HasUnknownX

A proband variant is assigned the category HasUnknownX if all of the following are true:

• The proband is male.

• The variant is on the X chromosome.

• The variant is hemizygous (non-reference).

• The father's genotype at this variant's position is hemizygous reference.

• The mother's genotype does not include the proband variant's allele.

• The variant's functional annotations include at least one in unknown_x_functional_types.

• The frequency of the proband's minor allele is less than unknown_x_max_population_allele_frequency.