Table 4 Proportion of annotated SNP in genomic regions and mutation types
| Â | Â | Value % (number) | |
|---|---|---|---|
| Â | Â | SNPchip | SNPseq |
Region variant hit | |||
| Â | downstream | 2,43 (183) | 6,23 (12338) |
| Â | exonic | 36,18 (2728) | 14,96 (29607) |
| Â | intergenic | 3,78 (285) | 32,28 (63901) |
| Â | intronic | 37,02 (2791) | 30 (59377) |
| Â | splicing | 0,04 (3) | 0,1 (192) |
| Â | exonic; splicing | 0 (0) | 0,001 (3) |
| Â | upstream | 1,8 (136) | 5,71 (11307) |
| Â | UTR3 | 8 (603) | 6,3 (12470) |
| Â | UTR5 | 3,55 (268) | 3,02 (5968) |
| Â | UTR5; UTR3 | 0 (0) | 0,01 (20) |
| Â | upstream; downstream | 0,6 (45) | 1,18 (2340) |
Annotated Positions | 93,4 (7042) | 99,79 (197523) | |
Total number of Positions | 100 (7540) | 100 (197932) | |
Mutation type | |||
| Â | frameshift deletion | 0 (0) | 0,12 (246) |
| Â | frameshift insertion | 0 (0) | 0,06 (118) |
| Â | Non-frameshift deletion | 0 (0) | 0,08 (159) |
| Â | Non-frameshift insertion | 0,01 (1) | 0,04 (84) |
| Â | synonymous SNV | 19,09 (1439) | 6,64 (13133) |
| Â | Non-synonymous SNV | 16,92 (1276) | 7,85 (15534) |
| Â | Stop gain | 0,15 (11) | 0,15 (299) |
| Â | Stop loss | 0,01 (1) | 0,02 (35) |
Total number of exonic positions | 36,18 (2728) | 14,96 (29608) | |