splicing_variant splice_region_variant A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. snpEff:SPLICE_SITE_BRANCH sequence ANNOVAR:splicing SO:0001630 http://snpeff.sourceforge.net/SnpEff_manual.html VEP:splice_region_variant Jannovar:splice_region_variant http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences 2010-03-24T09:46:02Z EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron. VAAST:splice_region_variant snpEff:SPLICE_SITE_REGION kareneilbeck splice region variant snpEff:SPLICE_SITE_BRANCH_U12