A compound heterozygote is a pair of putatively deleterious variants on the same gene.

A proband variant is assigned the category InCompoundHeterozygote if both of the following are true:

  • The variant's functional annotations include at least one of the types in compound_heterozygote_functional_types.

  • The variant is in the same gene as another such variant.

The variants can be either homozygous or heterozygous. The trio analysis later determines whether a variant is putatively deleterious by examining the existing functional annotations associated with the variant.