STATISTICS ON SNPEFF ANNOTATION Total number of probes: 485015 Number of probes annotated near/in genes 107746 (22.21%) Distribitions of SNPeff annotations out of all probes: frameshift_variant&stop_lost&splice_region_variant 4 (0.00%) HIGH HIGH frameshift_variant&stop_gained 10 (0.00%) HIGH HIGH disruptive_inframe_insertion 35 (0.01%) MODERATE intergenic_region 376252 (77.58%) MODIFIER splice_acceptor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH LOW frameshift_variant&splice_region_variant 9 (0.00%) HIGH LOW frameshift_variant&start_lost 2 (0.00%) HIGH HIGH stop_lost&splice_region_variant 25 (0.01%) HIGH LOW initiator_codon_variant 4 (0.00%) LOW stop_gained 395 (0.08%) HIGH splice_acceptor_variant&intron_variant 65 (0.01%) HIGH MODIFIER splice_acceptor_variant&splice_region_variant&disruptive_inframe_deletion&intron_variant 1 (0.00%) HIGH LOW stop_retained_variant 3 (0.00%) LOW splice_donor_variant&intron_variant 67 (0.01%) HIGH MODIFIER frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH HIGH conservative_inframe_deletion 37 (0.01%) MODERATE missense_variant 16677 (3.44%) MODERATE missense_variant&splice_region_variant 219 (0.05%) MODERATE LOW splice_region_variant&stop_retained_variant 13 (0.00%) LOW LOW splice_region_variant&synonymous_variant 174 (0.04%) LOW LOW splice_donor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH LOW conservative_inframe_insertion 22 (0.00%) MODERATE synonymous_variant 13521 (2.79%) LOW splice_donor_variant&splice_region_variant&disruptive_inframe_deletion&intron_variant 2 (0.00%) HIGH LOW splice_region_variant&intron_variant 997 (0.21%) LOW MODIFIER stop_lost 11 (0.00%) HIGH start_lost 20 (0.00%) HIGH frameshift_variant&splice_donor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH HIGH stop_gained&splice_region_variant 9 (0.00%) HIGH LOW disruptive_inframe_deletion 74 (0.02%) MODERATE downstream_gene_variant 17927 (3.70%) MODIFIER upstream_gene_variant 16674 (3.44%) MODIFIER frameshift_variant 399 (0.08%) HIGH intron_variant 38598 (7.96%) MODIFIER intragenic_variant 1748 (0.36%) MODIFIER MODIFIER: 451199 93.04% LOW: 13528 2.79% MODERATE: 16845 3.48% HIGH: 825 0.16% ALT: 1601 0.33% Distribitions of SNPeff annotations out of annotated probes: frameshift_variant&stop_lost&splice_region_variant 4 (0.00%) HIGH HIGH frameshift_variant&stop_gained 10 (0.01%) HIGH HIGH disruptive_inframe_insertion 35 (0.03%) MODERATE splice_acceptor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH LOW frameshift_variant&splice_region_variant 9 (0.01%) HIGH LOW frameshift_variant&start_lost 2 (0.00%) HIGH HIGH stop_lost&splice_region_variant 25 (0.02%) HIGH LOW initiator_codon_variant 4 (0.00%) LOW stop_gained 395 (0.37%) HIGH splice_acceptor_variant&intron_variant 65 (0.06%) HIGH MODIFIER splice_acceptor_variant&splice_region_variant&disruptive_inframe_deletion&intron_variant 1 (0.00%) HIGH LOW stop_retained_variant 3 (0.00%) LOW splice_donor_variant&intron_variant 67 (0.06%) HIGH MODIFIER frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH HIGH conservative_inframe_deletion 37 (0.03%) MODERATE missense_variant 16677 (15.48%) MODERATE missense_variant&splice_region_variant 219 (0.20%) MODERATE LOW splice_region_variant&stop_retained_variant 13 (0.01%) LOW LOW splice_region_variant&synonymous_variant 174 (0.16%) LOW LOW splice_donor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH LOW conservative_inframe_insertion 22 (0.02%) MODERATE synonymous_variant 13521 (12.55%) LOW splice_donor_variant&splice_region_variant&disruptive_inframe_deletion&intron_variant 2 (0.00%) HIGH LOW splice_region_variant&intron_variant 997 (0.93%) LOW MODIFIER stop_lost 11 (0.01%) HIGH start_lost 20 (0.02%) HIGH frameshift_variant&splice_donor_variant&splice_region_variant&intron_variant 1 (0.00%) HIGH HIGH stop_gained&splice_region_variant 9 (0.01%) HIGH LOW disruptive_inframe_deletion 74 (0.07%) MODERATE downstream_gene_variant 17927 (16.64%) MODIFIER upstream_gene_variant 16674 (15.48%) MODIFIER frameshift_variant 399 (0.37%) HIGH intron_variant 38598 (35.82%) MODIFIER intragenic_variant 1748 (1.62%) MODIFIER MODIFIER: 74947 69.56% LOW: 13528 12.55% MODERATE: 16845 15.63% HIGH: 825 0.77% ALT: 1601 1.47%