Consequence a | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Organ | Missense | Splice region | Splice donor | Frameshift | Stop gained | Inframe insertion | Inframe deletion | Splice acceptor | Start lost | Stop lost | Intron variant | Start retained | Affected genes |
Liver | 260 | 2 | 3 | 3 | 1 | 3 | – | – | – | – | – | – | 120 |
Muscle | 494 | 24 | 8 | 14 | – | 3 | 4 | 1 | 1 | 1 | – | – | 211 |
Hypothalamus | 818 | 11 | 11 | 10 | 3 | 10 | 9 | – | – | – | – | – | 352 |
Pituitary | 823 | 9 | 5 | 12 | 3 | 10 | 17 | – | 2 | 1 | – | 2 | 343 |
Adrenal | 635 | 6 | 2 | 3 | 2 | 9 | 15 | 3 | – | – | 2 | – | 286 |
Total | 3030 | 52 | 29 | 42 | 9 | 35 | 45 | 4 | 3 | 2 | 2 | 2 | 1312 |