Variant nomenclature changed based on the results of variant call format normalization
| Chr | Position | Ref | Alt | Gene | Transcript | Pre-normalization | GATK LAATV | vt-normalize | Validation |
|---|---|---|---|---|---|---|---|---|---|
| chr5 | 74021847 | ACTCAAA | A | NM_001281302.1 | c.1921_1926delTTTGAG | c.1922_1927delTTGAGT | c.1922_1927delTTGAGT | No | |
| chr14 | 51375699 | TA | TAA | NM_002863.4 | c.2178-28dupT | c.2178-27dupT | c.2178-27dupT | No | |
| chr16 | 88793089 | CA | CG | NM_001142864.2 | c.3699+33T>C | c.3699+33T>C | c.3699+33_3699+ 34delTGinsCC | No | |
| chr18 | 67863851 | C | CTCC | NM_173630.3 | c.724_726dupGGA | c.725_727dupGAG | c.725_727dupGAG | Yes | |
| chr2 | 179634391 | TATT | TT | NM_001267550.1 | c.8902+13_8902+ 14delAT | c.8902+28_8902+ 29delTA | c.8902+13_8902+ 14delAT | No | |
| chr6 | 65016997 | AGA | A | NM_001142800.1 | c.6079-24_6079- 23delTC | c.6079-4_6079-3delTC | c.6079-4_6079-3delTC | No | |
| chr6 | 70983674 | ATAAA | A | NM_001851.4 | c.1065+72_1065+ 75delTTTA | c.1065+102_1065+ 105delTATT | c.1065+102_1065+ 105delTATT | No | |
| chr11 | 86658278 | ACAA | A | NM_012193.3 | c.*3903_*3905delTTG | c.*3908_*3910delGTT | c.*3908_*3910delGTT | No | |
| chrX | 31165667 | AAAAGAAAGAA | AAAAGAA | NM_004006.2 | c.10554-42_10554- 39delTTCT | c.10554-36_10554- 33delCTTT | c.10554-36_10554- 33delCTTT | No |
Abbreviations: Chr, chromosome; Ref, reference allele; Alt, alternative allele; GATK, Genome Analysis Toolkit; LAATV, LeftAlignAndTrimVariants.