13[30033366];UHRF2[27114453];DCTN2[30033366];RPL10[30033366];MRPS34[28514442];VPS4A[30033366];ZCCHC9[30033366];LTBP4[28514442];ARL2[30033366];ZC3HAV1[28514442];ATP1A1[30033366];SKA3[30033366];RNF4[29180619];CENPB[28514442];PSMB6[30033366];IFI16[25693804];TRA2B[30033366];E4F1[28514442];RPS2[26186194;28514442];GPR156[28514442];CACNG5[28514442];NTRK1[25921289];ANKRD28[28514442];TRIM41[28514442];RNGTT[30033366];NIFK[26186194;28514442];CEP152[30033366];ELP4[30033366];MEX3C[26471122];SHCBP1[28514442];IFFO1[28514442];KBTBD6[28514442];MFAP1[30033366];PRKRIR[28514442];CHMP2A[30033366];UBE2O[28514442];FAM98B[30033366];LHX4[26186194;28514442];KBTBD7[28514442];ACTR10[30033366];,APP[0.071];PANK2[NA];MLLT10[NA];STX3[NA];TMSB4X[NA];PCGF6[NA];P4HA1[NA];NLN[NA];AFF1[NA];CRYZ[NA];MCU[NA];VAMP4[NA];CDC27[NA];BRAP[NA];PSME3[NA];SLC12A9[NA];DEPDC7[NA];ZNF526[NA];PASK[0.661];HIST1H1A[0.767];NIFK[0.837];RPS2[0.489];RPSA[0.290];LHX4[0.596];NTRK1[0.226];IFI16[0.876];ZNF526[0.644];MEX3C[0.561];SHCBP1[0.004];THAP12[0.973];TRIM41[0.414];ANKRD28[0.853];IFFO1[0.260];PPP6R2[0.209];XAGE1A[0.005];ZC3HAV1[0.629];E4F1[0.620];KBTBD7[0.004];LTBP4[0.005];KBTBD6[0.004];SART3[0.618];UBE2O[0.004];RPS14[0.454];GPR156[0.011];RPL30[0.182];MRPS9[0.322];MRPS34[0.285];CENPB[0.664];CACNG5[0.021];PPAN[0.005];FGF3[0.118];H2AFX[0.724];UHRF2[0.866],0.28700,0.726806044578552,Y,0.603528638,,,-2.04,1.67,0.000796942,-0.721745383,14.8665743,0.908434997009248,0.091535212340366,2.97906503858507e-05,0.863994281925756,0.135922019029439,8.36990448048379e-05,0.970566440305452,0.0294232725041115,1.02871904364498e-05,1.0896e-01,8.9099e-01,4.9257e-05,,,,,735.35854,5.38048,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,6.87E-02,0.0,0.0,0.0,0.0,0.0275559105431309,0.0003993610223642173,0.0219648562300319,0.0,,E,E,E,0.257979511127052,N,Zfp574,,znf574,whole organism,dead,abnormal,0.48866336266033783,Unknown,tools
9,DTNB,0,,GRCh38,chr2,25455430,25455430,+,Missense_Mutation,SNP,C,C,T,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.1144G>A,p.Val382Met,p.V382M,ENST00000406818,11/21,17,9,8,33,33,0,"DTNB,missense_variant,p.Val325Met,ENST00000496972,;DTNB,missense_variant,p.Val382Met,ENST00000406818,;DTNB,missense_variant,p.Val382Met,ENST00000404103,;DTNB,missense_variant,p.Val382Met,ENST00000407661,;DTNB,missense_variant,p.Val382Met,ENST00000288642,;DTNB,missense_variant,p.Val178Met,ENST00000545439,;DTNB,intron_variant,,ENST00000407186,;DTNB,intron_variant,,ENST00000405222,;DTNB,intron_variant,,ENST00000407038,;DTNB,intron_variant,,ENST00000481841,;DTNB,intron_variant,,ENST00000486555,;DTNB,intron_variant,,ENST00000489756,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,intron_variant,,ENST00000482145,;DTNB,intron_variant,,ENST00000356599,;",T,ENSG00000138101,ENST00000406818,Transcript,missense_variant,1394,1144,382,V/M,Gtg/Atg,"COSM3839175,COSM3839176",,,-1,DTNB,HGNC,3058,protein_coding,YES,CCDS46237.1,ENSP00000384084,DTNB_HUMAN,"Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN",UPI0000129949,,deleterious(0.03),benign(0.379),11/21,,"hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204",,,,,,,,,,,"1,1",,,,,,MODERATE,,SNV,,,"1,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GGCCACATAGG,,5,V,M,rs1230449080,2,25678299,2,25531803,325;382;382;382;382,DTNB;DTNB;DTNB;DTNB;DTNB,ENSG00000138101;ENSG00000138101;ENSG00000138101;ENSG00000138101;ENSG00000138101,ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000288642,ENSP00000444463;ENSP00000384084;ENSP00000385482;ENSP00000385193;ENSP00000288642,O60941-6;O60941;O60941-4;O60941-7;E7EVB6,DTNB_HUMAN;DTNB_HUMAN;DTNB_HUMAN;DTNB_HUMAN;E7EVB6_HUMAN,c.973G>A;c.1144G>A;c.1144G>A;c.1144G>A;c.1144G>A,p.V325M;p.V382M;p.V382M;p.V382M;p.V382M,c.973G>A;c.1144G>A;c.1144G>A;c.1144G>A;c.1144G>A,p.Val325Met;p.Val382Met;p.Val382Met;p.Val382Met;p.Val382Met,c.973G>A;c.1144G>A;c.1144G>A;c.1144G>A;c.1144G>A,p.Val325Met;p.Val382Met;p.Val382Met;p.Val382Met;p.Val382Met,.;principal4;.;alternative1;alternative1,Y;Y;Y;Y;Y,2;1;5;1;2,.;YES;.;.;.,-;-;-;-;-,GTG;GTG;GTG;GTG;GTG,1;1;1;1;1,0;0;0;0;0,C,C/C,C/C,C/C,C/C,0.023;0.018;0.021;0.026;0.019,0.50676,D;D;D;D;D,0.05;0.065;0.06;0.077;0.054,0.48080,T;T;T;T;T,.;0.715;0.948;.;0.913,0.53620,.;P;P;.;P,.;0.379;0.919;.;0.701,0.65474,.;B;D;.;P,0.014147,0.28619,N,0.365585,0.782451;0.782451;0.782451;0.782451;0.782451;0.782451;1;1;1,0.81001,D;D;D;D;D;D;D;D;D,simple_aae;simple_aae;simple_aae;simple_aae;simple_aae;simple_aae;without_aae;without_aae;without_aae,V382M;V382M;V382M;V382M;V325M;V178M;.;.;.,.;2.275;2.275;2.275;.,0.64647,.;M;M;M;.,2.13;2.14;2.13;2.14;2.12,0.19726,T;T;T;T;T,-1.04;-1.04;-0.94;-1.04;-0.94,0.27259,N;N;N;N;N,0.646;0.637;0.65;0.64;0.642,0.66101,-0.2980,0.75040,T,0.2661,0.63749,T,10,0.6316012;0.6316012;0.6316012;0.6316012;0.6316012,0.68548,D;D;D;D;D,0.022158,0.45019,T,0.145;0.145;0.145;0.145;0.145,0.38592,.;0.432;0.432;0.432;0.432;,0.48171,.;O60941;O60941;O60941;O60941;,.;V382M;V382M;V382M;V382M;,.;Gain of disorder (P = 0.1219);Gain of disorder (P = 0.1219);Gain of disorder (P = 0.1219);Gain of disorder (P = 0.1219);,0.570999777189;0.570999777189;0.570999777189;0.570999777189;0.570999777189,0.56767,.;0.24374809494951993;.;.;.,0.24288,.;0.260338649392;.;.;.,0.28604,0.823536634445,0.85570,D,.;0.470815;.;.;0.078651,0.80378,.;T;.;.;T,-0.0659124,0.41977,T,-0.332455,0.41195,T,0.915407240390778,0.57242,D,0.980302;0.980302;0.980302;0.980302;0.980302,0.93285,D;D;D;D;D,.;0.116483696;.;.;.,0.27474,.;0.11119351;.;.;.,0.26819,.;0.116483696;.;.;.,0.27474,.;0.11119351;.;.;.,0.26818,-9.046;-4.347;-4.779;-10.516;.,0.90342,D;T;T;D;.,.;.;.;.;.,,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,.;.;.;.;.,0.3086;0.2505;0.2953;0.2434;0.2626,0.53656,B;B;B;B;B,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,.;.;.;.;.;,3.211151,0.56864,23.9,3.087899,0.56764,23.8,0.99894787605287827,0.96819,0.92024,0.54777,D,AEFDBI,0.688758,0.64965,D,0.464174716162389,0.65011,4.769181,0.464490144307541,0.65654,4.851004,0.9999907552732,0.74766,0.706298,0.61202,0,0.588066,0.40923,0,0.709663,0.75317,0,0.668105,0.65232,0,,,5.11,4.22,0.49153,5.414000,0.66145,7.597000,0.61435,0.599000,0.40250,1.000000,0.71638,1.000000,0.68203,1.000000,0.97212,0.0:0.8433:0.1567:0.0,13.641,0.61723,516,0.74704,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,1,152158,6.572120e-06,0,1,68038,1.469770e-05,0,0,41412,0.000000e+00,0,0,912,0.000000e+00,0,0,15284,0.000000e+00,0,0,3470,0.000000e+00,0,0,5186,0.000000e+00,0,0,10614,0.000000e+00,0,0,316,0.000000e+00,0,1,68038,1.469770e-05,0,0,4834,0.000000e+00,0,0,32886,0.000000e+00,0,1,134756,7.420820e-06,0,1,147902,6.761230e-06,0,0,80722,0.000000e+00,0,0,9086,0.000000e+00,0,0,60,0.000000e+00,0,0,4690,0.000000e+00,0,0,136,0.000000e+00,0,0,2426,0.000000e+00,0,0,5488,0.000000e+00,0,0,246,0.000000e+00,0,0,6854,0.000000e+00,0,0,3112,0.000000e+00,0,0,32450,0.000000e+00,0,0,862,0.000000e+00,0,0,14838,0.000000e+00,0,0,3386,0.000000e+00,0,0,5186,0.000000e+00,0,0,6972,0.000000e+00,0,0,310,0.000000e+00,0,1,63918,1.564500e-05,0,0,4832,0.000000e+00,0,0,41090,0.000000e+00,0,0,912,0.000000e+00,0,0,15096,0.000000e+00,0,0,3300,0.000000e+00,0,0,4952,0.000000e+00,0,0,10614,0.000000e+00,0,0,304,0.000000e+00,0,1,64810,1.542970e-05,0,0,4802,0.000000e+00,0,0,24794,0.000000e+00,0,0,112,0.000000e+00,0,0,12910,0.000000e+00,0,0,998,0.000000e+00,0,0,3744,0.000000e+00,0,0,10522,0.000000e+00,0,0,272,0.000000e+00,0,0,21046,0.000000e+00,0,0,4806,0.000000e+00,0,1,9690,1.0319917440660474E-4,0,114,0,0,86,0,0,2784,0,0,146,0,0,610,0,0,26,0,0,98,0,0,496,0,0,2898,0,0,112,0,1,14050,7.117437722419929E-5,,,,,,,,,,.;.;.;.;.,,,,DTNB,DTNB,ENSG00000138101,2,,,O60941,DTNB_HUMAN,1838,CCDS46233;CCDS46234;CCDS46235;CCDS46236;CCDS46237;CCDS58702;CCDS74496;CCDS82428,NM_001256303;NM_033147,uc002rgh.5,602415,602415,dystrobrevin beta,,,,,,,,,,,,,,"Body mass index (age <50)[26426971];Body mass index[26426971];Response to platinum-based chemotherapy (cisplatin)[21844884];Body mass index x sex x age interaction (4df test)[26426971];Intracranial aneurysm[29531279];Multiple myeloma[22120009;26007630];Body mass index (age>50)[26426971];B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy)[28112199];Multiple myeloma and monoclonal gammopathy[26007630];Height[18391951];LDL cholesterol[21347282];Heschl's gyrus morphology[25130324];",,,,cytoplasm,protein binding;zinc ion binding,"Highly expressed in brain, kidney and pancreas.;",spinal ganglion;skin;stomach;testis;unclassifiable (Anatomical System);cerebellum;kidney;uterus;retina;pancreas;head and neck;mammary gland;cervix;bone;germinal center;parathyroid;brain;blood;lung;thyroid;sympathetic chain;colon;placenta;prostate;breast;,caudate nucleus;temporal lobe;amygdala;prefrontal cortex;whole brain;skin;cingulate cortex;superior cervical ganglion;spinal cord;skeletal muscle;hypothalamus;,HEL-S-70[25416956];PPP1R13B[unassigned1304];DEUP1[unassigned1304];CEP128[26638075];SPZ1[25416956;unassigned1304];ZMYM1[25852190];KRT27[unassigned1304];NUP62[16189514;25416956;unassigned1304];PPFIA1[25416956];DAG1[unassigned1793];HMG20A[16189514;25416956;unassigned1304];TRIM27[unassigned1304];CCHCR1[unassigned1304];MB21D2[unassigned1304];CEP55[25416956;unassigned1304];TNS2[28330616];NDEL1[25416956];COG6[unassigned1304];KRT35[unassigned1304];MTUS2[25416956;unassigned1304];TRAF2[16189514;25416956;unassigned1304];TFIP11[unassigned1304];INSYN1[unassigned1304];KRT31[25416956;unassigned1304];TXLNA[25416956;unassigned1304];PRKAR1B[unassigned1304];KRT38[unassigned1304];PICK1[unassigned1304];CEP63[21516116;25416956;unassigned1304];UTRN[10545507];CCDC196[unassigned1304];TRIM54[unassigned1304];PRTFDC1[16189514];VCP[unassigned1304];TSACC[16189514];CTBP2[unassigned1304];USHBP1[25416956;unassigned1304];KRT40[25416956];BEGAIN[16189514;unassigned1304];KRT33B[unassigned1304];GGA1[25416956;unassigned1304];SNTG2[25416956;unassigned1304];CCDC85B[16189514];VPS52[unassigned1304];DMD[9395493;10545507;25416956;unassigned1304];FSD2[unassigned1304];LURAP1[unassigned1304];ABCA1[16192269];ZRANB1[unassigned1304];DTNB[25416956];DTNBP1[25416956];POU6F2[unassigned1304];ZBTB9[25416956];CCDC88B[unassigned1304];FAM167A[unassigned1304];PPFIBP2[16189514];ABI2[25416956;unassigned1304];ABI3[25416956];KRT15[unassigned1304];ABI1[unassigned1304];TRIM37[unassigned1304];AMOTL2[unassigned1304];SSBP3[unassigned1304];SPERT[unassigned1304];,CCDC101[26186194;28514442];VCP[25416956];TSACC[16189514];CPNE5[28514442];USHBP1[25416956];MLC1[19931615];TENC1[27432908;28330