species	homo_sapiens
assembly	GRCh38
sift	b
polyphen	b
source_gencode	GENCODE 49
source_polyphen	2.2.3
source_genebuild	GENCODE49
source_sift	6.2.1
source_assembly	GRCh38.p14
variation_cols	chr,variation_name,failed,somatic,start,end,allele_string,strand,clin_sig,phenotype_or_disease,clin_sig_allele,clinical_impact,pubmed,var_synonyms,AF,AFR,AMR,EAS,EUR,SAS,gnomADe,gnomADe_AFR,gnomADe_AMR,gnomADe_ASJ,gnomADe_EAS,gnomADe_FIN,gnomADe_NFE,gnomADe_REMAINING,gnomADe_SAS,gnomADe_MID,gnomADg,gnomADg_AFR,gnomADg_AMI,gnomADg_AMR,gnomADg_ASJ,gnomADg_EAS,gnomADg_FIN,gnomADg_MID,gnomADg_NFE,gnomADg_REMAINING,gnomADg_SAS
source_HGMD-PUBLIC	20204
source_COSMIC	101
source_dbSNP	156
source_ClinVar	202502
source_1000genomes	phase3
source_gnomADe	v4.1
source_gnomADg	v4.1
var_type	tabix
regulatory	1
cell_types	A549_(m,_58_y),A673_(f,_15_y),AG04450_(m,_12_w),BJ_(m),B_cell_(f),B_cell_(m),CD14-positive_monocyte_(f),CD14-positive_monocyte_(x),Caco-2_(m,_72_y),DND-41_(m,_13_y),GM06990_(f),GM12878_(f),GM23248_(m,_53_y),GM23338_(m,_53_y),H1_(m),H7-hESC_(f),H9_(f,_5_dpf),HCT116_(m,_48_y),HeLa-S3_(f,_31_y),IMR-90_(f,_16_w),K562_(f,_53_y),Karpas-422_(f,_72_y),MCF-7_(f,_69_y),MM.1S_(f,_42_y),NCI-H929_(f,_62_y),NT2/D1_(m,_22_y),OCI-LY7_(m,_48_y),PC-3_(m,_62_y),PC-9,Panc1_(m,_56_y),Peyer's_patch_(f,_53_y),Peyer's_patch_(m,_37_y),SK-N-MC_(f,_14_y),T-cell,adrenal_gland,adrenal_gland_(f,_53_y),adrenal_gland_(m,_37_y),adrenal_gland_(m,_54_y),ascending_aorta_(f,_51_y),ascending_aorta_(f,_53_y),astrocyte,body_of_pancreas_(f,_53_y),body_of_pancreas_(m,_37_y),body_of_pancreas_(m,_54_y),brain_(x),breast_epithelium_(f,_51_y),breast_epithelium_(f,_53_y),bronchial_epithelial_cell,cardiac_muscle_cell,common_myeloid_progenitor,_CD34-positive_(m,_42_y),common_myeloid_progenitor,_CD34-positive_(x),esophagus_muscularis_mucosa_(m,_37_y),esophagus_squamous_epithelium_(m,_37_y),fibroblast_of_dermis,fibroblast_of_lung,fibroblast_of_mammary_gland_(f),foreskin_fibroblast_(m),gastrocnemius_medialis_(f,_53_y),gastrocnemius_medialis_(m,_37_y),gastrocnemius_medialis_(m,_54_y),gastroesophageal_sphincter_(f,_53_y),heart,heart_left_ventricle_(f,_51_y),heart_left_ventricle_(f,_53_y),hepatocyte_(f,_5_dpf),iPS_DF_19.11_(m),iPS_DF_6.9_(m),keratinocyte_(f),kidney_(f,_120_dpf),kidney_epithelial_cell,large_intestine_(m,_108_dpf),lung,mammary_epithelial_cell_(f),mesenchymal_stem_cell_(m),mesendoderm_(m),muscle_of_leg_(x),muscle_of_trunk_(f),myotube,natural_killer_cell_(m),neural_progenitor_cell_(f,_5_dpf),neuronal_stem_cell_(m),placenta_(x),prostate_gland_(m,_37_y),psoas_muscle_(m),right_atrium_auricular_region_(f,_51_y),right_lobe_of_liver_(f,_53_y),sigmoid_colon_(f,_53_y),sigmoid_colon_(m,_37_y),skeletal_muscle_myoblast,small_intestine_(m,_108_dpf),spleen_(f,_53_y),stomach,stomach_(f,_51_y),stomach_(f,_53_y),stomach_(m,_37_y),testis_(m,_37_y),thoracic_aorta_(m,_37_y),thoracic_aorta_(m,_54_y),thymus_(x),thyroid_gland_(f,_51_y),thyroid_gland_(f,_53_y),thyroid_gland_(m,_37_y),thyroid_gland_(m,_54_y),tibial_artery_(f,_53_y),tibial_artery_(m,_37_y),tibial_nerve_(m,_37_y),tibial_nerve_(m,_54_y),transverse_colon_(f,_51_y),trophoblast_cell_(m),upper_lobe_of_left_lung_(f,_51_y),upper_lobe_of_left_lung_(m,_37_y),vagina_(f,_53_y)
source_regbuild	1.0
