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

Table 1.

The frequency distribution of variants based on functional annotations*

Type		SNV				Indel
	MAF	> 5%	0.5–5%	< 0.5%	All	> 5%	0.5–5%	< 0.5%	All
3′ or 5′ UTR, upstream, downstream, Synonymous	Total	217,916	143,562	618,151	979,629	33,692	30,607	86,387	150,686
	Novel^a	2674	4045	137,780	144,499	7867	12,585	48,616	69,068
	% of total variants	3.703	3.925	3.61	3.674	3.492	3.624	3.558	3.556
	% of novel variants	3.298	3.77	3.367	3.376	3.244	3.422	3.375	3.368
Stop gain or loss, frameshift variant, splicing variant	Total	647	605	4943	6195	937	1696	7561	10,194
	Novel^a	4	16	1171	1191	441	1163	5463	7067
	% of total variants	0.011	0.017	0.029	0.023	0.097	0.201	0.312	0.241
	% of novel variants	0.005	0.015	0.029	0.028	0.182	0.316	0.379	0.345
Missense, in-frame variant	Total	18,893	18,097	114,202	151,192	470	461	2824	3755
	Novel^a	32	330	17,752	18,114	64	134	1668	1866
	% of total variants	0.321	0.495	0.667	0.567	0.049	0.055	0.116	0.089
	% of novel variants	0.039	0.3	0.43	0.42	0.026	0.03	0.11	0.09
Intronic, intergenic	Total	5,647,133	3,494,935	16,385,854	25,527,922	929,818	811,862	2,331,119	4,072,799
	Novel^a	78,362	102,894	3,935,234	4,116,490	234,153	353,881	1,384,933	1,972,967
	% of total variants	95.965	95.563	95.694	95.736	96.363	96.121	96.014	96.115
	% of novel variants	96.657	95.907	96.17	96.173	96.548	96.226	96.131	96.197
Overall	Total	5,884,589	3,657,199	17,123,150	26,664,938	964,917	844,626	2,427,891	4,237,434
Overall	Novel^a	81,072	107,285	4,091,937	4,280,294	242,525	367,763	1,440,680	2,050,968

Not observed in dbSNP build 152 and 1000 Genomes Project Phase 3; MAF: minor allele frequency; SNV: single nucleotide variant; Indel: insertion or deletion.