616];KRT40[25416956];BEGAIN[16189514];CEP128[26638075];GGA1[25416956];SPZ1[25416956];SNTG2[28514442];ZUFSP[29576527];CCDC85B[16189514];KIF5B[14600269];KIF5A[14600269];NUP62[16189514;25416956];PPFIA1[25416956];RHPN1[28514442];HMG20A[16189514;20530487;25416956];DMD[25416956;28514442];TNS3[27880917];CEP55[25416956];NDEL1[25416956];TNS1[27880917];DTNB[25416956];COG6[28514442];DTNBP1[25416956];MTUS2[25416956];CASK[25852190];TRAF2[16189514;25416956];KRT31[25416956];ZBTB9[25416956];HNRNPL[28611215];OLFM2[28514442];PPFIBP2[16189514];TXLNA[25416956];ABI2[25416956;21516116];ABI3[25416956];CEP63[25416956;21516116];GAPDH[26344197];PRTFDC1[16189514];,PRKAR1B[0.137];KRT27[0.130];GGA1[0.230];ABI2[0.118];NUP62[0.081];HMG20A[0.085];NDEL1[0.110];TXLNA[0.087];ABI3[0.091];SPZ1[0.127];CEP55[0.130];DTNBP1[0.841];KRT40[0.070];TRIM27[0.069];SNTG2[0.082];MTUS2[0.225];CTBP2[0.939];USHBP1[0.006];TRIM37[0.217];DMD[0.451];KRT31[0.076];TRAF2[0.113];PPP1R13B[0.092];VPS52[0.141];TFIP11[0.070];POU6F2[0.072];KRT15[0.078];FSD2[0.005];KRT33B[0.069];TSACC[0.520];CEP63[0.217];KRT38[0.074];PPFIBP2[0.056];BEGAIN[0.051];COG6[0.156];TXLNG[NA];WRAP73[NA];TBK1[NA];SPATA18[NA];DHX35[NA];ACTR2[NA];SPATA2[NA];C2CD3[NA];CCDC138[NA];KIAA0753[NA];GIGYF1[NA];ADSL[NA];CIP2A[NA];APC[NA];HAUS4[NA];CEP131[NA];DVL3[NA];SLC25A12[NA];CEP152[NA];SDHA[NA];LRRC49[NA];NECAP2[NA];TSNAX[NA];MPHOSPH9[NA];IFT57[NA];ODF2[NA];WASHC1[NA];VPS45[NA];CCDC22[NA];ATXN10[NA];FBF1[NA];AP2A1[NA];NEDD1[NA];DAPK3[NA];COPA[NA];MAP7D3[NA];SORBS1[NA];CEP95[NA];SRP72[NA];NARS[NA];ARPC3[NA];DVL2[NA];YTHDF1[NA];PHLDB2[NA];CSNK1E[NA];HAUS1[NA];PLEKHG1[NA];ZNF622[NA];MIB2[NA];CDC123[NA];CCSER2[NA];CCP110[NA];ZSWIM8[NA];CAMSAP3[NA];CCDC102A[NA];DYNLL1[NA];TJP2[NA];BICD2[NA];PIBF1[NA];IFT22[NA];DVL1[NA];LMO7[NA];HAUS3[NA];CCDC77[NA];SEC24B[NA];NPHP4[NA];BCR[NA];AURKA[NA];OCRL[NA];CEP128[NA];KIZ[NA];CBL[NA];CEP44[NA];ASCC2[NA];CEP85[NA];PLK1[NA];ZDBF2[NA];CTNNB1[NA];ECH1[NA];CEP350[NA];FAM199X[NA];CFAP97[NA];KIAA1671[NA];XRN1[NA];TPGS1[NA];C1orf198[NA];KBTBD6[NA];NRBF2[NA];CPVL[NA];ARHGAP21[NA];PRKACA[NA];TMED2[NA];ECD[NA];WDR83[NA];TNRC6B[NA];NDUFA5[NA];CEP135[NA];DLG5[NA];PDCL[NA];MED4[NA];CCNB1[NA];WASHC2A[NA];CEP63[NA];PPP1R13B[NA];TRIM56[NA];NDUFS8[NA];TJP1[NA];LZTS2[NA];UNC45A[NA];CEP170B[NA];TP53[NA];DCLK1[NA];CEP162[NA];CNTRL[NA];AP2B1[NA];POLR2A[NA];SIPA1L1[NA];CNTROB[NA];HAUS6[NA];CEP120[NA];CEP192[NA];STXBP4[NA];AMOT[NA];FAM83B[NA];ODF2L[NA];FERMT2[NA];PPP2R3C[NA];CEP72[NA];NUP205[NA];CSPP1[NA];HTATSF1[NA];NME7[NA];JUP[NA];TRIP6[NA];RASAL2[NA];NPHP1[NA];CASK[NA];LRRC47[NA];SMG7[NA];CEP290[NA];TBC1D31[NA];WASHC3[NA];HAUS7[NA];TANC1[NA];EIF4ENIF1[NA];CDK5[NA];NCKAP1[NA];NFATC3[NA];IFT81[NA];AGTPBP1[NA];SPICE1[NA];CKAP5[NA];NDE1[NA];TRIM26[NA];PEF1[NA];IPO11[NA];LZTS3[NA];PKN2[NA];CCDC14[NA];TXLNA[NA];PROSER3[NA];TTLL5[NA];NIN[NA];DSP[NA];HAUS2[NA];TP53BP2[NA];BMI1[NA];IPO8[NA];SIPA1L2[NA];LUZP1[NA];CEP85L[NA];MB21D2[NA];CCNB2[NA];WASHC2C[NA];IFT46[NA];ARFGAP3[NA];TRIM9[NA];ANKRD26[NA];EXOC4[NA];SLAIN2[NA];AP2S1[NA];CYLD[NA];SPATA24[NA];MIB1[NA];CCDC66[NA];NAV1[NA];IBTK[NA];CEP170[NA];CRK[NA];WASHC5[NA];ABLIM1[NA];SCLT1[NA];CAMSAP1[NA];LTV1[NA];SPATA2L[NA];PM20D2[NA];ALMS1[NA];TEX9[NA];HAUS8[NA];CCDC112[NA];TTK[NA];CAMSAP2[NA];PCBP3[NA];CSNK1D[NA];NCKAP5L[NA];IFT74[NA];TRIM41[NA];IQCB1[NA];RAD50[NA];KIF14[NA];USP54[NA];DDX47[NA];CSNK1A1[NA];CCDC18[NA];NDEL1[NA];ASCC3[NA];NINL[NA];FOPNL[NA];ERC1[NA];CTNNAL1[NA];CEP55[NA];GID8[NA];CEP89[NA];CC2D1A[NA];MPP5[NA];BICD1[NA];OFD1[NA];CEP164[NA];TCHP[NA];ANKRD28[NA];TANK[NA];NEBL[NA];RPGRIP1L[NA];PDZD11[NA];TTF2[NA];CEP97[NA];SRSF2[NA];PALLD[NA];STK3[NA];TRIM37[NA];ERLIN2[NA];HAUS5[NA];FGFR1OP[NA];DBT[NA];SH3GLB1[NA];KIF7[NA];GNB1[NA];CDC20[NA];GPATCH1[NA];WASHC4[NA];SSX2IP[NA];PICK1[0.928];ZRANB1[0.108];CCDC85B[0.149];SPERT[0.506];AMOTL2[0.005];ABI1[0.449];PPFIA1[0.519];SNTB2[NA];SNTA1[NA];ABCA1[NA];SNTB1[NA];UTRN[NA];PRTFDC1[0.202];CCDC88B[0.513];KRT35[0.073];ZBTB9[0.093];LURAP1[0.512];VCP[0.149];TRIM54[0.132];EEF2[NA];ABLIM1[NA];LIN7C[NA];ARHGEF26[NA];DLG1[NA];SNTB2[NA];ZMYM1[NA];UTRN[0.910];PGAM5[NA];TNS2[NA];KLHL15[NA];EIF5A[NA];CSK[NA];YWHAB[NA];SNTB2[NA];UTRN[NA];CCHCR1[0.199];SNTG1[0.076];KIF5A[0.131];DMD[NA];DTNA[NA];DTNA[NA];MAGEE1[NA];SNTA1[NA];KIF5B[0.063];MLC1[0.123];CASK[0.045];SGF29[0.046];GAPDH[0.144];CEP128[0.157];TNS1[0.063];TNS3[0.008];CPNE5[0.012];RHPN1[0.057];OLFM2[0.005];TNS2[0.009];ABCA1[0.069];NIT1[0.210];ACTN2[0.089],0.59206,0.414402037858963,N,0.567792935,0.49987,,-0.8,12.46,0.003925993,-0.291854927,31.62460093,0.000530412146332964,0.999218121720225,0.000251466133441806,0.141605886601148,0.85836018935515,3.392404370154e-05,0.00505617646293858,0.994652985447591,0.000290838089470409,1.0026e-05,9.8662e-01,1.3365e-02,-1.59240263676422,0.112020536122102,-0.620168561015523,N,225.44054,3.24713,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,,0.0,0.0,0.0,0.0,0.0219648562300319,0.0003993610223642173,0.0163738019169329,0.0003993610223642173,N,N,N,N,0.478434940235949,N,Dtnb,"nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); ",,,,,0.2790364142007767,Unknown,"frequencies, tools"
10,OTOR,0,,GRCh38,chr20,16749936,16749936,+,Missense_Mutation,SNP,G,G,A,rs776130394,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,G,G,,,,,,,,,,,,,,,,c.289G>A,p.Val97Met,p.V97M,ENST00000246081,3/4,44,35,8,54,54,0,"OTOR,missense_variant,p.Val97Met,ENST00000246081,;OTOR,non_coding_transcript_exon_variant,,ENST00000486129,;OTOR,intron_variant,,ENST00000490148,;",A,ENSG00000125879,ENST00000246081,Transcript,missense_variant,333,289,97,V/M,Gtg/Atg,"rs776130394,COSM1410526",,,1,OTOR,HGNC,8517,protein_coding,YES,CCDS13124.1,ENSP00000246081,OTOR_HUMAN,,UPI0000047809,,deleterious(0),benign(0.344),3/4,,"hmmpanther:PTHR23158,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044",,,,,,,,,,,"0,1",,,,,,MODERATE,,SNV,,,"0,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GAGTCGTGGGT,byFrequency,5,V,M,rs776130394,20,16730581,20,16678581,97,OTOR,ENSG00000125879,ENST00000246081,ENSP00000246081,Q9NRC9,OTOR_HUMAN,c.289G>A,p.V97M,c.289G>A,p.Val97Met,c.289G>A,p.Val97Met,principal1,Y,1,YES,+,GTG,1,0,G,G/G,G/G,G/G,G/G,0.028,0.46129,D,0.053,0.47336,T,0.999,0.77913,D,0.961,0.70482,D,0.000026,0.55875,D,0.121377,0.996772,0.43409,D,simple_aae,V97M,2.455,0.71248,M,-1.52,0.81478,D,-0.05,0.07736,N,0.358,0.39962,0.3747,0.88717,D,0.6585,0.88129,D,10,0.5124595,0.62176,D,0.054854,0.66014,D,0.400,0.71401,0.421;,0.46365,Q9NRC9;,V97M;,Gain of disorder (P = 0.0994);,0.713835922619,0.71132,0.4040379509879519,0.40319,0.096684890944,0.10917,0.490941464901,0.37568,T,0.051511,0.28899,T,-0.107127,0.35243,T,-0.165955,0.57812,T,0.726159632205963,0.42012,D,0.848715,0.53056,T,0.054208487,0.10369,0.097391345,0.23179,0.054208487,0.10369,0.097391345,0.23179,-3.903,0.41911,T,,,,,,,,,,,,,,0.2151,0.44436,B,.;,.;,.;,.;,.;,.;,3.511692,0.64397,24.7,3.627353,0.70445,25.5,0.99887761184686863,0.96281,0.76641,0.37604,D,AEFBHCI,0.158383,0.28403,N,0.594694349199728,0.72841,5.86989,0.527204053424829,0.69826,5.416236,0.544972145332959,0.21285,0.525926,0.21836,0,0.615948,0.52940,0,0.600433,0.31921,0,0.584449,0.35598,0,,,5.78,4.83,0.61880,2.861000,0.48079,5.052000,0.47007,0.676000,0.76740,0.998000,0.41325,1.000000,0.68203,0.572000,0.30699,0.0772:0.0:0.9228:0.0,12.5413,0.55520,967,0.07127,,,,,,,,,,,,,,,,,,,,,,,2,1.647e-05,2,1.663e-05,0,0,0,0,0,0,0,0,2,3.016e-05,0,0,2,1.883e-05,2,1.902e-05,0,0,0,0,0,0,0,0,2,3.705e-05,0,0,,,,,,,,,,,,,,,,,,4,251142,1.592720e-05,0,0,16254,0.000000e+00,0,0,34524,0.000000e+00,0,0,10076,0.000000e+00,0,2,18344,1.090270e-04,0,0,21630,0.000000e+00,0,2,113588,1.760750e-05,0,0,30602,0.000000e+00,0,2,18344,1.090270e-04,0,3,109310,2.744490e-05,0,3,207898,1.443020e-05,0,4,236612,1.690530e-05,0,4,244526,1.635820e-05,0,0,7164,0.000000e+00,0,0,17086,0.000000e+00,0,0,2320,0.000000e+00,0,1,9020,1.108650e-04,0,0,13390,0.000000e+00,0,2,42732,4.680330e-05,0,0,15686,0.000000e+00,0,1,9020,1.108650e-04,0,0,16216,0.000000e+00,0,0,30458,0.000000e+00,0,0,6210,0.000000e+00,0,2,13366,1.496330e-04,0,0,16718,0.000000e+00,0,1,89484,1.117520e-05,0,0,30594,0.000000e+00,0,2,13366,1.496330e-04,0,0,14900,0.000000e+00,0,0,34194,0.000000e+00,0,0,9568,0.000000e+00,0,2,17642,1.133660e-04,0,0,21614,0.000000e+00,0,2,102578,1.949740e-05,0,0,30512,0.000000e+00,0,2,17642,1.133660e-04,0,0,12024,0.000000e+00,0,0,34392,0.000000e+00,0,0,9994,0.000000e+00,0,2,18340,1.090510e-04,0,0,21628,0.000000e+00,0,2,111498,1.793750e-05,0,0,30602,0.000000e+00,0,2,18340,1.090510e-04,0,,1,152156,6.572200e-06,0,1,41444,2.412890e-05,0,1,41444,2.412890e-05,0,0,912,0.000000e+00,0,0,15268,0.000000e+00,0,0,3464,0.000000e+00,0,0,5184,0.000000e+00,0,0,10610,0.000000e+00,0,0,316,0.000000e+00,0,0,68040,0.000000e+00,0,0,4826,0.000000e+00,0,0,32878,0.000000e+00,0,1,134746,7.421370e-06,0,1,147908,6.760960e-06,0,1,80716,1.238910e-05,0,0,9092,0.000000e+00,0,0,60,0.000000e+00,0,0,4684,0.000000e+00,0,0,136,0.000000e+00,0,0,2428,0.000000e+00,0,0,5480,0.000000e+00,0,0,246,0.000000e+00,0,0,6854,0.000000e+00,0,0,3108,0.000000e+00,0,1,32478,3.079010e-05,0,0,862,0.000000e+00,0,0,14822,0.000000e+00,0,0,3380,0.000000e+00,0,0,5184,0.000000e+00,0,0,6968,0.000000e+00,0,0,310,0.000000e+00,0,0,63916,0.000000e+00,0,0,4824,0.000000e+00,0,1,41122,2.431790e-05,0,0,912,0.000000e+00,0,0,15080,0.000000e+00,0,0,3300,0.000000e+00,0,0,4950,0.000000e+00,0,0,10610,0.000000e+00,0,0,304,0.000000e+00,0,0,64814,0.000000e+00,0,0,4794,0.000000e+00,0,1,24820,4.029010e-05,0,0,112,0.000000e+00,0,0,12894,0.000000e+00,0,0,992,0.000000e+00,0,0,3742,0.000000e+00,0,0,10518,0.000000e+00,0,0,272,0.000000e+00,0,0,21050,0.000000e+00,0,0,4798,0.000000e+00,0,0,9690,0,0,114,0,0,86,0,0,2784,0,0,146,0,0,610,0,0,26,0,0,98,0,0,496,0,0,2898,0,0,112,0,0,14050,0,,,,,,,,,,"SH3 domain|SH3 domain|SH3 domain|Otoraplin, SH3 domain",,,,OTOR,OTOR,ENSG00000125879,20,,MIAL;MIAL1;FDP,Q9NRC9,OTOR_HUMAN,56914,CCDS13124,NM_020157,uc002wpj.5,606067,606067,otoraplin,,,,,,,,,,,,,,Response to fenofibrate (triglyceride levels)[27002377];Loneliness[27629369];Post-traumatic stress disorder (asjusted for relatedness)[23726511];,,,cartilage condensation;sensory perception of sound,extracellular region,,Highly expressed in cochlea.;,cochlea;brain;,ciliary ganglion;superior cervical ganglion;atrioventricular node;,FAM209A[unassigned1304];,,,0.18164,0.32538053393364,N,,0.12811,,0.39,75.87,0.695887,0.267512286,67.39353051,0.0148213358106119,0.685546432499258,0.29963223169013,0.0130529114186531,0.659899644271052,0.327047444310295,0.0787712098563983,0.730022220092286,0.191206570051315,4.1972e-03,6.7330e-01,3.2250e-01,0.596175583886263,-0.799596921667598,-0.381052636327703,N,2536.79409,9.40108,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,4.86E-01,0.0,0.0,0.0,0.0,0.0051916932907348,0.0,0.0051916932907348,0.0,,N,N,N,0.184878305724782,N,Otor,,,,,,0.009088494730510233,Tumour Suppressor,"frequencies, tools"
