Type of Effects | No of Effects | ||
---|---|---|---|
 | Count | Percent | |
High Effect | Total | 1821 | 0.052 |
 Splice acceptor variant | 96 | 0.003 | |
 Splice donor variant | 135 | 0.004 | |
 Start loss | 56 | 0.002 | |
 Stop gain | 371 | 0.003 | |
 Stop lost | 96 | 0.003 | |
 Frame shift | 1102 | 0.031 | |
Moderate Effect | Total | 35,583 | 2.724 |
 Conservative inframe deletion | 49 | 0.001 | |
 Conservative inframe insertion | 83 | 0.002 | |
 Disruptive inframe deletion | 98 | 0.003 | |
 Disruptive inframe insertion | 74 | 0.002 | |
 Missense variant | 35,285 | 1.004 | |
Low Effect | Total | 95,439 | 1.015 |
 5′ UTR premature start gain | 3020 | 0.086 | |
 Splice region variant | 10,980 | 0.312 | |
 Stop retained | 106 | 0.003 | |
 Synonymous variant | 83,150 | 2.366 | |
 Initiator codon/ non syn start | 15 | 0 | |
Modifier Effects | Total | 3,371,168 | 96.209 |
 3′ UTR | 174,811 | 4.974 | |
 5′ UTR | 23,577 | 0.671 | |
 Downstream | 485,837 | 13.823 | |
 Upstream | 421,908 | 12.041 | |
 Non-coding transcript | 470 | 0.013 | |
 Intron variant | 1,479,087 | 42.082 | |
 Intergenic regions | 794,375 | 22.67 |