Table 3.

Twenty-eight types of genotype transitions that DelSIEVE is able to identify, with their interpretation as mutation events

Genotype transition	Mutation event	Identifiable by
		DelSIEVE	SIEVE
$0/0\to 0/1$	Single point mutation	Yes	Yes
$0/0\to 1/1$	Coincident homozygous double point mutation	Yes	Yes
$0/0\to 1/1^{\prime }$	Coincident heterozygous double point mutation	Yes	Yes
$0/1\to 0/0$	Single back mutation	Yes	Yes
$1/1\to 0/1$	Single back mutation	Yes	Yes
$1/1^{\prime }\to 0/1$	Single back mutation	Yes	Yes
$1/1\to 0/0$	Coincident double back mutation	Yes	Yes
$1/1^{\prime }\to 0/0$	Coincident double back mutation	Yes	Yes
$0/1\to 1/1$	Homozygous single point mutation addition	Yes	Yes
$0/1\to 1/1^{\prime }$	Heterozygous single point mutation addition	Yes	Yes
$1/1^{\prime }\to 1/1$	Homozygous substitute single point mutation	Yes	Yes
$1/1\to 1/1^{\prime }$	Heterozygous substitute single point mutation	Yes	Yes
$0/0\to \text{0/-}$	Single deletion (not LOH)	Yes	No
$1/1\to \text{1/-}$	Single deletion (not LOH)	Yes	No
$0/1\to \text{0/-}$	Single deletion (LOH)	Yes	No
$0/1\to \text{1/-}$	Single deletion (LOH)	Yes	No
$1/1^{\prime }\to \text{1/-}$	Single deletion (LOH)	Yes	No
$0/0\to \text{1/-}$	Coincident deletion and point mutation	Yes	No
$1/1\to \text{0/-}$	Coincident deletion and back mutation	Yes	No
$1/1^{\prime }\to \text{0/-}$	Coincident deletion and back mutation	Yes	No
$\text{0/-}\to \text{1/-}$	Single deletion point mutation addition	Yes	No
$\text{1/-}\to \text{0/-}$	Single deletion back mutation addition	Yes	No
$\text{0/-}\to \text{-}$	Single deletion addition	Yes	No
$\text{1/-}\to \text{-}$	Single deletion addition	Yes	No
$0/0\to \text{-}$	Coincident double deletions	Yes	No
$0/1\to \text{-}$	Coincident double deletions	Yes	No
$1/1\to \text{-}$	Coincident double deletions	Yes	No
$1/1^{\prime }\to \text{-}$	Coincident double deletions	Yes	No

The genotype transitions correspond to possible changes of genotypes on a branch from the parent node to the child node. If any of these events occurs on independent branches of the phylogenetic tree, it is also considered as a parallel evolution event. The first 12 genotype transitions are also identifiable with SIEVE. LOH in the table represents loss of heterozygosity