11,IGLV2-23,0,,GRCh38,chr22,22697994,22697994,+,Missense_Mutation,SNP,C,C,G,novel,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.44C>G,p.Thr15Arg,p.T15R,ENST00000390306,1/2,25,12,13,23,23,0,"IGLV2-23,missense_variant,p.Thr15Arg,ENST00000390306,;D86994.1,non_coding_transcript_exon_variant,,ENST00000385095,;LL22NC03-102D1.18,upstream_gene_variant,,ENST00000438185,;IGLVVI-22-1,upstream_gene_variant,,ENST00000521183,;IGLV3-24,downstream_gene_variant,,ENST00000517477,;",G,ENSG00000211660,ENST00000390306,Transcript,missense_variant,206,44,15,T/R,aCa/aGa,,,,1,IGLV2-23,HGNC,5890,IG_V_gene,YES,,ENSP00000374841,,,UPI000173A2CA,,deleterious_low_confidence(0),probably_damaging(0.926),1/2,,"Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267:SF138,hmmpanther:PTHR23267",,,,,,,,,,,,,,,,,MODERATE,,SNV,,,,,,,,,,,,,,PASS,NONE,RADIA|MUTECT|MUSE,GGACACAGGTG,,3,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,IGLV2-23,IGLV2-23,ENSG00000211660,22,,,P01705,LV223_HUMAN,28813,,NG_000002,uc062cct.1,,618355,immunoglobulin lambda variable 2-23,,,,Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;B cell receptor signaling;Signaling by the B Cell Receptor (BCR);FCGR activation;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;CD22 mediated BCR regulation;Initial triggering of complement;Classical antibody-mediated complement activation;Cell surface interactions at the vascular wall;Hemostasis;Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Creation of C4 and C2 activators;Complement cascade;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization,,,"FUNCTION: V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414, ECO:0000303|PubMed:24600447}.; ",,,,,,,,,,"immunoglobulin production;proteolysis;receptor-mediated endocytosis;immune response;complement activation;complement activation, classical pathway;regulation of complement activation;Fc-epsilon receptor signaling pathway;Fc-gamma receptor signaling pathway involved in phagocytosis;regulation of immune response;leukocyte migration",extracellular region;extracellular space;plasma membrane,antigen binding;serine-type endopeptidase activity,,,,,,,,,,0.394797891,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,,,,,,,,,,,,,,Unknown,no info
12,CADM2,0,,GRCh38,chr3,85883322,85883322,+,Silent,SNP,C,C,T,rs747906551,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.249C>T,p.%3D,p.R83R,ENST00000405615,3/10,41,20,21,54,54,0,"CADM2,synonymous_variant,p.%3D,ENST00000407528,;CADM2,synonymous_variant,p.%3D,ENST00000383699,;CADM2,synonymous_variant,p.%3D,ENST00000405615,;",T,ENSG00000175161,ENST00000405615,Transcript,synonymous_variant,249,249,83,R,cgC/cgT,"rs747906551,COSM1178952,COSM1178953",,,1,CADM2,HGNC,29849,protein_coding,YES,CCDS33792.1,ENSP00000384193,CADM2_HUMAN,G3XHN8_HUMAN,UPI000013F077,,,,3/10,,"PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726",,,,,,,,,,,"0,1,1",,,,,,LOW,,SNV,,,"0,1,1",,,,,,,,,,,PASS,"SITE|p.R90R|c.270C>T|3,SITE|p.R83R|c.249C>T|3",MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GTTCGCGCTTC,,5,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,CADM2,CADM2,ENSG00000175161,3,IGSF4D,NECL3;Necl-3;SynCAM2,Q8N3J6,CADM2_HUMAN,253559,CCDS33792;CCDS54613;CCDS54614,NM_153184;NM_001167674,uc003dql.4,609938,609938,cell adhesion molecule 2,,,,Type 2 papillary renal cell carcinoma;Cell-cell junction organization;Adherens junctions interactions;Cell junction organization;Cell-Cell communication,,,"FUNCTION: Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes. {ECO:0000269|PubMed:17967169}.; ",,,,,,,Glaucoma[30054594];Strenuous sports or other exercises[29899525];Body mass index (joint analysis main effects and smoking interaction)[28443625;28443625];Vigorous physical activity[29899525];Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count)[30166627];Menarche (age at onset)[27182965];Photic sneeze reflex[27182965];Moderate to vigorous physical activity levels[29899525];Alcohol consumption[28937693;28937693;28937693];Glaucoma (primary open-angle)[29891935];Body mass index[20935630;28448500;28448500;28448500;28448500;25673413;25673413;25673413;25673413;28892062];Manganese levels[26025379];Alzheimer's disease in APOE e4+ carriers[25778476];Intelligence (MTAG)[29326435;29326435];Cannabis use[30150663;30150663;30150663];Hip circumference[25673412;25673412];Subcutaneous adipose tissue[22589738;22589738];Lead levels in blood[25820613];BMI (adjusted for smoking behaviour)[28443625;28443625];Visceral fat[22589738];Obesity[23563607];Self-reported risk-taking behaviour[29391395;30181555];Longevity (90 years and older)[25199915];Temperament[22832960];General cognitive ability[29844566;29844566;29844566;29844566];Body mass index (joint analysis main effects and physical activity interaction)[28448500;28448500;28448500];Educational attainment[27046643;27046643];BMI in non-smokers[28443625];Waist circumference[25673412;25673412;25673412];Body mass index in physically active individuals[28448500;28448500];Alcohol consumption in current drinkers[28937693];Post bronchodilator FEV1/FVC ratio[26634245;26634245;26634245;26634245;26634245;26634245];Information processing speed[25869804];Cognitive function[25644384];Post bronchodilator FEV1[26634245;26634245;26634245;26634245;26634245;26634245;26634245;26634245;26634245;26634245];Intraocular pressure[29617998;29617998];,,,cell adhesion;adherens junction organization,plasma membrane;integral component of membrane;cell junction;axon;synapse,,,,,MYO1B[30021884];,NUFIP1[26186194];,NUFIP1[0.017],0.51798,0.782939255237579,Y,0.64585767,0.11638,,-0.6,17.75,0.00078797,-0.816232116,12.4932233,0.984668909563275,0.0153294023945765,1.68804214797314e-06,0.975700578006801,0.0242941820476224,5.2399455768368e-06,0.974056885817001,0.0259355877829027,7.52640009592517e-06,9.0066e-01,9.9331e-02,6.7637e-06,0.647942887216281,-0.0859287739276253,0.223565454275604,N,430.67561,4.33088,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,2.01E-01,0.0,0.0,0.0,0.0,0.0123801916932907,0.0,0.0063897763578274,0.0,,N,N,N,0.39363045554584,N,Cadm2,,,,,,,Unknown,no info
13,MYB,0,,GRCh38,chr6,135185905,135185906,+,Frame_Shift_Ins,INS,-,-,A,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,-,-,,,,,,,,,,,,,,,,c.27dupA,p.Tyr10IlefsTer2,p.Y10Ifs*2,ENST00000341911,2/16,42,35,7,47,47,0,"MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533624,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000527615,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525369,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000442647,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528774,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000534044,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000534121,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000316528,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000367814,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000420123,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000341911,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533384,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526320,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525514,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000367812,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000339290,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526187,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000529262,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525002,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526565,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528343,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000529586,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000438901,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533837,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000463282,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525477,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000524588,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533808,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528140,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525940,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528345,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000531519,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528015,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526889,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000531634,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000531737,;",A,ENSG00000118513,ENST00000341911,Transcript,frameshift_variant,225-226,26-27,9,I/IX,ata/atAa,"COSM1487247,COSM1487248",,,1,MYB,HGNC,7545,protein_coding,YES,CCDS47481.1,ENSP00000339992,MYB_HUMAN,Q9UMI7_HUMAN,UPI000002AE9A,,,,2/16,,"hmmpanther:PTHR10641:SF454,hmmpanther:PTHR10641",,,,,,,,,,,"1,1",,,,,,HIGH,,insertion,,1,"1,1",,,,,,,,,,,PASS,NONE,VARSCANI*|PINDEL,CAGCATATATA,,2,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,MYB,MYB,ENSG00000118513,6,,c-myb,P10242,MYB_HUMAN,4602,CCDS5174;CCDS47481;CCDS47482;CCDS55058;CCDS55059;CCDS55060;CCDS55061;CCDS55062,NM_001130172,uc063rpp.1,189990,189990,"MYB proto-oncogene, transcription factor",,,,PI3K-Akt signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;Neural Crest Differentiation;Hematopoietic Stem Cell Differentiation;EV release from cardiac cells and their functional effects;Pathways Affected in Adenoid Cystic Carcinoma;Transcriptional regulation by RUNX1;PI3K-Akt Signaling Pathway;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;Prolactin;Factors involved in megakaryocyte development and platelet production;RNA Polymerase II Transcription;Hemostasis;Signaling by Nuclear Receptors;C-MYB transcription factor network;Estrogen-dependent gene expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;ESR-mediated signaling;Notch-mediated HES/HEY network;Transcriptional regulation by RUNX1;AP-1 transcription factor network;IL2 signaling events mediated by PI3K;IL4-mediated signaling