Table 2A. Burden of rare mutations in the TMPRSS2 gene in different populations.

Population	N alleles	T1	Freq T1	ITA	EUR	EAS
ITA	7968	30	0.0038	-	P=0.039	P=3.6e-05
EUR	129920	726	0.0056	P=0.039	-	P=9.8e-16
EAS	19979	25	0.0013	P=3.6e-05	P=9.8e-16	-

Total allele counts, carrier allele counts, and carrier frequencies are shown; only deleterious variants with MAF less than 1% were considered in the burden analysis. The ‘deleterious’ set is defined by missense variations predicted to be possibly damaging by all the 5 algorithms used (LRT score, MutationTaster, PolyPhen-2 HumDiv, PolyPhen-2 HumVar, and SIFT), and loss-of-function variants (nonsense, frameshift, and splicing variants affecting the donor/acceptor sites).

P values are presented as non-corrected; the number of statistical comparisons performed in Tables 1A, 1B, 2A, and 2B is collectively of 24, thus lowering the threshold for significance at P=0.0021 (Bonferroni threshold). Significant P values are indicated in bold.

T1: alleles carrying damaging variants; Freq T1: frequency of T1 allele; ITA: Italian population; EUR: European population; EAS: East Asian population.