Analysis Output | Sample Summary Reports | Normal Sample Summary | Variants Summary

Variants Summary

Table 10 Small Variants Summary
Statistic	Definition
Total Passing	Total number of variants present in the data set that pass the quality filters.
Percent Found in dbSNP	100*(number of variants in dbSNP/number of variants).
Het/Hom Ratio	Number of heterozygous/number of homozygous variants.
Ts/Tv Ratio	Transition rate of SNVs that pass the quality filter/by transversion rate of SNVs that pass the quality filters.

Table 11 Variants by Sequence Context
Statistic	Definition
Number in Genes	The number of variants in a gene.
Number in Exons	The number of variants in an exon.
Number in Coding Regions	The number of variants in a coding region.
Number in UTR Region	The number of variants in an untranslated region (UTR).
Number in Mature miRNA	The number of variants in a mature miRNA.
Splice Site Region	The number of variants in a splice site region.

Table 12 Variants by Consequence
Statistic	Definition
Frameshift	The number of variants that cause a frameshift.
Non-synonymous	The number of variants that cause an amino acid change in a coding region.
Synonymous	The number of variants within a coding region but do not cause an amino acid change.
Stop Gained	The number of variants that cause an additional stop codon.
Stop Lost	The number of variants that cause the loss of a stop codon.