events,,,FUNCTION: Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells.; ,,,,251671;86849;99861,Angiocentric glioma;Acute basophilic leukemia;Precursor T-cell acute lymphoblastic leukemia,Part of a fusion gene in;Part of a fusion gene in;Part of a fusion gene in,Multiple sclerosis[21833088];Mean corpuscular hemoglobin concentration[20139978;23263863;29403010];Mean corpuscular hemoglobin[19862010;20139978;23263863;23263863;28548082;28453575;29403010];Mean corpuscular volume[19862010;20139978;23263863;23263863;28453575;29403010];Hematological parameters[19820697];Hematocrit[19862010;29403010];Basophil percentage of white cells[27863252];Eosinophil counts[29403010];Hemoglobin A1c levels[29403010];Basophil percentage of granulocytes[27863252];Mean platelet volume[22423221];Red blood cell traits[20927387;20927387;20927387;20927387;20927387;20927387;23935956;23935956];White blood cell types[21738478];Hemoglobin[29403010];Aspartate aminotransferase levels[29403010];Obesity-related traits[23251661];Hematological and biochemical traits[20139978];Platelet count[24026423;22139419;20139978;26805783;26805783;29066854;29403010];Beta thalassemia/hemoglobin E disease[20183929];Hodgkin's lymphoma[24149102];Hematology traits[19853236;19853236;19853236;23263863];White blood cell count (basophil)[27863252];Glycated hemoglobin levels[24647736;28898252];HbA2 levels[23043469];Myeloproliferative neoplasms[25849990];Red blood cell count[20139978;28453575;29403010];Other erythrocyte phenotypes[19862010;19862010];White blood cell count[20139978;29403010];Hemoglobin levels[26366553;26366553];Fetal hemoglobin levels in sickle cell anemia[25372704];,,,"negative regulation of transcription by RNA polymerase II;mitotic cell cycle;response to hypoxia;chromatin remodeling;regulation of transcription, DNA-templated;positive regulation of collagen biosynthetic process;positive regulation of neuron apoptotic process;positive regulation of T-helper cell differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of smooth muscle cell proliferation;positive regulation of histone H3-K4 methylation;positive regulation of histone H3-K9 methylation;positive regulation of glial cell proliferation;cellular response to hydrogen peroxide;cellular response to retinoic acid;positive regulation of transforming growth factor beta production;regulation of hematopoietic stem cell differentiation;positive regulation of hepatic stellate cell proliferation;positive regulation of hepatic stellate cell activation;positive regulation of testosterone secretion",nucleoplasm;nuclear matrix,"RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;protein binding",,fovea centralis;spleen;liver;endometrium;stomach;testis;lens;blood;unclassifiable (Anatomical System);heart;bone marrow;lung;choroid;retina;macula lutea;lymph node;colon;bile duct;prostate;mammary gland;breast;optic nerve;visual apparatus;,subthalamic nucleus;dorsal root ganglion;skin;superior cervical ganglion;bone marrow;,KMT2E[20195357];BEX3[20195357];COX7B[20195357];SDC2[20195357];CLTC[18548008];ADAM22[20195357];CLTA[18548008];LIN9[18548008];PPM1K[21988832];NLK[15082531];PCDH17[20195357];PTMS[20195357];CCND3[21988832];SUMO1[20802522];SUMO2[20802522];FLNA[18548008];NCAM2[20195357];ERC2[20195357];SPTAN1[18548008];MYOZ2[21988832];PAIP1[unassigned1304];UPF2[20195357];CREBBP[16799563];SETD1A[20195357];ZFC3H1[20195357];NBPF14[20195357];PML[20802522];HIPK2[15082531];PIAS1[21338522];MAPK11[14676314];NCOR1[20195357];KIF2A[20195357];TAL1[25394790];FBXL5[20195357];,RPL4[20604807];ASH2L[20093773];CHD3[17344210];CCND3[21988832];TRIM28[14761981];KAT5[22110127];SUMO1[20802522];SIN3A[14761981];SUMO2[20802522];WDR5[20093773];EP300[11585920;20364308;15691758;10656693;25740244];ERC2[20195357];MYOZ2[21988832];MEN1[20093773];UPF2[20195357];FBXW5[22910413];PARP1[18945670];FBXW7[18765672;21092141];PAX5[11781241];SND1[8756344];PIAS1[21338522;27032383];RBX1[18765672];DDB1[22910413];KAT2B[20364308];KAT2A[10656693];MAF[9566892];NCOR1[14761981];NCL[10660576];TRAF6[18093978;27150054];ZMYND11[11244510];CEBPB[11792321];SP100[20211142];HLF[20211142];KMT2A[20093773];CEBPE[10233885];LEF1[21795403];GATA3[22039304];PPM1K[21988832];NLK[16055500;15082531];RBBP5[20093773];STAT5A[19036881];HSPA8[23333597];CREBBP[12196545;11423988;16055500;11073948;14761981;16799563;23980173];UBE2I[11779867;22910413;27150054];SMARCA2[10619021];PML[15194430];HIPK2[16055500;15082531];SKI[14761981];CUL4A[22910413];,SIN3A[NA];TP53[NA];POLR2J[NA];POLR2G[NA];POLR2C[NA];POLR2K[NA];POLR2L[NA];POLR2I[NA];POLR2H[NA];POLR2A[NA];GTF2F1[NA];POLR2B[NA];GTF2F2[NA];POLR2D[NA];POLR2E[NA];POLR2F[NA];CREBBP[0.999];GATA1[0.999];HES1[0.976];SND1[NA];PIM1[NA];TRIM28[NA];SIN3A[NA];SKI[NA];NCOR1[NA];LEF1[NA];PAX5[NA];MAF[0.998];PPID[0.789];CCND1[NA];CDK6[NA];STAT5A[0.998];IRF2[0.997];IL4[0.288];BIRC5[0.917];LEF1[0.997];EGR1[0.998];IRF1[0.999];PIN1[0.988];BCL2[0.954];TRAF6[0.708];UPF2[0.910];HIPK2[0.999];CLTC[NA];SPTAN1[NA];FLNA[NA];SUMO1[0.984];PAIP1[0.094];TAL1[0.999];PCDH17[0.012];CCND3[0.936];KMT2E[0.999];KIF2A[0.942];SUMO2[0.978];CLTC[NA];FLNA[NA];SETD1A[0.998];ZFC3H1[0.088];PTMS[0.722];ADAM22[0.005];NCAM2[0.012];FBXL5[0.098];PIAS1[0.999];NCOR1[0.999];ERC2[0.034];BEX3[0.777];COX7B[0.477];SP1[NA];MAPK11[NA];KRT1[NA];MTREX[NA];NBPF14[0.069];SDC2[0.031];CLTC[0.590];LIN9[0.998];PPM1K[0.950];NLK[0.991];CLTA[NA];SPTAN1[NA];FLNA[NA];CLTC[NA];MYOZ2[0.661];BTRC[0.958];CNOT9[0.704];PML[0.996];FBXW5[0.094];FBXW2[0.089];CSNK2A1[0.992];CEBPB[1];UBE2I[0.999];CEBPE[0.976];SND1[0.973];EP300[0.999];TTF2[0.994];MYBBP1A[0.972];NCL[0.997];MAPK1[0.939];PAX5[0.998];FBXW7[0.995];ZFHX3[0.998];SKP2[0.975];SMARCA2[0.999];ZMYND11[0.904];KMT2A[0.999];WDR5[0.999];RBBP5[0.999];ASH2L[0.999];MEN1[0.995];HLF[0.971];SP100[0.999];PARP1[0.999];TRIM28[0.999];SKI[0.999];SIN3A[0.999];CHD3[0.983];KAT2B[0.999];RPL4[0.923];KAT5[0.999];GATA3[0.999];DDB1[0.908];CUL4A[0.096];RBX1[0.443];KAT2A[0.999];HSPA8[0.850];MAPK11[0.976];CSNK2A2[0.988],0.93168,0.756173670291901,Y,0.479650941,0.77718,,0.09,60.57,0.000744607,-0.609416147,18.00493946,0.88184751057148,0.118152009810623,4.79617896487538e-07,0.944288465688661,0.0557111907715175,3.43539821808209e-07,0.733606758323782,0.266387722657864,5.51901835350683e-06,9.5030e-01,4.9704e-02,1.9438e-09,0.389559790115154,0.801973517806529,0.788202289069363,N,208.30192,3.11503,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,7.53E-01,0.0003993610223642173,0.0,0.0003993610223642173,0.0,0.0271565495207667,0.0003993610223642173,0.0099840255591054,0.0003993610223642173,E,E,N,K,0.188920437816436,N,Myb,"mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); embryo phenotype; liver/biliary system phenotype; immune system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; ",myb,lymphoid progenitor cell,decreased amount,abnormal,,Unknown,no info
14,ZNF777,0,,GRCh38,chr7,149432152,149432152,+,Missense_Mutation,SNP,G,G,A,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,G,G,,,,,,,,,,,,,,,,c.2120C>T,p.Ser707Leu,p.S707L,ENST00000247930,6/6,29,22,7,19,19,0,"ZNF777,missense_variant,p.Ser707Leu,ENST00000247930,;",A,ENSG00000196453,ENST00000247930,Transcript,missense_variant,2444,2120,707,S/L,tCg/tTg,COSM3832243,,,-1,ZNF777,HGNC,22213,protein_coding,YES,CCDS43675.1,ENSP00000247930,ZN777_HUMAN,Q3KR11_HUMAN,UPI0000E9B152,,tolerated(0.13),probably_damaging(0.999),6/6,,"PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF204,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667",,,,,,,,,,,1,,,,,,MODERATE,,SNV,,,1,,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,GGTGCGAGGGG,,5,S,L,,7,149129243,7,148760176,707,ZNF777,ENSG00000196453,ENST00000247930,ENSP00000247930,Q9ULD5-2,ZN777_HUMAN,c.2120C>T,p.S707L,c.2120C>T,p.Ser707Leu,c.2120C>T,p.Ser707Leu,principal1,Y,1,YES,-,TCG,2,0,G,G/G,G/G,G/G,G/G,0.009,0.57480,D,0.029,0.54541,D,0.998,0.73220,D,0.986,0.76916,D,0.116836,0.19178,N,0.380691,0.510402,0.31814,D,simple_aae,S707L,2.16,0.60381,M,2.26,0.17596,T,-3.04,0.62863,D,0.408,0.44857,-0.7472,0.58081,T,0.1245,0.42862,T,10,0.4817683,0.60473,T,0.025853,0.48797,D,0.237,0.54074,0.665;,0.80300,ENST00000247930;,S707L;,Loss of phosphorylation at S707 (P = 0.0384);,0.285775778912,0.28195,0.7673327266182777,0.76682,2.6492091948,0.98449,0.808716475964,0.83295,D,,,,-0.0892863,0.38194,T,-0.36603,0.37354,T,0.950078070163727,0.63255,D,0.935006,0.75597,D,,,,,,,,,,,,,,,,,,,,,,,,,0.9598,0.88033,P,.;,.;,.;,.;,.;,.;,3.303310,0.59107,24.1,3.233574,0.60346,24.2,0.99841786530598797,0.92229,0.82696,0.41889,D,AEFDBCI,0.375146,0.45979,N,0.490514047299537,0.66534,4.962664,0.407429010971399,0.62027,4.411503,0.999893894244764,0.45129,0.67177,0.52595,0,0.702456,0.74545,0,0.570548,0.19454,0,0.635551,0.53088,0,,,4.52,4.52,0.54797,1.988000,0.40319,8.581000,0.77646,0.614000,0.49286,0.589000,0.27658,1.000000,0.68203,0.886000,0.42526,0.0:0.0:1.0:0.0,14.7565,0.69189,934,0.15400,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,ZNF777,ZNF777,ENSG00000196453,7,,KIAA1285,Q9ULD5,ZN777_HUMAN,27153,CCDS43675,NM_015694,uc003wfv.4,,618355,zinc finger protein 777,,,,Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription,,,FUNCTION: May be involved in transcriptional regulation.; ,,,,,,,,,,regulation of transcription by RNA polymerase II;biological_process,cellular_component;nucleus,"DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;metal ion binding",,thymus;skin;stomach;testis;pituitary gland;lens;unclassifiable (Anatomical System);choroid;kidney;uterus;whole body;retina;pancreas;mammary gland;islets of Langerhans;fovea centralis;hippocampus;liver;endometrium;germinal center;parathyroid;brain;blood;heart;lung;ovary;macula lutea;frontal lobe;colon;placenta;prostate;optic nerve;,atrioventricular node;,FAM9B[unassigned1304];KRTAP10-9[unassigned1304];KIAA0753[unassigned1304];CEP70[unassigned1304];TFIP11[unassigned1304];FSD2[unassigned1304];IL16[unassigned1304];CLK3[unassigned1304];,ERP44[28514442];VTN[28514442];ZBTB48[28514442];DGCR8[28514442];RPSA[26186194;28514442];ZC3HAV1[28514442];RBM34[28514442];WDR46[28514442];ZNF212[28514442];ZNF398[28514442];,FSD2[0.004];CEP70[0.004];KRTAP10-9[0.004];CLK3[0.004];FAM9B[0.004];TFIP11[0.004];KIAA0753[0.004];RPSA[0.013];ZC3HAV1[0.004];ZNF398[0.012];ERP44[0.004];VTN[0.004];ZNF212[0.016];ZBTB48[0.005];WDR46[0.019];RBM34[0.004];DGCR8[0.011],0.53172,0.622059047222137,Y,0.56235191,,,-0.02,52.32,0.000414019,-0.719392717,14.94488284,0.997614409900424,0.00238550196822947,8.81313464006682e-08,0.996135062505999,0.00386465202128699,2.85472713426426e-07,0.995990111054511,0.00400950732817066,3.81617318016886e-07,9.9999e-01,1.2683e-05,2.3007e-13,0.0413289409861389,0.16269366302135,0.164117789099191,N,385.32192,4.13665,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,1.27E-02,0.0,0.0,0.0,0.0,0.0275559105431309,0.0007987220447284345,0.0179712460063897,0.0,,N,N,N,0.286918018658729,N,Zfp777,,,,,,0.8571634618680983,Tumour Suppressor,tools
