Chrom Chromosome Start Start Coordinates End End Coordinates Type DELetion, INSertion, DUPlication Name Identifier CADD-SV-score Final CADD-SV score Raw-Score_span Raw model score - span only Raw-Score_flank Raw model score - flank only CADD_max Maximum of CADD SNV scores CADD_sum Sum of top 10% CADD SNV scores PhastCons100_max Maximum of Sequence Conservation of 100 species (excl humans) PhastCons100_sum Sum of top 10% Sequence Conservation of 100 species (excl humans) PhastCons30_max Maximum of Sequence Conservation of 30 species (excl humans) PhastCons30_sum Sum of top 10% Sequence Conservation of 30 species (excl humans) PhastCons20_max Maximum of Sequence Conservation of 20 species (excl humans) PhastCons20_sum Sum of top 10% Sequence Conservation of 20 species (excl humans) CADD_count Number of bases in top 10% CADD SNV score distribution CCR Constrained coding regions E1_poised ChromHMM state E1 poised E2_repressed ChromHMM state E2 repressed E3_dead ChromHMM state E3 dead E4_dead ChromHMM state E4 dead E5_repressed ChromHMM state E5 repressed E6_repressed ChromHMM state E6 repressed E7_weak ChromHMM state E7 weak E8_gene ChromHMM state E8 gene E9_gene ChromHMM state E9 gene E10_gene ChromHMM state E10 gene E11_gene ChromHMM state E11 gene E12_distal ChromHMM state E12 distal E13_distal ChromHMM state E13 distal E14_distal ChromHMM state E14 distal E15_weak ChromHMM state E15 weak E16_tss ChromHMM state E16 Transcription Start Site E17_proximal ChromHMM state E17 proximal E18_proximal ChromHMM state E18 proximal E19_tss ChromHMM state E19 Transcription Start Site E20_poised ChromHMM state E20 poised E21_dead ChromHMM state E21 dead E22_repressed ChromHMM state E22 repressed E23_weak ChromHMM state E23 weak E24_distal ChromHMM state E24 distal E25_distal ChromHMM state E25 distal nr_ctcf_BS Number of CTCF Binding Sites ctcf_nr_bases Number of bases in CTCF binding sites ctcf_fraction Fraction of CTCF bases DI_min 3D Genome Directionality Index (from HiC) min DI_max 3D Genome Directionality Index (from HiC) max DNase-seq_max Encode DNase peaks (open chromatin) max value DNase-seq_sum Encode DNase peaks (open chromatin) sum H2AFZ_max Encode H2AFZ Histon Modification max value H2AFZ_sum Encode H2AFZ Histon Modification sum H3K27ac_max Encode H3K27ac Modification max value H3K27ac_sum Encode H3K27ac Histon Modification sum H3K27me3_max Encode H3K27me3 Histon Modification max value H3K27me3_sum Encode H3K27me3 Histon Modification sum H3K36me3_max Encode H3K36me3 Histon Modification max value H3K36me3_sum Encode H3k36me3 Histon Modification sum H3K4me1_max Encode H3K4me1 Histon Modification max value H3K4me1_sum Encode H3K4me1 Histon Modification sum H3K4me2_max Encode H3K4me2 Histon Modification max value H3K4me2_sum Encode H3K4me2 Histon Modification sum H3K4me3_max Encode H3K4me3 Histom Modification max value H3K4me3_sum Encode H3K4me3 Histon Modification sum H3K79me2_max Encode H3K79me2 Histon Modification max value H3K79me2_sum Encode H3K79me2 Histon Modification sum H3K9ac_max Encode H3K9ac Histon Modification max value H3K9ac_sum Encode H3K9ac Histon Modification sum H3K9me3_max Encode H3K9me3 Histon Modification max value H3K9me3_sum Encode H3K9me3 Histon Modification sum H4K20me1_max Encode H4K20me1 Histon Modification max value H4k20me1_sum Encode H4K20me1 Histon Modification sum totalRNA-seq_max Encode RNA expression max value totalRNA-seq_sum Encode RNA expression sum EP_intra Enhancer Promotor Link - in between EP_boundary Enhancer Promotor Link - overlap EP_ext Enhancer Promotor Link - in flank EP_distance Distance to next Enhancer Promotor Link FIRE_gm12878_max Frequently Interacting Regulatory Regions (FIRE) in GM12878 cells max value FIRE_gm12878_min Frequently Interacting Regulatory