Table 1. Experimental validation of novel personal specific splice junctions.
| Gene symbol | Genomic coordinates (hg19) | Average relative usage frequency | Frequency standard deviation | # Individuals supported | GWAS disease/trait | Validated | novel |
|---|---|---|---|---|---|---|---|
| ANXA6 | chr5:150483256–150484805 | 0.48 | 0 | 1 | Yes | Yes | |
| ARSG | chr17:66352945–66364691 | 0.82 | 0.18 | 15 | Yes | Yes | |
| ASMTL | chrX:1540735–1544272 | 0.10 | 0 | 1 | Yes | Yes | |
| DHRS12 | chr13:52345636–52345956 | 0.23 | 0 | 1 | Coronary Artery Disease (72) | Yes | Yes |
| GRAMD1A | chr19:35505291–35506730 | 0.65 | 0.08 | 43 | Yes | Yes | |
| NPNT | chr4:106816880–106819054 | 0.65 | 0.28 | 9 | Yes | Yes | |
| OAS1 | chr12:113355505–113357194 | 0.21 | 0.07 | 69 | Multiple complex diseases (73) | Yes | Yes |
| U2AF1L4 | chr19:36233704–36234652 | 0.28 | 0.09 | 6 | Yes | Yes |