STATISTICS ON SNPEFF ANNOTATION Total number of probes: 200000 Number of probes annotated near/in genes 48054 (24.03%) Distribitions of SNPeff annotations out of all probes: splice_region_variant&synonymous_variant 60 (0.03%) LOW LOW frameshift_variant&stop_lost&splice_region_variant 1 (0.00%) HIGH HIGH frameshift_variant&stop_gained 3 (0.00%) HIGH HIGH disruptive_inframe_insertion 15 (0.01%) MODERATE intergenic_region 151946 (75.97%) MODIFIER splice_donor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH LOW frameshift_variant&splice_region_variant 2 (0.00%) HIGH LOW frameshift_variant&start_lost 1 (0.00%) HIGH HIGH conservative_inframe_insertion 12 (0.01%) MODERATE synonymous_variant 5873 (2.94%) LOW stop_lost&splice_region_variant 8 (0.00%) HIGH LOW splice_donor_variant&splice_region_variant&disruptive_inframe_deletion&intron_variant 1 (0.00%) HIGH LOW stop_gained 149 (0.07%) HIGH splice_acceptor_variant&intron_variant 25 (0.01%) HIGH MODIFIER splice_region_variant&intron_variant 303 (0.15%) LOW MODIFIER stop_retained_variant 1 (0.00%) LOW stop_lost 3 (0.00%) HIGH start_lost 9 (0.00%) HIGH splice_donor_variant&intron_variant 21 (0.01%) HIGH MODIFIER stop_gained&splice_region_variant 3 (0.00%) HIGH LOW conservative_inframe_deletion 14 (0.01%) MODERATE disruptive_inframe_deletion 22 (0.01%) MODERATE downstream_gene_variant 8087 (4.04%) MODIFIER missense_variant 6433 (3.22%) MODERATE upstream_gene_variant 7251 (3.63%) MODIFIER frameshift_variant 133 (0.07%) HIGH intron_variant 18574 (9.29%) MODIFIER missense_variant&splice_region_variant 73 (0.04%) MODERATE LOW intragenic_variant 966 (0.48%) MODIFIER splice_region_variant&stop_retained_variant 10 (0.01%) LOW LOW MODIFIER: 186824 93.41% LOW: 5874 2.94% MODERATE: 6496 3.26% HIGH: 294 0.14% ALT: 512 0.25% Distribitions of SNPeff annotations out of annotated probes: splice_region_variant&synonymous_variant 60 (0.12%) LOW LOW frameshift_variant&stop_lost&splice_region_variant 1 (0.00%) HIGH HIGH frameshift_variant&stop_gained 3 (0.01%) HIGH HIGH disruptive_inframe_insertion 15 (0.03%) MODERATE splice_donor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH LOW frameshift_variant&splice_region_variant 2 (0.00%) HIGH LOW frameshift_variant&start_lost 1 (0.00%) HIGH HIGH conservative_inframe_insertion 12 (0.02%) MODERATE synonymous_variant 5873 (12.22%) LOW stop_lost&splice_region_variant 8 (0.02%) HIGH LOW splice_donor_variant&splice_region_variant&disruptive_inframe_deletion&intron_variant 1 (0.00%) HIGH LOW stop_gained 149 (0.31%) HIGH splice_acceptor_variant&intron_variant 25 (0.05%) HIGH MODIFIER splice_region_variant&intron_variant 303 (0.63%) LOW MODIFIER stop_retained_variant 1 (0.00%) LOW stop_lost 3 (0.01%) HIGH start_lost 9 (0.02%) HIGH splice_donor_variant&intron_variant 21 (0.04%) HIGH MODIFIER stop_gained&splice_region_variant 3 (0.01%) HIGH LOW conservative_inframe_deletion 14 (0.03%) MODERATE disruptive_inframe_deletion 22 (0.05%) MODERATE downstream_gene_variant 8087 (16.83%) MODIFIER missense_variant 6433 (13.39%) MODERATE upstream_gene_variant 7251 (15.09%) MODIFIER frameshift_variant 133 (0.28%) HIGH intron_variant 18574 (38.65%) MODIFIER missense_variant&splice_region_variant 73 (0.15%) MODERATE LOW intragenic_variant 966 (2.01%) MODIFIER splice_region_variant&stop_retained_variant 10 (0.02%) LOW LOW MODIFIER: 34878 72.58% LOW: 5874 12.22% MODERATE: 6496 13.52% HIGH: 294 0.62% ALT: 512 1.05%