15,AGAP3,0,,GRCh38,chr7,151143354,151143354,+,Missense_Mutation,SNP,C,C,T,rs372948404,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.2287C>T,p.Arg763Cys,p.R763C,ENST00000397238,17/18,23,14,9,27,27,0,"AGAP3,missense_variant,p.Arg432Cys,ENST00000463381,;AGAP3,missense_variant,p.Arg256Cys,ENST00000461065,;AGAP3,missense_variant,p.Arg763Cys,ENST00000397238,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473633,;",T,ENSG00000133612,ENST00000397238,Transcript,missense_variant,2287,2287,763,R/C,Cgc/Tgc,"rs372948404,COSM238722",,,1,AGAP3,HGNC,16923,protein_coding,YES,CCDS43681.1,ENSP00000380413,AGAP3_HUMAN,"Q96T14_HUMAN,D3DX07_HUMAN",UPI0000DAC777,,deleterious(0.01),possibly_damaging(0.888),17/18,,"PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF198,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863",,,,,,,,T:0.0002,T:0.0001,,"0,1",,,,,,MODERATE,,SNV,,,"0,1",,,,,,,,,,,PASS,"SITE|p.R763C|c.2287C>T|3,BUFFER|p.R766W|c.2296C>T|3",MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,AGGAACGCTGG,byFrequency|byCluster,5,R,C,rs372948404,7,150840441,7,150471374,432;763;727,AGAP3;AGAP3;AGAP3,ENSG00000133612;ENSG00000133612;ENSG00000133612,ENST00000463381;ENST00000397238;ENST00000622464,ENSP00000418016;ENSP00000380413;ENSP00000480655,Q96P47-5;Q96P47-4;Q96P47,AGAP3_HUMAN;AGAP3_HUMAN;AGAP3_HUMAN,c.1294C>T;c.2287C>T;c.2179C>T,p.R432C;p.R763C;p.R727C,c.1294C>T;c.2287C>T;c.2179C>T,p.Arg432Cys;p.Arg763Cys;p.Arg727Cys,c.1294C>T;c.2287C>T;c.2179C>T,p.Arg432Cys;p.Arg763Cys;p.Arg727Cys,.;principal2;alternative2,Y;Y;Y,2;1;1,.;YES;.,+;+;+,CGC;CGC;CGC,1;1;1,0;0;0,C,C/C,C/C,C/C,C/C,0.017;0.004;.,0.65419,D;D;.,0.011;0.007;0.012,0.69154,D;D;D,.;0.994;0.995,0.67487,.;D;D,.;0.799;0.846,0.60472,.;P;P,0.002143,0.37138,N,0.300824,1;1,0.81001,D;D,simple_aae;simple_aae,R763C;R432C,.;.;3.07,0.87108,.;.;M,0.91;0.91;.,0.44856,T;T;.,-4.46;-4.31;.,0.77798,D;D;.,0.433;0.423;0.416,0.47208,-0.4354,0.70884,T,0.2568,0.62733,T,10,0.39980936;0.39980936;0.39980936,0.55487,T;T;T,0.100849,0.77338,D,0.285;0.285;.,0.60338,.;.;.;,,.;.;.;,.;.;.;,.;.;.;,0.482581879477;0.482581879477;0.482581879477,0.47888,.;0.548201540080885;.,0.54746,.;1.47749846477;.,0.86654,0.521706461906,0.41866,T,.;.;0.237757,0.60552,.;.;T,-0.155635,0.27433,T,-0.181901,0.56347,T,0.589614927768707,0.35991,D,0.920308;0.925907;0.925907,0.72722,D;D;D,.;.;0.2802963,0.51078,.;.;0.20414682,0.44525,.;.;0.2802963,0.51077,.;.;0.20414682,0.44524,-5.646;-6.33;-6.21,0.75775,T;T;T,.;.;.,,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,.;.;.,0.1109;0.0946;0.0959,0.21541,B;B;B,.;.;.;,.;.;.;,.;.;.;,.;.;.;,.;.;.;,.;.;.;,4.106981,0.82327,27.8,4.219943,0.88673,29.6,0.99934535200025298,0.99535,0.92833,0.56657,D,AEFDBCIJ,0.548217,0.56159,D,0.488643140825256,0.66425,4.948519,0.468496625539419,0.65912,4.884255,0.999999966554349,0.74766,0.706548,0.73137,0,0.724815,0.89359,0,0.723109,0.80598,0,0.711,0.71501,0,,,5.28,4.4,0.52402,3.379000,0.52172,3.275000,0.37188,0.599000,0.40250,1.000000,0.71638,1.000000,0.68203,0.971000,0.54645,0.0:0.9242:0.0:0.0758,13.3045,0.59781,929,0.16858,,,,,,,,,,,,,,,,,,,1,2.3719165085388995E-4,1,1.178967224711153E-4,8,6.605e-05,8,6.846e-05,1,1.027e-04,0,0,1,1.161e-04,0,0,3,4.563e-05,3,2.181e-04,7,6.609e-05,7,6.879e-05,1,1.190e-04,0,0,1,1.276e-04,0,0,2,3.743e-05,3,2.197e-04,8,8.843e-05,8,9.280e-05,1,1.029e-04,0,0,1,1.786e-04,0,0,3,7.291e-05,3,2.182e-04,,16,247220,6.471970e-05,0,2,15476,1.292320e-04,0,0,34398,0.000000e+00,0,0,9888,0.000000e+00,0,1,17968,5.565450e-05,0,0,21466,0.000000e+00,0,6,111680,5.372490e-05,0,6,30348,1.977070e-04,0,6,30348,1.977070e-04,0,6,107976,5.556790e-05,0,15,204362,7.339920e-05,0,16,232724,6.875100e-05,0,15,240718,6.231360e-05,0,1,7132,1.402130e-04,0,0,16986,0.000000e+00,0,0,2266,0.000000e+00,0,0,8640,0.000000e+00,0,0,13260,0.000000e+00,0,1,42248,2.366980e-05,0,3,15564,1.927530e-04,0,3,15564,1.927530e-04,0,2,15440,1.295340e-04,0,0,30366,0.000000e+00,0,0,6088,0.000000e+00,0,1,13002,7.691120e-05,0,0,16594,0.000000e+00,0,5,87792,5.695280e-05,0,6,30340,1.977590e-04,0,6,30340,1.977590e-04,0,2,14126,1.415830e-04,0,0,34066,0.000000e+00,0,0,9380,0.000000e+00,0,1,17276,5.788380e-05,0,0,21450,0.000000e+00,0,6,100688,5.959000e-05,0,6,30258,1.982950e-04,0,6,30258,1.982950e-04,0,2,11344,1.763050e-04,0,0,34264,0.000000e+00,0,0,9806,0.000000e+00,0,1,17964,5.566690e-05,0,0,21464,0.000000e+00,0,5,109598,4.562130e-05,0,6,30348,1.977070e-04,0,6,30348,1.977070e-04,0,,16,152100,1.051940e-04,0,2,4830,4.140790e-04,0,11,41416,2.655980e-04,0,0,910,0.000000e+00,0,1,15258,6.553940e-05,0,0,3472,0.000000e+00,0,1,5190,1.926780e-04,0,0,10594,0.000000e+00,0,0,316,0.000000e+00,0,1,68024,1.470070e-05,0,2,4830,4.140790e-04,0,3,32872,9.126310e-05,0,14,134702,1.039330e-04,0,16,147844,1.082220e-04,0,11,80668,1.363610e-04,0,2,9096,2.198770e-04,0,0,60,0.000000e+00,0,1,4684,2.134930e-04,0,0,136,0.000000e+00,0,0,2430,0.000000e+00,0,0,5470,0.000000e+00,0,0,246,0.000000e+00,0,0,6850,0.000000e+00,0,0,3114,0.000000e+00,0,9,32454,2.773160e-04,0,0,862,0.000000e+00,0,1,14812,6.751280e-05,0,0,3388,0.000000e+00,0,1,5190,1.926780e-04,0,0,6954,0.000000e+00,0,0,310,0.000000e+00,0,1,63904,1.564850e-05,0,2,4828,4.142500e-04,0,11,41094,2.676790e-04,0,0,910,0.000000e+00,0,1,15070,6.635700e-05,0,0,3302,0.000000e+00,0,1,4954,2.018570e-04,0,0,10594,0.000000e+00,0,0,304,0.000000e+00,0,1,64798,1.543260e-05,0,2,4798,4.168400e-04,0,7,24794,2.823260e-04,0,0,110,0.000000e+00,0,1,12884,7.761560e-05,0,0,998,0.000000e+00,0,1,3748,2.668090e-04,0,0,10502,0.000000e+00,0,0,272,0.000000e+00,0,0,21042,0.000000e+00,0,2,4802,4.164930e-04,0,1,30988,3.2270556344391374E-5,0,114,0,0,86,0,0,2804,0,0,500,0,0,628,0,0,26,0,0,98,0,1,4582,2.1824530772588389E-4,0,2918,0,0,112,0,2,39826,5.021845025862502E-5,,,,,,,,,,.;.;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein,,,,AGAP3,AGAP3,ENSG00000133612,7,CENTG3,,Q96P47,AGAP3_HUMAN,116988,CCDS43681;CCDS55185;CCDS64802;CCDS78287;CCDS83243,NM_001042535;NM_031946,uc003wjg.3,616813,616813,"ArfGAP with GTPase domain, ankyrin repeat and PH domain 3",,,,Endocytosis - Homo sapiens (human),,,"FUNCTION: GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway. {ECO:0000269|PubMed:16461359, ECO:0000305}.; ",,,,,,,Loneliness[27629369];Eyebrow thickness[26926045];,,,"obsolete protein import into nucleus, translocation;signal transduction;cellular response to reactive oxygen species;proteasome-mediated ubiquitin-dependent protein catabolic process;positive regulation of GTPase activity",nucleus;cytoplasm;membrane;cell periphery,GTPase activity;GTPase activator activity;GTP binding;polyubiquitin modification-dependent protein binding;metal ion binding,"Widely expressed. {ECO:0000269|PubMed:15381706, ECO:0000269|PubMed:16461359}.;",cochlea;intestine;pharynx;cornea;skin;stomach;testis;lens;unclassifiable (Anatomical System);cerebellum;choroid;kidney;larynx;uterus;retina;whole body;muscle;bile duct;head and neck;mammary gland;skeletal muscle;islets of Langerhans;visual apparatus;fovea centralis;pineal body;liver;cartilage;endometrium;bone;parathyroid;brain;blood;heart;bone marrow;duodenum;lung;salivary gland;ovary;thyroid;macula lutea;frontal lobe;colon;placenta;prostate;optic nerve;breast;,amygdala;uterus;fetal 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];SH3D21[NA];SNRNP200[NA];RPL35[NA];KIF5B[NA];LUC7L3[NA];NOMO1[NA];TMPO[NA];TBL3[NA];UPF2[NA];CPSF3[NA];KARS[NA];PCBP2[NA];CAPZA1[NA];LYAR[NA];PCNA[NA];EIF3C[NA];XRCC5[NA];RPL37A[NA];SRSF1[NA];RPLP0P6[NA];DDX46[NA];ARIH1[NA];DDX54[NA];PSMD1[NA];PLS1[NA];VN1R5[NA];GSTP1[NA];ERLIN1[NA];PES1[NA];DNAJA3[NA];PRPSAP1[NA];XRCC6[NA];WDR82[NA];LRRC47[NA];DHX9[NA];RPS8[NA];DRG1[NA];ACLY[NA];AIMP1[NA];HNRNPM[NA];AP3M1[NA];MYL6B[NA];CAD[NA];HAT1[NA];LANCL1[NA];CRLF3[NA];SNRPD1[NA];KIF2A[NA];VARS[NA];JUN[NA];CFAP20[NA];MICU2[NA];MTHFR[NA];TIMM23B[NA];ARL1[NA];CLTC[NA];HNRNPCL1[NA];MRPS22[NA];HSPA8[NA];NEMF[NA];TUBA4A[NA];EXOSC10[NA];MAP1B[NA];MTREX[NA];RSL1D1[NA];CAND1[NA];EBNA1BP2[NA];FLII[NA];YWHAE[NA];COPB2[NA];PRDX3[NA];NOSIP[NA];BCAS2[NA];ZC3H15[NA];EIF2B3[NA];EIF3F[NA];MRPS2[NA];IPO8[NA];CMAS[NA];LSM12[NA];HSP90B1[NA];RPL27A[NA];MAP4K4[NA];GART[NA];G3BP2[NA];SF3B4[NA];AFDN[NA];RBM4[NA];RPL36[NA];PARP1[NA];EIF3D[NA];RPL4[NA];DLST[NA];CSDE1[NA];SRSF7[NA];USP7[NA];RPL14[NA];RPN2[NA];TALDO1[NA];SF3A1[NA];ATP5F1A[NA];RPL12[NA];RPS29[NA];LARP1[NA];AIFM1[NA];MYH11[NA];POLDIP3[NA];MRPS18A[NA];LRRC40[NA];FHL3[NA];TARS[NA];ISG20L2[NA];MYL12A[NA];HSD17B11[NA];XPOT[NA];ISOC1[NA];MYLK[NA];VDAC1[NA];CRKL[NA];HP1BP3[NA];COPS4[NA];PAICS[NA];TKT[NA];U2AF2[NA];PRPH[NA];PURA[NA];PHF6[NA];DDX56[NA];LAP3[NA];ALDOA[NA];HDAC1[NA];WDR18[NA];RPL13A[NA];SLC25A13[NA];NDUFA6[NA];FBXO22[NA];PSMC5[NA];DHX16[NA];C7orf50[NA];MTAP[NA];RUVBL2[NA];RFC2[NA];NDUFS3[NA];YBX3[NA];HSP90AA5P[NA];DDX27[NA];RPS12[NA];KPNA2[NA];PRDX6[NA];SF3B2[NA];ENO1[NA];TRAP1[NA];C11orf98[NA];NCBP1[NA];EIF2B4[NA];GTSE1[NA];ATF3[NA];SRSF6[NA];TCP1[NA];SMU1[NA];PSMA6[NA];RPS26[NA];RPUSD3[NA];RPL18A[NA];AP2S1[NA];SSR3[NA];CCT8[NA];CAPRIN1[NA];CBR1[NA];CHTOP[NA];WARS[NA];CREB5[NA];SLC25A1[NA];RPL3[NA];EIF6[NA];GTF3C1[NA];SNW1[NA];PSMB6[NA];CYC1[NA];CAP1[NA];PPIB[NA];SERPINH1[NA];MB21D2[NA];DARS[NA];ATF2[NA];GTF3C5[NA];RTCB[NA];PTBP2[NA];MYO1C[NA];MRPL22[NA];NDUFA9[NA];ASNS[NA];SND1[NA];PCBP1[NA];RPL35A[NA];RPS16[NA];TUBB1[NA];MOGS[NA];SEPT2[NA];PHGDH[NA];CFL1[NA];EXOC4[NA];BUB3[NA];GRPEL1[NA];HIST1H1A[NA];SRSF9[NA];ZYX[NA];RPLP1[NA];RPS17[NA];ADAR[NA];NOM1[NA];RPL21[NA];CPSF6[NA];PSMC6[NA];RPS10P5[NA];EIF2S1[NA];RFC3[NA];RBM34[NA];NELFB[NA];EIF2B5[NA];NPEPPS[NA];RPL6[NA];PSMA4[NA];ZC3H7B[NA];ETFA[NA];UQCRFS1P1[NA];DHRS7B[NA];TUBB6[NA];RPL11[NA];CSNK1D[NA];NIPSNAP2[NA];CCT2[NA];EIF2A[NA];FOSB[NA];CUL5[NA];NUDC[NA];TMCO1[NA];FIGNL1[NA];TBC1D4[NA];CSNK1A1[NA];RRP1[NA];DAZAP1[NA];SRSF11[NA];DDX47[NA];MRS2[NA];PPP2R2A[NA];DDX17[NA];KPNA4[NA];PWP1[NA];PABPN1[NA];PKM[NA];ATP1A1[NA];SNRPB[NA];PTBP1[NA];RPF2[NA];MAPK1[NA];MRPS27[NA];RAB1A[NA];HSPA2[NA];RTCA[NA];FXR1[NA];NACA[NA];FARSA[NA];WDR3[NA];RPL29[NA];PRDX2[NA];RECQL[NA];TMEM109[NA];ATP5F1C[NA];POLRMT[NA];RPS23[NA];DHX29[NA];EWSR1[NA];IARS[NA];RPS9[NA];EMG1[NA];RPL9[NA];ABCD3[NA];RPS5[NA];DPM1[NA];PRPF8[NA];DDX39A[NA];PGK1[NA];ELP1[NA];CSTB[NA];ABCF1[NA];NSUN2[NA];IRS4[NA];DDX52[NA];PSMD7[NA];SMAP1[NA];NBR1[NA];MT-CO2[NA];TMPO[NA];MRPL1[NA];RPL23[NA];CC2D1A[NA];RFC5[NA];PYCR1[NA];CNOT1[NA];THOC2[NA];CCT4[NA];TFIP11[NA];EEF2[NA];MRPS5[NA];IGF2BP3[NA];MEF2A[NA];RBM28[NA];UMPS[NA];HSPA5[NA];DCAF6[NA];HNRNPA0[NA];GCN1[NA];STRAP[NA];TUBB4B[NA];RPN1[NA];DDX24[NA];TUBB4A[NA];P4HB[NA];TRMT6[NA];UPF3B[NA];POP1[NA];KRR1[NA];SRRT[NA];BYSL[NA];LETM1[NA];MRPS18B[NA];ATP6V1E1[NA];KIF5A[NA];SCAF8[NA];PRIM2[NA];GMPS[NA];GPX4[NA];LARP7[NA];RPL23A[NA];ELOB[NA];HIST1H2BA[NA];ATP2A2[NA];SSBP1[NA];SRSF2[NA];LUC7L2[NA];HNRNPC[NA];STIM1[NA];MYL6[NA];RPL8[NA];DNAJB1[NA];HNRNPD[NA];SART1[NA];MRPS9[NA];PHAX[NA];CDC73[NA];ANKHD1[NA];HNRNPH3[NA];IPO9[NA];USP10[NA];DDX31[NA];MRPS14[NA];PSMD2[NA];SLC25A5[NA];WDR45B[NA];GFPT1[NA];POLR1C[NA];MYH14[NA];RANBP1[NA];NRDC[NA];PSMC3[NA];UBE2L3[NA];PRPF40A[NA];EXOSC8[NA];KIFC1[NA];IMMT[NA];DNAJC7[NA];CSE1L[NA];DLD[NA];TROVE2[NA];TOP1[NA];DYNC1H1[NA];RPL22[NA];RPL10L[NA];MRPL37[NA];PTPN1[NA];CPOX[NA];LARP4[NA];CDC37[NA];RRP12[NA];PRPF19[NA];ABCF2[NA];RPP30[NA];SUPT16H[NA];ACTR1A[NA];ACAD11[NA];GABARAP[NA];ZFR[NA];MCM3[NA];CKAP2[NA];SNRPD2[NA];FLNA[NA];MYH9[NA];HDLBP[NA];EEF1G[NA];SLC25A4[NA];RPS2[NA];DDX23[NA];CCT5[NA];MDH1[NA];NOC4L[NA];EIF2B1[NA];RNGTT[NA];PSMB1[NA];H1F0[NA];FEN1[NA];PDIA3[NA];DIMT1[NA];SRPK1[NA];YTHDC2[NA];CIRBP[NA];DKC1[NA];TARSL2[NA];RPS4X[NA];PGAM1[NA];ATP2A1[NA];EIF4A3[NA];SSR4[NA];CCNB1[NA];EPRS[NA];SDHB[NA];CTNNBL1[NA];LRRC59[NA];ERLIN2[NA];RPS20[NA];RPS10[NA];TARS2[NA];EEF1D[NA];SARS2[NA];PYM1[NA];DBT[NA];PPP1CA[NA];EIF3L[NA];GNB1[NA];POLDIP2[NA];AASDHPPT[NA];SHMT1[NA];DHX15[NA];SNX1[NA];CAMK2D[NA];RPL28[NA];SHMT2[NA];TSC22D3[0.005];YWHAB[0.258];FKBP6[0.569];MIER2[0.091];NTRK1[0.912];HERC2[0.280];FLCN[0.345];GPR156[0.167];ARHGAP22[0.159];LZTS2[0.230];KBTBD7[0.004];JPH4[0.372];PDLIM5[0.157],,0.684573173522949,Y,0.653500261,0.11189,,-1,8.54,0.002070546,-1.223659583,6.288777784,0.991380425409819,0.00861957118321543,3.40696579418365e-09,0.978701847272825,0.021298121361751,3.13654240057991e-08,0.974108299206183,0.0258916387020246,6.20917926400185e-08,9.0040e-01,9.9568e-02,3.3635e-05,0.811199872514084,1.20456876060999,1.20345398423828,N,95.08252,2.10265,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,2.21E-01,0.0027955271565495,0.0023961661341853,0.0003993610223642173,0.0,0.0319488817891373,0.0031948881789137,0.0151757188498402,0.0,,N,N,N,0.330757941605411,N,Agap3,,,,,,0.005474677933805946,Unknown,"frequencies, tools"
16,POR,0,,GRCh38,chr7,75980519,75980519,+,Intron,SNP,C,C,G,rs373201804,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.516+31C>G,,,ENST00000461988,,11,6,5,8,8,0,"POR,missense_variant,p.Arg156Gly,ENST00000447222,;POR,missense_variant,p.Arg4Gly,ENST00000450476,;POR,intron_variant,,ENST00000394893,;POR,intron_variant,,ENST00000461988,;POR,intron_variant,,ENST00000439963,;POR,intron_variant,,ENST00000545601,;POR,intron_variant,,ENST00000419840,;POR,downstream_gene_variant,,ENST00000439297,;POR,downstream_gene_variant,,ENST00000432753,;POR,downstream_gene_variant,,ENST00000414186,;POR,downstream_gene_variant,,ENST00000453773,;POR,downstream_gene_variant,,ENST00000426184,;POR,downstream_gene_variant,,ENST00000412521,;POR,upstream_gene_variant,,ENST00000439269,;POR,downstream_gene_variant,,ENST00000475509,;POR,3_prime_UTR_variant,,ENST00000448410,;POR,intron_variant,,ENST00000454934,;POR,intron_variant,,ENST00000412064,;POR,upstream_gene_variant,,ENST00000487247,;POR,upstream_gene_variant,,ENST00000495770,;POR,downstream_gene_variant,,ENST00000471238,;POR,upstream_gene_variant,,ENST00000460892,;POR,upstream_gene_variant,,ENST00000496888,;",G,ENSG00000127948,ENST00000461988,Transcript,intron_variant,,,,,,rs373201804,,,1,POR,HGNC,9208,protein_coding,YES,CCDS5579.1,ENSP00000419970,NCPR_HUMAN,"Q59ED7_HUMAN,E7EMD0_HUMAN,C9JQ78_HUMAN",UPI000013D5F4,,,,,5/15,,,,,,,,,T:0.0013,T:0.0001,,,,,,,,MODIFIER,,SNV,,,,,,,,,,,,,,PASS,NONE,MUTECT|MUSE,GCTCCCGGTGG,byFrequency|byCluster,2,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,POR,POR,ENSG00000127948,7,,CYPOR;FLJ26468,P16435,NCPR_HUMAN,5447,CCDS5579,NM_000941,uc003udy.4,124015,124015,cytochrome p450 oxidoreductase,,,,"Doxorubicin Pathway, Pharmacokinetics;Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Doxorubicin Metabolism Pathway;Integrated Lung Cancer Pathway;Oxidation by Cytochrome P450;Phase I - Functionalization of compounds;oxidative stress induced gene expression via nrf2;Cytochrome P450 - arranged by substrate type;Biological oxidations;Metabolism;superpathway of tryptophan utilization;bile acid biosynthesis, neutral pathway;vitamin D<sub>3</sub> biosynthesis;melatonin degradation I;superpathway of melatonin degradation",,,FUNCTION: This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. {ECO:0000255|HAMAP- Rule:MF_03212}.; ,"DISEASE: Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. {ECO:0000269|PubMed:14758361, ECO:0000269|PubMed:15264278, ECO:0000269|PubMed:15483095}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. {ECO:0000269|PubMed:14758361, ECO:0000269|PubMed:15220035}. Note=The disease is caused by mutations affecting the gene represented in this entry.; ",201750;613571;,"[MIM:201750]Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis;[MIM:613571]Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency;",95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Disease-causing germline mutation(s) in,Coffee consumption (cups per day)[25288136];Coffee consumption[25288136];,HP:0001061;HP:0008214;HP:0012881;HP:0008675;HP:0000098;HP:0002616;HP:0000868;HP:0003154;HP:0011742;HP:0008665;HP:0011800;HP:0030258;HP:0000028;HP:0040171;HP:0000048;HP:0008226;HP:0005616;HP:0011749;HP:0008726;HP:0001007;HP:0000822;HP:0030084;HP:0000939;HP:0000051;HP:0008163;HP:0030014;HP:0000369;HP:0001363;HP:0030088;HP:0000453;HP:0002750;HP:0008730;HP:0008734;HP:0000054;HP:0001371;HP:0008072;HP:0000033;HP:0000061;HP:0007440;HP:0012244;HP:0000452;HP:0001166;HP:0000840;HP:0004322;HP:0000823;HP:0100779;HP:0008258;HP:0000140;HP:0000447;HP:0012041;HP:0008187;HP:0012412;HP:0000037;HP:0002937;HP:0001939;HP:0000248;HP:0000272;HP:0001562;HP:0002007;HP:0000453;HP:0000818;HP:0008072;HP:0000062;HP:0000054;HP:0001586;HP:0000147;HP:0000047;HP:0000066;HP:0000046;HP:0008368;HP:0000452;HP:0003031;HP:0000028;HP:0000405;HP:0001601;HP:0002308;HP:0000007;HP:0008665;HP:0000377;HP:0001166;HP:0002980;HP:0011800;HP:0003041;HP:0000252;HP:0000520;HP:0009473;HP:0002780;HP:0000085;HP:0001195;HP:0001363;HP:0032569;HP:0002650;HP:0000316;HP:0001518;HP:0001838;HP:0000041;HP:0002676;HP:0008073;HP:0012385;HP:0002974;HP:0005280;HP:0001438;HP:0000048;HP:0009702;HP:0003041;HP:0000452;HP:0001249;HP:0000272;HP:0000402;HP:0012385;HP:0004440;HP:0004443;HP:0002980;HP:0000774;HP:0000343;HP:0000520;HP:0002007;HP:0012210;HP:0002781;HP:0000059;HP:0001838;HP:0000453;HP:0000238;HP:0000063;HP:0000248;HP:0001631;HP:0000006;HP:0000377;HP:0001371;HP:0005280;HP:0000007;HP:0001166;HP:0003031;HP:0003275;HP:0011800;HP:0000260;HP:0000148;HP:0008258;HP:0000007;HP:0000062;HP:0003154,"Acne;Decreased serum estradiol;Abnormality of the labia majora;Enlarged polycystic ovaries;Tall stature;Aortic root aneurysm;Decreased fertility in females;Increased circulating ACTH level;Ectopic adrenal gland;Clitoral hypertrophy;Midface retrusion;Hyperpigmented genitalia;Cryptorchidism;Decreased serum testosterone level;Bifid scrotum;Androgen insufficiency;Accelerated skeletal maturation;Adrenocorticotropic hormone excess;Hypoplasia of the vagina;Hirsutism;Hypertension;Clinodactyly;Osteoporosis;Perineal hypospadias;Decreased circulating cortisol level;Female sexual dysfunction;Low-set ears;Craniosynostosis;Increased serum testosterone level;Choanal atresia;Delayed skeletal maturation;Female external genitalia in individual with 46,XY karyotype;Decreased testicular size;Micropenis;Flexion contracture;Maternal virilization in pregnancy;Ambiguous genitalia, male;Ambiguous genitalia, female;Generalized hyperpigmentation;Abnormal sex determination;Choanal stenosis;Arachnodactyly;Adrenogenital syndrome;Short stature;Delayed puberty;Urogenital sinus anomaly;Congenital adrenal hyperplasia;Abnormality of the menstrual cycle;Pear-shaped nose;Decreased fertility in males;Absence of secondary sex characteristics;Premature adrenarche;Male pseudohermaphroditism;Hemivertebrae;Abnormality of metabolism/homeostasis;Brachycephaly;Malar flattening;Oligohydramnios;Frontal bossing;Choanal atresia;Abnormality of the endocrine system;Maternal virilization in pregnancy;Ambiguous genitalia;Micropenis;Vesicovaginal fistula;Polycystic ovaries;Hypospadias;Labial hypoplasia;Scrotal hypoplasia;Tarsal synostosis;Choanal stenosis;Ulnar bowing;Cryptorchidism;Conductive hearing impairment;Laryngomalacia;Arnold-Chiari malformation;Autosomal recessive inheritance;Clitoral hypertrophy;Abnormality of the pinna;Arachnodactyly;Femoral bowing;Midface retrusion;Humeroradial synostosis;Microcephaly;Proptosis;Joint contracture of the hand;Bronchomalacia;Horseshoe kidney;Single umbilical artery;Craniosynostosis;Temporal bossing;Scoliosis;Hypertelorism;Small for gestational age;Rocker bottom foot;Chordee;Cloverleaf skull;Low maternal serum estriol;Camptodactyly;Radioulnar synostosis;Depressed nasal bridge;Abnormality of abdomen morphology;Bifid scrotum;Carpal synostosis;Humeroradial synostosis;Choanal stenosis;Intellectual disability;Malar flattening;Stenosis of the external auditory canal;Camptodactyly;Coronal craniosynostosis;Lambdoidal craniosynostosis;Femoral bowing;Narrow chest;Long philtrum;Proptosis;Frontal bossing;Abnormal renal morphology;Upper airway obstruction;Hypoplastic labia majora;Rocker bottom foot;Choanal atresia;Hydrocephalus;Fused labia minora;Brachycephaly;Atrial septal defect;Autosomal dominant inheritance;Abnormality of the pinna;Flexion contracture;Depressed nasal bridge;Autosomal recessive inheritance;Arachnodactyly;Ulnar bowing;Narrow pelvis bone;Midface retrusion;Wide anterior fontanel;Vaginal atresia;Congenital adrenal hyperplasia;Autosomal recessive inheritance;Ambiguous genitalia;Increased circulating ACTH level",regulation of growth plate cartilage chondrocyte proliferation;xenobiotic metabolic process;response to nutrient;carnitine metabolic process;response to hormone;flavonoid metabolic process;internal