Table 3. SNV filtering and quantification.

SNV Classification	Total	In dbSNP 129	Not in dbSNP 129
Variants meeting filter criteria	2,384,470	2,140,848	243,622
Synonymous or not coding region	2,375,812	2,133,226	242,586
Coding region & non-synonymous	8,658	7,622	1,036
Splice site mutations	151	132	19
Heterozygous splice site mutations	62	47	15
Homozygous splice site mutations	89	85	4
Premature stop	134	93	41
Heterozygous premature stop	82	48	34
Homozygous premature stop	52	45	7
Non-synonymous	8,538	7,518	1,020
Heterozygous non-synonymous	4,005	3,134	871
Homozygous non-synonymous	4,533	4,384	149