| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 264,098 | G→T | 100% | L50L (CTC→CTA) | ykfH ← | uncharacterized protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 264,098 | 0 | G | T | 100.0% | 92.8 / ‑6.7 | 37 | L50L (CTC→CTA) | ykfH | uncharacterized protein |
| Reads supporting (aligned to +/- strand): ref base G (0/1); new base T (19/16); total (20/17) | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATT > NC_000913_3_hsa_tpiA/263955‑264242 | gCTCCCAGGAGAAGTGTAATCTGCGGGTGCAGGCACCTGGTAGGGTGGCTCATTAAAGTTCTACACTATTGTTAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCAGATTGGGGTCCTGGGGGCGTTCGGCGTATACCGCTAggga > 2:249029/1‑147 (MQ=255) aGGGGCAGTGTAACTTCCCGCTGCCGGCCCCTGGTAGGCTTGATCATTACAGTTGTCCACTATTGTCAGTTCAGGGTGATGACCATCAGCCGGGTATAGGGTCCATTGCGGTCCTGGCGGCGTTCGGGGTATACCGCTAGGACTCCGGc < 2:222098/149‑1 (MQ=255) aaTCTCCCGTTGTAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGaa < 1:337166/149‑1 (MQ=255) tcCGGCTGCAGGGCCTTGGTAGGGTTGCTCATTACAGATCTCGACTATTGTAAGTTCGGGGTGATGATCATGAGGCAGGTAAAGGGCGCATTGTGGTCCTGGCGGCGTTCGGCGTATACCGTTAGGAGTTCGGCGATATCCGGAACGTc < 2:307218/149‑1 (MQ=255) gCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCg < 1:114143/149‑1 (MQ=255) cAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCgg > 1:342583/1‑149 (MQ=255) ggCCCCTGGTAGGGTTGCTCATCACAGTTCTCCACTATTGTCAGTTCACGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGgtg < 1:221963/149‑1 (MQ=255) ccTGGTAGGGTTGCTCATTACAGTTGTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCTGCGTATACCGCTAGGACTCCGGCGATATCCGGAGCGTGCCTGCCGGTGTTAt > 2:44618/1‑149 (MQ=37) cTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTGCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTACTg > 2:529792/1‑149 (MQ=255) tGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGa < 1:584955/149‑1 (MQ=255) gTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGAcg > 1:377871/1‑148 (MQ=255) gTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGc > 1:585584/1‑149 (MQ=255) gCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTAc < 1:640287/149‑1 (MQ=255) aTTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGAGGCTACCGTg > 1:49651/1‑149 (MQ=255) aTTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTg > 1:97108/1‑149 (MQ=255) ttCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGCCCTTCCGCGTATACCGCCAGGGCTCCGGCGATATACGGAACGACCCTGCCGGTGTGACGCCAGACACGACCGCGCCAcgcg > 2:466966/1‑146 (MQ=21) aTTGTCAGTTCAGGGTGATGTTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCg < 1:347587/149‑1 (MQ=255) aTTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTCGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCg > 1:332314/1‑149 (MQ=255) aGTTCAGGGTGATGCTCAACAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTCTAAAGACGGACGCTACCGTGCCGCTGGTATTTGCCGGTGccg > 2:337138/1‑147 (MQ=255) gTTCAGGGTGATGCTTATCAGGAAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTCAAGCCTTCGGCGACCGTGCCACTGGTATTTGCCGGTGCAGt < 1:164181/149‑1 (MQ=255) ttCAGGGTGATGCTCATCAGGCAGGAATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGGTATCCGGAACGTCCCTGCCGGTGACATGACAGACGCTACCGTGCCACCGGTATTTCCCGGTGccagc > 2:558708/1‑145 (MQ=21) aGGGGGATGCTCATCAAGCAGGTATAGGGCCCATTGCGGGCCTGGCGGCGTTCGGCGTATACCGCTAGGGCTCCGGCGATATCCGGAGCGTCCCTGCCGGTCTAATGACAGCCGCTACCGCGCCACTGGTACTTGCCGGTCCAGTaacc > 2:534720/1‑146 (MQ=255) attGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCAGGCGATATCCGGAACGTACCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTGGCGaa > 2:638549/3‑149 (MQ=255) gttatccTCATCATTCAGTTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACTTCCCTGCCGGTTTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGaaa < 1:220094/143‑1 (MQ=18) tcaacaGGGAGGTATAGGGCCCATTGGGGTCCTGGGGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCTACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg < 1:26012/149‑1 (MQ=21) atcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGGATTTGCCGGTGCAGGAGCGAAAGATTCGGGa > 1:528834/1‑149 (MQ=255) aggcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTACCGGTGCAGTAGCGAAAGATTCgggcccc > 2:268363/1‑145 (MQ=255) gtaggTCTAGGGCCCTGTGCGGCCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAg < 1:459855/147‑1 (MQ=18) gggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGc > 1:154006/1‑110 (MQ=255) gggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGc < 2:154006/110‑1 (MQ=255) ggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGGCTCAGGATGCTGGCg > 1:484860/1‑149 (MQ=255) ggTCGTGGCGGCGTTGGGGGTAGACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGGGTAATGACAGACGCTACTGTGCCACTTGTATTTGCCGGTGCAGTATCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTc < 2:140512/149‑1 (MQ=17) ttCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGACGGTATATCCTCATTGCCCTGccgt > 2:568694/1‑146 (MQ=255) ggCGTATACCGGTAGGTGTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc < 2:665612/149‑1 (MQ=255) gTAGACCGCTAGGCCTCCGGCGATATCTGGAACGTCCGTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGGGGTATTGCGGCATTGCCCTGCGTTTACTGa < 2:288474/149‑1 (MQ=17) agaCCGCTAGGACGCCGGCGATATCCGTAACGCCCCTTCCGGTGGAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGCTGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGaga > 2:435766/3‑147 (MQ=14) ccGCTAGGACTCCGGGCATATCCGGAACGGCCGTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGGATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAtt < 2:118500/149‑1 (MQ=14) | GCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATT > NC_000913_3_hsa_tpiA/263955‑264242 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |