. 2020 Dec 7;30:147–158. doi: 10.1016/j.jare.2020.12.003

Table 2.

Variant load of coding mutations and disease-associated variations per individual in 1KTW-WGS.

	Rare variant (<0.5%)		Low frequency variant (0.5–5%)		Common variant (>5%)
	Mean	(s.d.)	Mean	(s.d.)	Mean	(s.d.)
Total loss of function^a	19.76	13.79	27.26	7.88	171.05	26.31
Non-synonymous	135.67	27.57	245.81	54.11	2032.78	415.2
Probably damaging	0.29	0.55	0.36	0.62	1.47	0.97
Splicing variant^a	10.88	3.71	3.5	1.32	10.39	3.51
Stop gain^a	5.67	2.34	6.55	2.57	70.42	18.71
Synonymous	51.37	9.79	114.13	25.97	1123.95	242.7
HGMD (only disease-causing mutations)	0.03	0.17	0.99	0.74	11.25	3.62
OMIM^C	0.23	0.47	0.25	0.5	1.25	0.88
Loss of function (>20BP deletion)^a	0.03	0.17	0.11	0.32	0.53	0.75
Indel frameshift (<20 BP)^a	11.34	13.05	15.44	5.82	72.04	15.32
Indel non-frameshift (<20 BP)^a	3.47	16.87	4.91	3.15	68.2	13.48
All SNVs^a	599.8	126.1	1008.38	239.15	9982.2	2230
Novel^a,^b	26.42	12.4	5.58	3.98	14.01	5.97
Total conserved	191.49	36.61	365.23	79.53	3221.63	671.2
Total bases deleted	7,007,314 bases

Only SNV sites at which ancestral state can be assigned with high confidence and that are highly conserved (GERP > 2.0) are reported. OMIM, Online Mendelian Inheritance in Man; HGMD, The Human Genetic Mutation Database professional version.

No conservation filter applied but used SNPAncestralAllele; ^bNot observed in dbSNP build 152 and 1000 Genomes Project Phase 3; ^cOnly counts damaging and possible damaging variants.