| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,774,576 | G→A | 100% | G263E (GGG→GAG) | ydiB → | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,774,576 | 0 | G | A | 100.0% | 98.5 / NA | 34 | G263E (GGG→GAG) | ydiB | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base A (17/17); total (17/17) | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT > NC_000913_3_hsa_tpiA/1774435‑1774721 | gggTTAATGATATCAGTTTGTTCCATCCGGGATTTCTGGTCACTGAATGCGTGTATAACTCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa < 1:342101/148‑1 (MQ=255) gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACa > 1:494704/1‑149 (MQ=255) gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACAATTGATGGATACGGCAGGTTGTTGTGGCAAGAGGCTGAAcc > 2:108256/1‑148 (MQ=255) aTGATATCAGTATGTTACAGCCGGGACTTTTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTAGTGCAGCAGGCGCAATAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTc < 1:60856/149‑1 (MQ=255) tGAGATCAGTCGGTTACATCCGGGACTTTTGCTCACTGAATGCGTTGATAACCCGCATATTACGAAGTTATTGCAGTAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATATGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca < 2:138824/149‑1 (MQ=255) cAGTCTGTTACATCCGGGACTTCGGTTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGAAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt < 1:642587/149‑1 (MQ=255) tCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa > 1:274068/1‑149 (MQ=255) tGTTACATCCGGGACTTCTGGTCACTGAATGCGGGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt < 1:667360/149‑1 (MQ=255) gTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAGGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg > 1:33539/1‑149 (MQ=255) gTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg < 1:413682/149‑1 (MQ=255) ggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt > 1:145177/1‑149 (MQ=255) ggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt > 1:463766/1‑149 (MQ=255) aCTGCTGGTCACTGAATGCGGGTATAACCCGCAGATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTcc < 2:192804/149‑1 (MQ=255) ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCct > 1:287296/1‑149 (MQ=255) ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCct > 1:635154/1‑149 (MQ=255) cTGGACAGTTAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctct < 2:223198/149‑1 (MQ=255) tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca < 1:294465/120‑1 (MQ=255) tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca > 2:294465/1‑120 (MQ=255) gCGTGTATAACCCGCATATGACGAAGTTATAGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa < 2:538681/149‑1 (MQ=255) gtgtATAACCCGCAAGTGACGAAGTCATTGCGGCAGGCGCAACAAGCTGGTTTCAAAACGATTGATGGATACGGGATGTTGTTGTGGCGAGAGGATGAACGGGTCATTTTATGGACTTGCAATGATTTCCCTCTGAAATATAGTAAACa > 2:662686/1‑149 (MQ=255) ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTTTGGACTGGCAAAGCTTTCCCTCTGGAATATGTTAAACACGACAAggg > 1:12944/1‑149 (MQ=255) ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg < 2:504674/149‑1 (MQ=255) tGACGAAGTTATTGCAGCAGGCGTAAACAGCTGGTTGCAAAACGATTGTTGGATAAGGCATGTTGTTGTGGCAAGAGGCTGAACAGTCCACCTTAAGGACTGTCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt < 1:195573/149‑1 (MQ=255) caacagGCGCAACAAGCTGGTTACAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGTTCATGGGGTTCGGTGCCTGACAGGCTGa < 2:42987/146‑1 (MQ=255) aacaaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAg > 1:229533/1‑149 (MQ=255) aGCTGGTTGCAAAACGATTTATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAg < 1:444565/149‑1 (MQ=255) aaaaCGATTGGTGGATAAGGCAGGTTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt < 2:674584/149‑1 (MQ=255) aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGCATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACCGGCTGACCGCCTGCAGAAAGGGTaaaaaag > 2:150913/1‑148 (MQ=255) aTGGATACGACATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACGGGCAAAGATTTCCCTCTGGAATATGTTAAACAGCTCATGGGGTTCGGTGCCTGACACGCTGACCGCGTGCAGAAAGGGTCAAAAATGAACACCGTa > 2:529296/1‑149 (MQ=255) tACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGt > 1:74110/1‑149 (MQ=255) ttgttgtGGCAAGAGGCTGAACAGTTCCCATTAGAGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct > 1:165080/1‑149 (MQ=255) tgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc < 1:499635/149‑1 (MQ=255) aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGt < 1:646166/149‑1 (MQ=255) aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTCGt > 2:429373/1‑149 (MQ=255) | TGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT > NC_000913_3_hsa_tpiA/1774435‑1774721 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |