Table 5. Sequence variants identified by NGS sequencing in control samples.

Sample	Sanger-established variants	Total NGS variants	dbSNP variants	Non - dbSNP variants	Filtered variants	False positive ratea (%)
CMD-8	5	8	6	2	15	37
CMD-9	39	53	44	9	24	26
CMD-10	12	14	12	2	19	14
CMD-11	4	4	4	0	9	0
CMD-12	4	6	2	4	0	33

^aRepresents percentage of variants that were detected by NGS but not confirmed by Sanger sequencing; Total NGS Variants, Include variants that passed threshold settings described in text; Non-dbSNP Variants, NGS variants not listed in dbSNP; Filtered Variants, Variants that were initially detected by NGS but did not meet thresholds and got filtered by the criteria described in Figure 2.