peptidyl-lysine acetylation;fatty acid oxidation;electron transport chain;positive regulation of chondrocyte differentiation;positive regulation of monooxygenase activity;response to drug;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;nitrate catabolic process;positive regulation of cholesterol biosynthetic process;positive regulation of smoothened signaling pathway;nitric oxide catabolic process;oxidation-reduction process;negative regulation of lipase activity;demethylation;cellular response to follicle-stimulating hormone stimulus;cellular response to peptide hormone stimulus;positive regulation of steroid hormone biosynthetic process;cellular organofluorine metabolic process,mitochondrion;endoplasmic reticulum membrane;cytosol;membrane;integral component of membrane;intracellular membrane-bounded organelle,"NADPH-hemoprotein reductase activity;cytochrome-b5 reductase activity, acting on NAD(P)H;protein binding;nitric oxide dioxygenase activity;electron transfer activity;FMN binding;oxidoreductase activity;hydrolase activity;enzyme binding;iron-cytochrome-c reductase activity;flavin adenine dinucleotide binding;NADP binding",,,,EVC2[26638075];XRCC6[16169070];PGRMC1[21081644];STAT1[21988832];TCTN3[26638075];TCTN2[26638075];TMEM216[26638075];CYCS[18230729];RABEPK[21900206];,NDUFB9[26344197];ATL3[26344197];INSIG1[21081644];DERL1[22119785];DERL2[22119785];PLOD3[26344197];PLOD1[26344197];CYP2C19[9398194;15680923];CYP3A4[15680923];RNF4[29180619];RABEPK[21900206];PGRMC1[21081644];XPO1[26344197];CYP2D6[15680923];TCTN3[26638075];TCTN2[26638075];RARS[28514442];NDUFV1[26344197];SNX8[28514442];UBXN6[26186194;26389662;28514442];NTRK1[25921289];EVC2[26638075];STAT1[21988832];BTN2A1[26186194];SYVN1[22119785];DARS2[26344197];FANCC[9787138];CTDNEP1[27880917];CYP2C9[9398194;19448135];CYP2A6[15680923];POR[15980100];VAPA[26344197];EWSR1[26344197];TMEM216[26638075];CYP1A2[9398194;15680923];SRPRB[26186194];CYP2E1[9398194;15680923;15980100];ZNF598[28685749];,CYP7A1[0.999];CYP2R1[0.999];CYP1B1[0.999];CYP1A2[0.999];CYP2C19[0.999];PGRMC1[0.999];CCDC115[NA];EMC8[NA];VAMP3[NA];SLC39A7[NA];TMEM214[NA];IKBIP[NA];CISD2[NA];MLEC[NA];TCTN2[NA];ATP6AP1[NA];VAPA[NA];HSD17B12[NA];VAPB[NA];ATP13A1[NA];HMOX2[NA];PLOD3[NA];PDIA6[NA];ZMPSTE24[NA];FKBP8[NA];TOR1AIP1[NA];CKAP4[NA];CCDC47[NA];HACD3[NA];DDRGK1[NA];KRTCAP2[NA];LMF2[NA];DNAJC16[NA];CACNA1A[NA];EMC6[NA];HACD2[NA];MFSD10[NA];LBR[NA];PREB[NA];SOAT1[NA];HYOU1[NA];CAMLG[NA];VRK2[NA];SGPL1[NA];BNIP1[NA];TMEM120B[NA];TLCD2[NA];VKORC1L1[NA];NSDHL[NA];LEMD3[NA];ADIPOR2[NA];SEC63[NA];MBOAT2[NA];FAF2[NA];DEPDC1B[NA];TMX3[NA];TMEM43[NA];CLGN[NA];DGKE[NA];NUS1[NA];ARHGAP1[NA];ANO10[NA];ITGB1[NA];PIGS[NA];ARL6IP5[NA];UBE2J1[NA];SNAP47[NA];CANX[NA];AUP1[NA];SRPRA[NA];ADIPOR1[NA];DDOST[NA];PDIA4[NA];TMEM161A[NA];SEC11A[NA];NDUFA5[NA];TAP2[NA];GPAT3[NA];SEC22B[NA];MBOAT7[NA];ALG3[NA];TMEM230[NA];RABL3[NA];LRRC59[NA];BCAP31[NA];TMEM209[NA];SRPRB[NA];DOLPP1[NA];LMAN1[NA];RAB10[NA];STT3B[NA];ACSL3[NA];EMC1[NA];SLC33A1[NA];ALG9[NA];SPCS1[NA];EMC10[NA];ALDH3A2[NA];DNAJC1[NA];CLPTM1L[NA];MAGT1[NA];SPCS2[NA];VAMP2[NA];ATP6V1F[NA];ESYT1[NA];PIGU[NA];RHBDD2[NA];ATP6AP2[NA];LNPK[NA];CERS2[NA];TECR[NA];TLCD1[NA];NDUFS8[NA];TMPO[NA];ARF5[NA];SURF4[NA];TBL2[NA];YKT6[NA];EMC4[NA];RAB7A[NA];UBXN4[NA];RAB31[NA];EMC2[NA];CYB5R3[NA];NDC1[NA];CDKAL1[NA];MKS1[NA];DHCR7[NA];WDR41[NA];EBP[NA];DAD1[NA];PGRMC2[NA];RPN2[NA];HSP90B1[NA];TEX264[NA];RER1[NA];SNX19[NA];DHRS7[NA];SSR3[NA];ANO6[NA];DNAJB11[NA];VMP1[NA];SEC62[NA];AGPAT1[NA];RTN3[NA];SPCS3[NA];TMCO1[NA];NCOA2[NA];DHRS7B[NA];AAAS[NA];TMEM109[NA];OSBPL8[NA];RAB1A[NA];TMX1[NA];GOSR2[NA];EMC3[NA];RFT1[NA];REEP2[NA];VEZT[NA];RPN1[NA];HSPA5[NA];ABHD12[NA];FADS2[NA];JAGN1[NA];LMBR1L[NA];STIM1[NA];ATP2A2[NA];GPAT4[NA];TMEM38B[NA];BRI3BP[NA];CLCC1[NA];WLS[NA];HM13[NA];BET1[NA];PTPN1[NA];TMEM199[NA];TMEM222[NA];EMC7[NA];MMGT1[NA];APOL2[NA];PRAF2[NA];TMEM35B[NA];PTDSS1[NA];EMD[NA];SEC11C[NA];C1QBP[NA];VMA21[NA];PGRMC2[NA];CTNND1[NA];STEAP3[NA];STAM[NA];RER1[NA];TRIM13[NA];TMX4[NA];TEX264[NA];OSBP[NA];STX10[NA];VMP1[NA];SLC4A7[NA];SLC20A2[NA];DHRS7[NA];ANO6[NA];ARFGAP3[NA];IGF2R[NA];AGPAT1[NA];SLC30A6[NA];NCOA2[NA];SNAP23[NA];TMEM115[NA];PDZD8[NA];OSBPL8[NA];TMX1[NA];USE1[NA];GOLGA5[NA];SLC12A2[NA];CDCA3[NA];EMC3[NA];SCAMP1[NA];SEMA6A[NA];SLC38A2[NA];GOPC[NA];VEZT[NA];STIM1[NA];GOLGA3[NA];JAGN1[NA];CLCN7[NA];PTPN1[NA];TMEM199[NA];SLC38A1[NA];GPAT4[NA];CLCC1[NA];BET1[NA];EMD[NA];MMGT1[NA];SLC6A9[NA];VMA21[NA];LRRC59[NA];BCAP31[NA];STX5[NA];SMPD4[NA];SCYL3[NA];ACSL3[NA];EMC1[NA];SLC33A1[NA];ALG9[NA];DNAJC1[NA];CD99[NA];TMEM209[NA];RTN4[NA];TMEM9[NA];LMAN1[NA];GORASP2[NA];RHBDD2[NA];ATP6AP2[NA];LNPK[NA];RELL1[NA];CERS2[NA];LSR[NA];SPCS2[NA];VAMP2[NA];STX7[NA];ESYT1[NA];WDR11[NA];LPCAT1[NA];RAB7A[NA];UBXN4[NA];TMPO[NA];SLC39A6[NA];YKT6[NA];STX8[NA];SFT2D3[NA];WDR41[NA];CXADR[NA];EMC2[NA];ANKLE2[NA];GPR107[NA];JPH1[NA];NDC1[NA];ROR2[NA];CDKAL1[NA];GOSR1[NA];EIF2AK3[NA];NECTIN2[NA];VAMP3[NA];SLC39A7[NA];MCAM[NA];TMEM214[NA];CYB5B[NA];EFNB1[NA];STX6[NA];EMC8[NA];SLC6A8[NA];FAM91A1[NA];VAPB[NA];HMOX2[NA];TMEM87A[NA];STX12[NA];CISD2[NA];ATP6AP1[NA];VAPA[NA];ITM2C[NA];ACBD3[NA];GBA2[NA];GOLT1B[NA];TOR1AIP1[NA];CKAP4[NA];CCDC47[NA];SCFD1[NA];EFNB2[NA];DDRGK1[NA];VANGL1[NA];OCLN[NA];LYSMD3[NA];CAMLG[NA];SLC1A5[NA];VRK2[NA];SGPL1[NA];BET1L[NA];NSDHL[NA];LBR[NA];PREB[NA];SLC6A15[NA];SLC7A5[NA];LEMD3[NA];SEC63[NA];TMEM216[NA];SEC24B[NA];KTN1[NA];ARHGAP1[NA];ANO10[NA];NUP155[NA];SLC3A2[NA];AUP1[NA];SRPRA[NA];TMEM51[NA];ITGB1[NA];ARL6IP5[NA];PDXDC1[NA];UBE2J1[NA];SLC30A5[NA];CPD[NA];SLC12A4[NA];MTDH[NA];SLC39A10[NA];SEC11A[NA];CHP1[NA];TFRC[NA];CD99L2[NA];GPAT3[NA];MARCKSL1[NA];PDCL[NA];RABL3[NA];SEC22B[NA];DHX30[NA];YKT6[NA];SURF4[NA];TMPO[NA];RAB7A[NA];NDC1[NA];JPH1[NA];EBP[NA];LMAN1[NA];SRPRB[NA];TMEM209[NA];ALDH3A2[NA];SPCS1[NA];DNAJC1[NA];SLC33A1[NA];ACSL3[NA];CLPTM1L[NA];ATP6AP2[NA];TMEM35B[NA];APOL2[NA];MMGT1[NA];PRAF2[NA];PTDSS1[NA];EMD[NA];LRRC59[NA];CHMP7[NA];BCAP31[NA];VMA21[NA];FADS2[NA];ATP2A2[NA];LMBR1L[NA];HM13[NA];WLS[NA];BET1[NA];BRI3BP[NA];TMEM38B[NA];GPAT4[NA];CLCC1[NA];EMC7[NA];TMEM199[NA];PTPN1[NA];EMC3[NA];RFT1[NA];RPN1[NA];VEZT[NA];C16orf58[NA];ABHD12[NA];HSPA5[NA];TMCO1[NA];DDX47[NA];LPCAT3[NA];TMEM109[NA];TP53I11[NA];AAAS[NA];GOSR2[NA];TMX1[NA];CAMLG[NA];SGPL1[NA];VRK2[NA];ANO6[NA];DHRS7[NA];SSR3[NA];SNX19[NA];TOR1AIP1[NA];FKBP8[NA];CCDC47[NA];CKAP4[NA];VMP1[NA];DNAJB11[NA];ZMPSTE24[NA];AGPAT1[NA];HACD3[NA];SCD[NA];LMF2[NA];KRTCAP2[NA];SCD5[NA];SPCS3[NA];DAD1[NA];CCDC115[NA];EMC8[NA];PTPN2[NA];TMEM214[NA];PGRMC2[NA];RPN2[NA];TCTN2[NA];ATP6AP1[NA];TEX264[NA];VAPA[NA];CISD2[NA];TRIM13[NA];RER1[NA];VAPB[NA];HMOX2[NA];ATP13A1[NA];EMC4[NA];TBL2[NA];UBXN4[NA];CDKAL1[NA];EMC2[NA];CYB5R3[NA];DHCR7[NA];WDR41[NA];EMC10[NA];ALG9[NA];EMC1[NA];STT3B[NA];ATP6V1F[NA];SPCS2[NA];ESYT1[NA];MAGT1[NA];LNPK[NA];RHBDD2[NA];TLCD1[NA];CERS2[NA];PIGU[NA];TMEM161A[NA];PDIA4[NA];DDOST[NA];GPAT3[NA];SEC11A[NA];STX5[NA];CNIH4[NA];MBOAT7[NA];SEC22B[NA];RABL3[NA];ARL6IP5[NA];UBE2J1[NA];ITGB1[NA];SRPRA[NA];AUP1[NA];CANX[NA];AGK[NA];SEC63[NA];ADIPOR2[NA];LEMD3[NA];C18orf32[NA];CLGN[NA];DEPDC1B[NA];TMEM43[NA];PLD3[NA];DGKE[NA];CACNA1A[NA];EMC6[NA];MFSD10[NA];PREB[NA];LBR[NA];SOAT1[NA];VKORC1L1[NA];TLCD2[NA];TMEM120B[NA];MOGS[NA];SPCS3[NA];NUDCD3[NA];FNDC3A[NA];DHRS7[NA];TRIM13[NA];PGRMC2[NA];RPN1[NA];VEZT[NA];NUDCD2[NA];TMX1[NA];NUDC[NA];EVC2[NA];SMPD4[NA];VMA21[NA];BCAP31[NA];EMD[NA];TMEM199[NA];STIM1[NA];SRPRA[NA];JPH1[NA];ANKLE2[NA];EMC2[NA];CDKAL1[NA];UBXN4[NA];MAGT1[NA];MACO1[NA];ESYT1[NA];SPCS2[NA];BAG2[NA];ATP6AP2[NA];SRPRB[NA];SLC33A1[NA];ACSL3[NA];STT3B[NA];ALDH3A2[NA];DDRGK1[NA];THEM6[NA];SCFD1[NA];CCDC47[NA];CKAP4[NA];TOR1AIP1[NA];ACBD3[NA];ATP6AP1[NA];HMOX2[NA];SEC24B[NA];PLD3[NA];SEC63[NA];SOAT1[NA];PREB[NA];LBR[NA];VRK2[NA];CAMLG[NA];NSDHL[NA];VANGL1[NA];AHCY[NA];MLXIPL[NA];STX5[NA];RABL3[NA];SEC11A[NA];GLMN[NA];ARL6IP5[NA];ATP6V0A1[NA];UBE2J1[NA];DGAT1[NA];ITGB1[NA];PIGS[NA];MGST1[NA];AUP1[NA];SRPRA[NA];CANX[NA];HMGCR[NA];SLC39A10[NA];ATP6V0A2[NA];SLC30A5[NA];PDIA4[NA];DPY19L1[NA];ILVBL[NA];DDOST[NA];MOSPD2[NA];TM9SF3[NA];ORMDL2[NA];GPAT3[NA];TAP2[NA];NDUFA5[NA];SEC11A[NA];IDH3B[NA];REEP4[NA];TFRC[NA];TMED2[NA];CNIH4[NA];ALG3[NA];MBOAT7[NA];SEC22B[NA];UGGT1[NA];RABL3[NA];GANAB[NA];NUP205[NA];TAPT1[NA];RCN2[NA];UFL1[NA];EMC10[NA];ALG9[NA];EMC1[NA];STT3B[NA];ATP6V1F[NA];SPCS2[NA];ESYT1[NA];HSDL2[NA];MAGT1[NA];RHBDD2[NA];TLCD1[NA];NDUFS8[NA];CERS2[NA];PIGU[NA];POMK[NA];TRAM1[NA];EMC4[NA];SLC9A1[NA];UBXN4[NA];TXNDC5[NA];TMEM189[NA];PIGK[NA];EIF2AK3[NA];CDKAL1[NA];EMC2[NA];ANKLE2[NA];TMED9[NA];YIF1B[NA];CYB5R3[NA];DHCR7[NA];WFS1[NA];SCAMP2[NA];SELENOI[NA];SUN1[NA];CCDC115[NA];CYB5B[NA];SLC6A8[NA];EMC8[NA];CALR[NA];TMEM214[NA];IKBIP[NA];ACADSB[NA];SLC39A7[NA];SLC38A9[NA];ATP6AP1[NA];TMEM33[NA];MLEC[NA];UGT8[NA];HSD17B12[NA];CISD2[NA];HMOX2[NA];SLC1A3[NA];ATP13A1[NA];PDIA6[NA];TMEM184C[NA];GOLT1B[NA];TOR1AIP1[NA];FKBP8[NA];CKAP4[NA];CCDC47[NA];NUCB2[NA];ZMPSTE24[NA];TMEM41A[NA];NCLN[NA];HACD3[NA];LMF2[NA];RTN3[NA];SPCS3[NA];NDUFA9[NA];SCD5[NA];KRTCAP2[NA];SELENOF[NA];TMCO1[NA];DDX47[NA];DNAJC16[NA];VANGL1[NA];REEP5[NA];EMC6[NA];DHRS7B[NA];HACD2[NA];MFSD10[NA];PGRMC1[NA];LPCAT3[NA];ORMDL3[NA];SLC25A17[NA];SLC30A6[NA];HYOU1[NA];TRPM7[NA];PREB[NA];TP53I11[NA];LBR[NA];SOAT1[NA];LCLAT1[NA];AAAS[NA];VKORC1L1[NA];NSDHL[NA];ATP1A1[NA];TMEM120B[NA];TLCD2[NA];CAMLG[NA];TMX1[NA];SAMD8[NA];OSBPL8[NA];P4HA1[NA];VRK2[NA];ALG6[NA];SGPL1[NA];SUN2[NA];SEC63[NA];ADIPOR2[NA];UNC93B1[NA];EMC3[NA];LEMD3[NA];RFT1[NA];CLGN[NA];SLC12A2[NA];DPY19L3[NA];REEP2[NA];ERP29[NA];TMX3[NA];TMEM43[NA];ELOVL1[NA];P4HB[NA];RPN1[NA];VEZT[NA];ALDH1B1[NA];SAR1A[NA];CERS1[NA];PRKCSH[NA];HLA-A[NA];NUS1[NA];SLC38A2[NA];SLC37A4[NA];DGKE[NA];ABHD12[NA];TOR1AIP2[NA];HSPA5[NA];CLCN7[NA];JAGN1[NA];FADS2[NA];ATP2A2[NA];SRSF2[NA];NDUFS1[NA];TCTN3[NA];PTDSS2[NA];STIM1[NA];WLS[NA];HM13[NA];BET1[NA];GPAT4[NA];TMEM38B[NA];BRI3BP[NA];CLCC1[NA];EMC7[NA];TMEM199[NA];PTPN1[NA];PDIA3[NA];APOL2[NA];MMGT1[NA];DEGS1[NA];PRAF2[NA];DNAJC10[NA];PTDSS1[NA];EMD[NA];SMPD4[NA];FA2H[NA];C1QBP[NA];LRRC59[NA];BCAP31[NA];VMA21[NA];LMAN1[NA];TMEM209[NA];DOLPP1[NA];SRPRB[NA];ALDH3A2[NA];SPCS1[NA];ATP6V0C[NA];DNAJC1[NA];SLC33A1[NA];ACSL3[NA];GARS[NA];POLR2A[NA];CLPTM1L[NA];NDUFV2[NA];SENP3[NA];ATP6AP2[NA];YKT6[NA];SURF4[NA];SLC35B4[NA];TMPO[NA];RAB7A[NA];RAB31[NA];GRAMD1A[NA];SLC11A2[NA];NDC1[NA];NDUFS2[NA];EBP[NA];DDX54[NA];PLOD1[NA];TMTC3[NA];DAD1[NA];YIF1A[NA];ERO1A[NA];TMEM41B[NA];NIPSNAP1[NA];TMEM245[NA];TAP1[NA];HSP90B1[NA];PGRMC2[NA];RPN2[NA];TM9SF2[