Table 4.

Putative recessive loss of function candidate gene with two rare protein disruptive variants.

GENE	CHR	POS	REF	ALT	CONSEQUENCE	SAMPLE ID
ZSCAN1*	19	58549663	TC	T	frameshift variant	Y591
ZSCAN1*	19	58549495	G	A	stop-gain variant	Y591

CHR and POS show the GRCh37 coordinate of the variant; the REF/ALT columns shows the reference and alternate alleles; the CONSEQUENCE is the type of the protein disruption; the SAMPLE ID column contains the sample name in which the given variant was found in a heterozygote state.

*denotes gene without disease association in MalaCards and OMIM.