Table 1.
Sample | Location | Gene | Exonic function | Damaging | Chr | Start | Ref | Obs |
---|---|---|---|---|---|---|---|---|
32 | Exonic; splicing | GPS2 | Splice site | -- | chr17 | 7217225 | C | T |
41 | Exonic; splicing | KDM6A | Frameshift insertion | -- | chrX | 44969494 | - | GG |
17 | Exonic | MLL3 | Nonsynonymous | 4/4 | chr7 | 151859899 | G | A |
16 | Exonic | MLL3 | Nonsynonymous | 2/4 | chr7 | 151860230 | G | C |
16 | Exonic | MLL3 | Nonsynonymous | 1/4 | chr7 | 151877127 | G | T |
21 | Exonic | MLL3 | Nonsynonymous | 4/4 | chr7 | 151879265 | G | T |
21 | Exonic | MLL3 | Stopgain | -- | chr7 | 151900023 | A | T |
13 | Exonic | MLL3 | Stopgain | -- | chr7 | 151874686 | G | A |
21 | Exonic | MLL3 | Nonsynonymous | 3/4 | chr7 | 151875073 | G | A |
30 | Exonic | MLL3 | Nonsynonymous | 3/3 | chr7 | 151927021 | C | A |
28 | Exonic | MLL3 | Nonsynonymous | 1/4 | chr7 | 151919690 | C | T |
33 | Exonic | MLL3 | Nonsynonymous | 3/4 | chr7 | 151970877 | G | A |
20 | Exonic | MLL3 | Nonsynonymous | 2/4 | chr7 | 151945568 | C | T |
“Damaging” is the number of mutation analysis programs (out of four) that predict altered protein function as a result of the variant. Please note that these programs do not make predictions for stopgain, frameshift, or splice site change mutations.