NA];NDUFS3[NA];EI24[NA];CDS2[NA];TRIM13[NA];RER1[NA];DNAJC11[NA];ABCB10[NA];ERO1B[NA];ANO6[NA];GSTK1[NA];SSR3[NA];DHRS7[NA];SLC30A7[NA];SSR1[NA];COPE[NA];PPIB[NA];PIGT[NA];DERL1[NA];GPAA1[NA];DNAJB11[NA];VMP1[NA];ERGIC3[NA];RCN1[NA];DNAJC3[NA];ERGIC2[NA];SCD[NA];RABEPK[0.696];CYCS[0.998];ORMDL3[NA];EMC6[NA];MFSD10[NA];CACNA1A[NA];CAMLG[NA];VRK2[NA];TMEM120B[NA];VKORC1L1[NA];LBR[NA];SOAT1[NA];HYOU1[NA];DEPDC1B[NA];TMX3[NA];ERP29[NA];CALU[NA];TMEM43[NA];CLGN[NA];ADIPOR2[NA];SEC63[NA];MBOAT2[NA];DGKE[NA];PRKCSH[NA];CERS1[NA];CALR[NA];IKBIP[NA];CCDC115[NA];EMC8[NA];SLC6A8[NA];LRPAP1[NA];ATP13A1[NA];HMOX2[NA];CISD2[NA];MLEC[NA];ATP6AP1[NA];ZMPSTE24[NA];NUCB2[NA];FKBP8[NA];TOR1AIP1[NA];CCDC47[NA];CKAP4[NA];PLOD3[NA];PDIA6[NA];KRTCAP2[NA];THEM6[NA];LMF2[NA];STT3B[NA];EMC1[NA];ALG9[NA];RCN2[NA];PIGU[NA];POMK[NA];RHBDD2[NA];LNPK[NA];CERS2[NA];TLCD1[NA];MAGT1[NA];SPCS2[NA];ESYT1[NA];UBXN4[NA];TBL2[NA];EMC4[NA];DHCR7[NA];EMC2[NA];CYB5R3[NA];CDKAL1[NA];PIGK[NA];CANX[NA];LMBR1L[NA];PTDSS2[NA];TCTN3[NA];SRPRA[NA];AUP1[NA];ATP2A2[NA];FADS2[NA];PIGS[NA];ITGB1[NA];ARL6IP5[NA];UBE2J1[NA];PTPN1[NA];TMEM199[NA];EMC7[NA];BRI3BP[NA];TMEM38B[NA];GPAT4[NA];CLCC1[NA];WLS[NA];HM13[NA];BET1[NA];SEC11A[NA];PTDSS1[NA];EMD[NA];REEP4[NA];GPAT3[NA];MMGT1[NA];APOL2[NA];PRAF2[NA];DDOST[NA];PDIA4[NA];PDIA3[NA];TMEM35B[NA];RABL3[NA];GANAB[NA];VMA21[NA];UGGT1[NA];LRRC59[NA];BCAP31[NA];SEC22B[NA];MBOAT7[NA];DERL2[NA];ALG3[NA];CNIH4[NA];LPCAT3[NA];PGRMC1[NA];TMCO1[NA];SELENOF[NA];SAMD8[NA];TMX1[NA];RAB1A[NA];ALG6[NA];GOSR2[NA];ATP1A1[NA];AAAS[NA];TMEM109[NA];SIGMAR1[NA];DPY19L3[NA];SLC12A2[NA];EMC3[NA];UNC93B1[NA];RFT1[NA];HSPA5[NA];VEZT[NA];RPN1[NA];P4HB[NA];PGRMC2[NA];RPN2[NA];HSP90B1[NA];YIF1A[NA];DAD1[NA];RER1[NA];TRIM13[NA];EI24[NA];ASIC1[NA];VMP1[NA];DNAJB11[NA];PIGT[NA];PPIB[NA];DHRS7[NA];SSR3[NA];ANO6[NA];RTN3[NA];SPCS3[NA];SCD[NA];ERGIC2[NA];RCN1[NA];ACSL3[NA];SLC33A1[NA];ALDH3A2[NA];CHPT1[NA];DNAJC1[NA];TMEM209[NA];LMAN1[NA];ATP6AP2[NA];CLPTM1L[NA];RAB7A[NA];TMPO[NA];YKT6[NA];TMTC3[NA];EBP[NA];NDC1[NA];JPH1[NA];XRCC6[0.984];UBIAD1[NA];VANGL1[NA];OCLN[NA];TBC1D22B[NA];TMF1[NA];MARVELD2[NA];SLC6A15[NA];LBR[NA];PREB[NA];SOAT1[NA];BET1L[NA];VKORC1L1[NA];CAMLG[NA];SLC1A5[NA];VRK2[NA];SEC63[NA];TMEM216[NA];LEMD3[NA];APBB1[NA];COPB1[NA];SLC7A5[NA];EPHA2[NA];NUP155[NA];SLC3A2[NA];ABCE1[NA];KTN1[NA];LSG1[NA];ARHGAP1[NA];PLD3[NA];TOR1AIP2[NA];SCARB1[NA];SEC24B[NA];SENP2[NA];CCDC115[NA];EFNB1[NA];EMC8[NA];SLC6A8[NA];LNPEP[NA];TMEM214[NA];NECTIN2[NA];VAMP3[NA];MCAM[NA];UGT8[NA];ATP6AP1[NA];VAPA[NA];ITM2C[NA];CISD2[NA];TMEM87A[NA];FAM91A1[NA];VAPB[NA];HMOX2[NA];FKBP8[NA];ACBD3[NA];TOR1AIP1[NA];CKAP4[NA];CCDC47[NA];SCFD1[NA];DDRGK1[NA];EFNB2[NA];VAT1[NA];THEM6[NA];LRBA[NA];SEC23IP[NA];UNC5B[NA];RTN4[NA];CLINT1[NA];ALG9[NA];RETREG1[NA];STT3B[NA];EMC1[NA];KIAA0319L[NA];VAMP2[NA];ATP6V1F[NA];ESYT1[NA];MACO1[NA];LNPK[NA];STAM2[NA];PKMYT1[NA];GORASP2[NA];UBXN4[NA];SLC39A14[NA];VANGL2[NA];CDKAL1[NA];GOSR1[NA];EIF2AK3[NA];EMC2[NA];ANKLE2[NA];PALD1[NA];CXADR[NA];SLC19A1[NA];SUN1[NA];WDR41[NA];COPG1[NA];WDR6[NA];ATP6V0A1[NA];PDXDC1[NA];ARL6IP5[NA];UBE2J1[NA];ARFGAP2[NA];ITGB1[NA];AUP1[NA];SRPRA[NA];TMEM51[NA];EBAG9[NA];GORAB[NA];STIM1[NA];TEX2[NA];SLC6A6[NA];SYAP1[NA];SLC39A10[NA];BET1[NA];GPR108[NA];GPAT4[NA];JAG2[NA];CLCC1[NA];MTDH[NA];EMC7[NA];SLC38A1[NA];SLC30A5[NA];OSBPL11[NA];CPD[NA];PTPN1[NA];TMEM199[NA];MOSPD2[NA];MMGT1[NA];SEC23B[NA];GPAT3[NA];SEC11A[NA];CHP1[NA];UBE2G2[NA];CD99L2[NA];TFRC[NA];EMD[NA];STX5[NA];SMPD4[NA];SEC22B[NA];LRRC59[NA];BCAP31[NA];STX18[NA];RABL3[NA];VMA21[NA];TMEM115[NA];PDZD8[NA];SNAP23[NA];SLC30A6[NA];NCOA2[NA];TMEM109[NA];OSBPL8[NA];TMX1[NA];SEMA6A[NA];EPHA7[NA];EMC3[NA];SCAMP1[NA];SLC12A2[NA];GOLGA5[NA];CDCA3[NA];ARFIP1[NA];IRS4[NA];VEZT[NA];GOPC[NA];SLC38A2[NA];DSG2[NA];FZD6[NA];PTPN2[NA];CTNND1[NA];PGRMC2[NA];STEAP3[NA];TEX264[NA];STX10[NA];F11R[NA];TRIM13[NA];TMX4[NA];STAM[NA];DHRS7[NA];ANO6[NA];SSR1[NA];SLC4A7[NA];IGF2R[NA];DSC2[NA];ADGRL2[NA];MB21D2[NA];BSDC1[NA];ARFGAP3[NA];SPCS3[NA];LMAN1[NA];CD99[NA];TMEM209[NA];SRPRB[NA];TMEM9[NA];CAV1[NA];ALDH3A2[NA];DNAJC1[NA];SCYL3[NA];ARCN1[NA];SLC33A1[NA];STX7[NA];ATP6AP2[NA];LSR[NA];SLC39A6[NA];YKT6[NA];STX8[NA];APP[NA];TMPO[NA];RAB7A[NA];WDR11[NA];JPH1[NA];GPR107[NA];NDC1[NA];CYP17A1[0.999];HMOX1[0.999];CYP2E1[0.999];CYB5A[0.999];CYP2C9[0.999];FANCC[0.548];INSIG1[0.990];CYP2A6[0.999];CYP2D6[1];CYP3A4[0.999];STAT1[0.406];DERL1[0.995];DERL2[0.994];SYVN1[0.986];SRPRB[0.977];BTN2A1[0.384];UBXN6[0.004];ATL3[0.987];NDUFB9[0.996];NDUFV1[0.996];DARS2[0.852];EWSR1[0.325];PLOD1[0.971];PLOD3[0.987];VAPA[0.998];XPO1[0.934];NTRK1[0.864];TCTN2[0.543];TCTN3[0.125];EVC2[0.722];TMEM216[0.509];CTDNEP1[0.994];SNX8[0.825];RARS[0.999],0.16542,0.492040008306503,N,0.488629185,0.54222,recessive,-1.52,3.43,0.08826515,0.502739311,78.30853563,4.33906087150102e-05,0.990986712395589,0.00896989699569618,2.2234213376197e-05,0.977372524339521,0.0226052414471029,0.00282943739688939,0.993868920559181,0.00330164204392977,1.4438e-09,8.1249e-01,1.8751e-01,0.310500235275842,1.71840487874472,1.14186373256475,N,,,,,,,,,,,,,3.29E-01,0.0,0.0,0.0,0.0,0.0427316293929712,0.0007987220447284345,0.0315495207667731,0.0003993610223642173,E,N,S,N,0.986233669322359,E,Por,"cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; renal/urinary system phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); craniofacial phenotype; vision/eye phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; ",,,,,,Unknown,no info
17,ZFP92,0,,GRCh38,chrX,153418786,153418786,+,Missense_Mutation,SNP,T,T,G,novel,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,T,T,,,,,,,,,,,,,,,,c.147T>G,p.His49Gln,p.H49Q,ENST00000338647,2/4,52,49,3,63,63,0,"ZFP92,missense_variant,p.His49Gln,ENST00000338647,;U82695.10,upstream_gene_variant,,ENST00000569962,;",G,ENSG00000189420,ENST00000338647,Transcript,missense_variant,148,147,49,H/Q,caT/caG,,,,1,ZFP92,HGNC,12865,protein_coding,YES,CCDS59177.1,ENSP00000462054,ZFP92_HUMAN,,UPI000052B478,,deleterious(0.03),possibly_damaging(0.857),2/4,,"PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF97,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637",,,,,,,,,,,,,,,,,MODERATE,,SNV,,,,,,,,,,,,,,PASS,NONE,MUTECT|MUSE,AGCCATTTGGT,,2,H,Q,,X,152684244,X,152337438,49,ZFP92,ENSG00000189420,ENST00000338647,ENSP00000462054,A6NM28,ZFP92_HUMAN,c.147T>G,p.H49Q,c.147T>G,p.His49Gln,c.147T>G,p.His49Gln,principal1,Y,5,YES,+,CAT,3,2,T,T/T,T/T,T/T,T/T,,,,0.003,0.76473,D,0.992,0.64738,D,0.913,0.64886,D,,,,,1,0.08975,N,simple_aae,H49Q,1.85,0.49092,L,4.63,0.01817,T,,,,0.428,0.46742,,,,,,,,0.22511092,0.39332,T,0.088651,0.75174,D,,,.;,,.;,.;,.;,0.405336283486,0.40149,0.1205226889773583,0.11979,2.0305426451,0.94091,0.41259855032,0.26816,T,0.016147,0.13402,T,-0.41136,0.01946,T,-0.828667,0.01286,T,,,,0.079792,0.00588,T,0.107666,0.25458,0.3734974,0.62536,0.107666,0.25458,0.3734974,0.62535,-4.848,0.61846,T,,,,,,,,,,,,,,0.7165,0.73641,P,.;,.;,.;,.;,.;,.;,2.026021,0.31121,19.45,1.122831,0.18514,14.21,0.76689581398431395,0.11570,0.01568,0.05122,N,AEFDBI,,,,,,,,,,0.999990501181251,0.74766,,,,,,,,,,,,,,,3.94,-7.07,0.01409,-0.894000,0.04230,,,-0.122000,0.13826,0.000000,0.06391,0.006000,0.19429,0.978000,0.57271,0.0:0.8342:0.0:0.1658,19.6434,0.95762,212,0.91760,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box,,,,ZFP92,ZFP92,ENSG00000189420,X,,ZNF897,A6NM28,ZFP92_HUMAN,139735,CCDS59177,NM_001136273,uc011myo.3,,618355,ZFP92 zinc finger protein,,,,,,,FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.; ,,,,,,,,,,regulation of transcription by RNA polymerase II,nucleus,"DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding",,,,,,,0.07626,0.237914741039276,N,0.397169972,,,,,0.4155578,,,0.529624187284892,0.409621858592771,0.0607539541223366,0.522155869866815,0.41424715767674,0.0635969724564448,0.542301153910131,0.392970118617989,0.0647287274718807,6.3824e-01,3.5571e-01,6.0568e-03,,,,,39.84066,1.17323,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,,0.0047923322683706,0.0,0.0003993610223642173,0.0,0.0139776357827476,0.0003993610223642173,0.0051916932907348,0.0003993610223642173,,N,N,N,0.53917561279198,E,Zfp92,,,,,,0.6328700749544881,Unknown,tools
18,P2RY10,0,,GRCh38,chrX,78961192,78961192,+,Silent,SNP,C,C,T,,,TCGA-A1-A0SB,TCGA-A1-A0SB-10B-01D-A142-09,C,C,,,,,,,,,,,,,,,,c.672C>T,p.%3D,p.S224S,ENST00000171757,4/4,55,45,10,64,64,0,"P2RY10,synonymous_variant,p.%3D,ENST00000544091,;P2RY10,synonymous_variant,p.%3D,ENST00000171757,;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;",T,ENSG00000078589,ENST00000171757,Transcript,synonymous_variant,952,672,224,S,tcC/tcT,"COSM1491292,COSM3563627",,,1,P2RY10,HGNC,19906,protein_coding,YES,CCDS14442.1,ENSP00000171757,P2Y10_HUMAN,,UPI0000050471,,,,4/4,,"PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF6,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321",,,,,,,,,,,"1,1",,,,,,LOW,,SNV,,,"1,1",,,,,,,,,,,PASS,NONE,MUTECT|RADIA|SOMATICSNIPER|MUSE|VARSCANS,ATATCCTTGAG,,5,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,P2RY10,P2RY10,ENSG00000078589,X,,P2Y10,O00398,P2Y10_HUMAN,27334,CCDS14442,NM_001324218,uc004edf.4,300529,300529,P2Y receptor family member 10,,,,"Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;P2Y receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling",hsa04080,Neuroactive ligand-receptor interaction,FUNCTION: Putative receptor for purines coupled to G-proteins.; ,,,,,,,Rheumatoid arthritis[24390342;24390342];,,,G protein-coupled receptor signaling pathway;positive regulation of Rho protein signal transduction;G protein-coupled purinergic nucleotide receptor signaling pathway;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway,plasma membrane;integral component of plasma membrane,G protein-coupled receptor activity;G protein-coupled purinergic nucleotide receptor activity,Weakly expressed in blood leukocytes. {ECO:0000269|PubMed:11004484}.;,pancreas;placenta;germinal center;blood;unclassifiable (Anatomical System);,trigeminal ganglion;,,,,0.33437,0.431729257106781,N,0.569154823,0.11285,,-0.01,53.19,0.1634456,-0.444514637,26.77514793,0.690389561601064,0.291483213132493,0.0181272252664432,0.671360959255584,0.307232133511767,0.0214069072326487,0.688955754588704,0.289278623951956,0.0217656214593402,1.5937e-01,7.7983e-01,6.0800e-02,,,,,7.38443,0.27475,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,Medium,1.49E-01,0.0,0.0,0.0,0.0,0.0039936102236421,0.0,0.0039936102236421,0.0,,N,N,N,0.114371359811310,N,P2ry10,,,,,,,Unknown,no info