Regions (FIRE) in GM12878 cells min value FIRE_msc_max Frequently Interacting Regulatory Regions (FIRE) in MSC cells max value FIRE_msc_min Frequently Interacting Regulatory Regions (FIRE) in MSC cells min value FIRE_mes_max Frequently Interacting Regulatory Regions (FIRE) in MES cells max value FIRE_mes_min Frequently Interacting Regulatory Regions (FIRE) in MES cells min value FIRE_imr90_max Frequently Interacting Regulatory Regions (FIRE) in IMR90 cells max value FIRE_imr90_min Frequently Interacting Regulatory Regions (FIRE) in IMR90 cells min value FIRE_h1_max Frequently Interacting Regulatory Regions (FIRE) in H1 cells max value FIRE_h1_min Frequently Interacting Regulatory Regions (FIRE) in H1 cells max value perc_gc GC Content averaged from 5bp track exon Base-pair overlap with exon annotation transcript Base-pair overlap with transcript annotation gene Base-pair overlap with gene annotation start_codon Base-pair overlap with start codon annotation stop_codon Base-pair overlap with stop codon annotation 3utr Base-pair overlap with 3'UTR annotation 5utr Base-pair overlap with 5'UTR annotation cds Base-pair overlap with coding sequence annotation gerp_max Max GERP evolutionary score gerp_count Number of Top 10% GERP evolutionary score bp A549_nested_intra A549 cells nested Topologically Associating Domain (TAD) - in between A549_nested_boundary A549 cells nested Topologically Associating Domain (TAD) - overlap A549_nested_ext A549 cells nested Topologically Associating Domain (TAD) - in flank A549_nested_dist Distance to A549 cells nested Topologically Associating Domain A549_tad_intra A549 cells Topologically Associating Domain (TAD) - in between A549_tad_boundary A549 cells Topologically Associating Domain (TAD) - overlap A549_tad_ext A549 cells topologically associating Domain (TAD) - in flank A549_tad_dist Distance to A549 cells Topologically Associating Domain (TAD) caki2_nested_intra CAKI2 cells nested Topologically Associating Domain (TAD) - in between caki2_nested_boundary CAKI2 cells nested Topologically Associating Domain (TAD) - overlap caki2_nested_ext CAKI2 cells nested Topologically Associating Domain (TAD) - in flank caki2_nested_dist Distance to CAKI2 cells nested Topologically Associating Domain (TAD) caki2_tad_intra CAKI2 cells Topologically Associating Domain (TAD) - in between caki2_tad_boundary CAKI2 cells Topologically associating Domain (TAD) - overlap caki2_tad_ext Topologically Associating Domain (TAD) - in flank caki2_tad_dist Distance to CAKI2 cells Topologically Associating Domain (TAD) escTAD_intra ESC Topologically Associating Domain (TAD) - in between escTAD_boundary ESC Topologically Associating Domain (TAD) - overlap escTAD_ext ESC Topologically Associating Domain (TAD) - in fank escTAD_distance Distance to ESC Topologically Associating Domain (TAD) microsyn_intra Microsyntenic region - in between microsyn_boundary Microsyntenic region - overlap microsyn_ext Microsyntenic region - in flank microsyn_distance Distance to Microsyntenic region MPC Regional missense constraint metric (Samocha KE et al. 2017) pLI pLI - loss of function variant gene tolerance score exon_dist Distance to next exon gene_dist Distance to next gene start_codon_dist Distance to next start codon remapTF Transcription Factor motif overlap from ReMap f5_enhancers Fantom 5 enhancer annotation DDD_HaploInsuf Deciphering Developmental Disorders Happloinsufficiency score deepC_saliencie Computational prediction on 3D genome impact from DeepC nr_uc_elements Ultraconserved elements defined by GERP nr_uc_bases Base pairs in ultraconserved elements defined by GERP uc_fraction Proportion of bases covered by ultraconserved elements defined by GERP LINSIGHT LINSIGHT non-coding evolutionary constraint score