Table 5.

Rare variants identified in the chromosome 12q locus, linked with HT

SNV	Position	T	U	P value	Transcript	Location of SNV	Common allele	Rare variant
HT12.1001	95,672,340	5	0	0.02535	NR_077225:PGAM1P5*	exonic	A	C
HT12.1002	87,330,962	0	4	0.0455	NR_135020:LOC105369879	exonic	C	A
HT12.1003	95,514,978	0	4	0.0455	NR_133673:METAP2	exonic	G	A

Abbreviations: SNV, single nucleotide variant; T, transmitted to affected offspring; U, untransmitted to affected offspring.