Table 2. Summary of the TIMP3 variants associated with BAV/TAD.

rsID	Protein Change	CADD Score	Expected Allele Frequency (Alleles/Total)	Observed Frequency in Cases (Cases/Total)	Observed Allele Frequency in Cases (Alleles/Total)	Observed Frequency in Controls (Controls/Total)	Observed Allele Frequency in Controls (Alleles/Total)
rs9862	p.His83 =	2.597	49.1% (32790/66734)	64.8% (57/88)	43.8% (77/176)	71.0% (71/100)	50.5% (101/200)
rs11547635	p.Ser87 =	16.67	7.1% (4735/66738)	23.8% (21/88)	11.9% (21/176)	6.0% (6/100)	3.5% (6/200)
rs149161075	p.Phe172 =	5.801	0.3% (203/66736)	2.3% (2/88)	1.1% (2/176)	0% (0/100)	0% (0/200)
rs369072080	p.Gly173 =	0.002	0% (0/66738)	1.1% (1/88)	0.6% (1/176)	0% (0/100)	0% (0/200)

All of the TIMP3 variants identified through whole exome sequencing of subjects in our Turner discovery syndrome cohort are listed. The dbSNP rs identifier is listed, along with the consequence of the change, ExAC expected allele frequencies (European non-Finnish), CADD score, the number of subjects that had a BAV (case) or a normal valve (control), and the allele frequency of each variant, reported as percentages.