Table 1. List of selected candidate variants in Category I and Category II genes.

Categories	Gene symbol	Positiona	Chr.	Function	Ref	Alt	Protein change	SNP	ESP5400 MAF ESP	1kg2010 MAF 1000 Genomes	ExAC MAF	SIFTb	PolyPhen2c	Mutation Tasterd
I	SMAD9	37441448	13	Nonsynonymous SNV	C	A	T248K	rs79733377	0.07%	0.86%	0.15%	No	No	No
I	ACVRL1	52308249	12	Nonsynonymous SNV	C	T	R218W	rs199874575	0.01%	0.02%	0.04%	Yes	Pb	Yes
II	SGCD	156184733	5	Nonsynonymous SNV	C	G	D239E	rs180898690	–	0.24%	0.10%	No	No	No

Abbreviations are as follows: Chr., chromosome; MAF, minor allele frequency.

^aHuman genome build 37/hg19.

^bSIFT: Yes, damaging; No, tolerated.

^cPolyPhen: Pb, probably damaging; Ps, possibly damaging; No, benign.

^dMutationTaster: yes, disease causing; No, polymorphism.