Table 2.

Summary of NGS genetic variation.

	N	Observations
Total SNVs	4,290	in 100 individuals
SNVs per individual	908	534 heterozygous, 374 homozygous
Coding	3,335
UTRs	471
Non coding	484
Known SNVs	3,053	650 per individual (384 heterozygous and 266 homozygous)
Novel SNVs	1,237	258 per individual (150 heterozygous and 108 homozygous)
Novel SNVs MAF>1%	274	Present in 56 genes including 19CYPs, 3 UGTs, SULT1A2
Heterozygous SNVs	2,463	1660 known and 803 novel
Heterozygous, high impact	27	8 novel variants on 8 genes including CYP3A4 and CYP2B6, and 19 known variants in 9 CYPs, 2 UGTs, SULT1A1, and 5 coagulation proteins
Heterozygous, moderate impact	325	106 novel in 56 genes including 12 CYPs, 5 UGTs, and SULT1A2, 219 known variants in 69 genes, including, 14 CYPs, 6 UGTs, and SULT1A2
Total homozygous	1,110	Known and novel variants
Homozygous, high impact	9	Present on 4 CYPs, including, CYP2B6 POS.4151213, CYP2C9 rs114071557, and on UGT2B7
Homozygous, moderate impact	129	36 novel variants in 25 genes (7 CYPs, 3 UGTs) including CYP4F2 POS15996832, CYP2D6 POS42522724, and 93 known variants in 33 genes (12 CYPs, 5 UGTs, and 5 drug targets)

HGVS, Human Genome variation society nomenclature; C, coding region; P, protein. The 1000 Genomes Project Consortium et al. (2015). POS indicates the position on the chromosome for novel variants.