Table 1.
Scheme used to assign weights to each variant according to the predicted effect. (In the analyses described in this report, INDEL variants were not in fact used.)
Predicted effect | Weight |
---|---|
NULL_CONSEQUENCE | 1 |
INTERGENIC | 1 |
DOWNSTREAM | 1 |
INTRONIC | 3 |
3PRIME_UTR | 5 |
SYNONYMOUS_CODING | 3 |
UPSTREAM | 5 |
5PRIME_UTR | 5 |
SPLICE_SITE | 5 |
STOP_LOST | 5 |
NON_SYNONYMOUS_CODING | 10 |
CODINGINDEL | 15 |
FRAMESHIFT_CODING | 20 |
STOP_GAINED | 20 |