在vcf2maf中，對splice_site 和 splice_region都做了明確的說明。
splice_region
return "Splice_Region" if( $effect eq 'splice_region_variant' )
splice_region_variant => 8, # 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
Splice_region: 變異發生在splice site區域內或者外顯子的1-3鹼基處或者內含子的3-8鹼基處
Splice_Site
return "Splice_Site" if( $effect =~ /^(splice_acceptor_variant|splice_donor_variant|transcript_ablation|exon_loss_variant)$/ );
Splice_Site 又細分到 splice_acceptor_variant、splice_donor_variant、transcript_ablation和exon_loss_variant
splice_acceptor_variant => 2, # A splice variant that changes the 2 base region at the 3' end of an intron
Splice_acceptor_variant 在intron的3'端2鹼基范圍內的變異
splice_donor_variant => 2, # A splice variant that changes the 2 base region at the 5' end of an intron
Splice_donor_variant 在內含子5'端2鹼基范圍內的變異
exon_loss_variant => 1, # A sequence variant whereby an exon is lost from the transcript
Exon_loss_variant 轉錄本中的一個外顯子丟失
transcript_ablation => 1, # A feature ablation whereby the deleted region includes a transcript feature
Transcript_ablation 消失區域包括轉錄特征的特征消融