Table 4.
Region | Modification | SNPs | InDels | |
---|---|---|---|---|
Non-Coding | Intergenic region | 143 | 14 | |
Upstream 5 k | 2537 | 683 | ||
Downstream 5 k | 695 | 204 | ||
Coding | UTR | 5′ UTR | 88 | 23 |
5′ UTR premature start gained | 8 | – | ||
3′ UTR | 151 | 46 | ||
Intron | Intron | 399 | 96 | |
Splice region | 19 | 2 | ||
Splice acceptor site | 2 | – | ||
Splice donor site | 1 | – | ||
Exon | Disruptive + In-frame Deletion | – | 3 | |
Disruptive + In-frame Insertion | – | 2 | ||
Frameshift | – | 23 | ||
In-frame Deletion | – | 5 | ||
In-frame Insertion | – | 4 | ||
Nonsynonymous modification | 248 | – | ||
Start lost | 1 | – | ||
Stop retained | 1 | – | ||
Stop gained | 5 | – | ||
Synonymous modification | 142 | – | ||
Total | 4440 | 1105 |
Intergenic region: the variant is in an intergenic region; Upstream 5 k: SNPs detected up to 5 kb upstream of the coding region; Downstream 5 k: SNPs detected up to 5 kb downstream of the coding region; 5′ UTR: hits in the 5’UTR; 5′ UTR premature start gained: a variant in the 5’UTR produces a three-base sequence that can be a START codon; 3′ UTR: variant hits in the 3’UTR; Intron: SNPs detected within an intron; Splice region: 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 acceptor site: the variant hits a splice acceptor site; Disruptive + In-frame Deletion: one codon is changed, and one or more codons are deleted; Disruptive + In-frame Insertion: one codon is changed, and one or many codons are inserted; Frameshift: insertion or deletion causes a frameshift; In-frame Deletion: one or many codons are deleted; In-frame Insertion: one or many codons are inserted; Start lost: variant causes start codon to be mutated into a nonstart codon; Stop G: variant causes a STOP codon; Nonsynonymous modification: SNP variants cause a codon that produces a different amino acid; within the coding region; Synonymous modification: variant causes a codon that produces the same amino acid