Index	Gene	Name	Location	Pos.	Type	Nuc Change	Coverage	AA Change	Condition	Hint	web Ref.	HGVS nomenclature	mut Entry	mut Effect
1	AARS	AARS-E07-rs	E7	87 (903)   [chr16:g.70303580 (hg19)]	C	C -> T (het)	49% (9649)   [50% (4850) / 49% (4799)]	H -> H (301)			rs2070203	c.903C>T	0/0 of 0	SNP KASP
2	COG1	COG1-E07-rs	E7	501 (1782)	C	G -> A (het)	52% (3051)   [0% (0) / 52% (3051)]	E -> E (594)			rs1037256	c.1782G>A	0/0 of 0	SNP KASP
3	EVC	EVC-E08-rs	E8	-91	C	G -> A (homo)	100% (3058)   [100% (3058) / 0% (0)]				rs4689312	c.940-91G>A		
4	EVC	EVC-E08-rs	E8	-71	C	G -> A (homo)	100% (3063)   [100% (3055) / 100% (8)]				rs4689311	c.940-71G>A		
5	EVC	EVC-E08-rs	E8	-61	C	C -> T (het)	51% (1553)   [51% (1553) / 0% (0)]				rs4688964	c.940-61C>T		
6	EVC	EVC-E08-rs	E8	30 (969)	C	T -> C (homo)	100% (6094)   [100% (3061) / 100% (3033)]	N -> N (323)			rs4688963	c.969T>C	0/1 of 1	SNP KASP
7	EVC	EVC-E08-rs	E8	87 (1026)	C	G -> C (homo)	100% (6106)   [100% (3065) / 100% (3041)]	L -> L (342)			rs4688962	c.1026G>C	0/1 of 1	
8	FERMT1	FERMT1-E02-rs	E2	-11	C	T -> G (homo)	100% (11404)   [100% (5724) / 99% (5680)]				rs2273423	c.-18-11T>G		
9	FERMT1	FERMT1-E02-rs	E2	132 (114)	C	T -> C (homo)	100% (11360)   [100% (5644) / 100% (5716)]	H -> H (38)			rs10373	c.114T>C	0/1 of 1	SNP KASP
10	FREM2	FREM2-E14-rs	E14	183 (7398)	C	A -> G (het)	50% (10301)   [49% (5137) / 50% (5164)]	T -> T (2466)			rs9532292	c.7398A>G	1/0 of 1	SNP KASP
11	L2HGDH	L2HGDH-E02-rs	E2	19 (159)	C	C -> T (het)	51% (5426)   [51% (2718) / 51% (2708)]	I -> I (53)			rs2297995	c.159C>T	0/1 of 1	SNP KASP
12	NPHS2	NPHS2-E08-rs	E8	81 (954)	C	C -> T (het)	50% (1902)   [50% (1902) / 0% (0)]	A -> A (318)			rs1410592	c.954C>T	1/0 of 1	SNP KASP
13	NPHS2	NPHS2-E08-rs	E8	165 (1038)	C	A -> C (het)	15% (1117)   [0% (6) / 31% (1111)]	L -> L (346)				c.1038A>C		
14	NPHS2	NPHS2-E08-rs	E8	333	C	G -> C (het)	50% (1814)   [0% (0) / 50% (1814)]	3' UTR			rs1410591	c.*54G>C		
15	SERPIND1	SERPIND1-E05-rs	E5	138 (1446)	C	T -> C (het)	47% (508)   [47% (508) / 0% (0)]	H -> H (482)			rs4675	c.1446T>C	0/1 of 1	SNP KASP
16	VCAN	VCAN-E08-rs	E8	1805 (5808)	C	T -> C (het)	49% (28254)   [49% (14175) / 49% (14079)]	G -> G (1936)			rs309557	c.5808T>C	0/0 of 0	SNP KASP
17	WNK1	WNK1-E19-rs	E19	116 (3960)	C	C -> T (homo)	99% (1667)   [0% (0) / 99% (1667)]	N -> N (1320)			rs7300444	c.3960C>T	0/0 of 0	SNP KASP