在vcf2maf中，对splice_site 和 splice_region都做了明确的说明。
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: 变异发生在splice site区域内或者外显子的1-3碱基处或者内含子的3-8碱基处
Splice_Site
return "Splice_Site" if( $effect =~ /^(splice_acceptor_variant|splice_donor_variant|transcript_ablation|exon_loss_variant)$/ );
Splice_Site 又细分到 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碱基范围内的变异
splice_donor_variant => 2, # A splice variant that changes the 2 base region at the 5' end of an intron
Splice_donor_variant 在内含子5'端2碱基范围内的变异
exon_loss_variant => 1, # A sequence variant whereby an exon is lost from the transcript
Exon_loss_variant 转录本中的一个外显子丢失
transcript_ablation => 1, # A feature ablation whereby the deleted region includes a transcript feature
Transcript_ablation 消失区域包括转录特征的特征消融