| 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 | 95.0% | 114.1 / ‑5.2 | 49 | L50L (CTC→CTA) | ykfH | uncharacterized protein |
| Reads supporting (aligned to +/- strand): ref base G (2/2); new base T (29/16); total (31/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.18e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.13e-01 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
CTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGA > NC_000913_3_hsa_tpiA/263956‑264237 | cTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAACGCCCATTACGGTACTGGCGGCGTTCGGCGTATACCGCTAGGACt > 1:680469/1‑149 (MQ=255) tCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTc > 1:288446/1‑149 (MQ=255) ccAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAATTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTGTACCGCTAGGACTCCg > 1:404959/1‑149 (MQ=255) cAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCgg < 1:293349/149‑1 (MQ=255) gcgcAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCgc > 2:358906/1‑148 (MQ=255) tcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTAAGATCAGATTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTc > 1:505191/1‑149 (MQ=255) gCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGgtgt > 1:189070/1‑149 (MQ=255) cccTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTaa < 1:424324/149‑1 (MQ=255) gTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACGGACGc > 1:448344/1‑149 (MQ=255) gTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGc > 2:183328/1‑149 (MQ=255) tcacgttACAGTTCTCCACTATGTTCAGTTTAGGGTGATGCTCATCGGGCAGGTAGAGGGCCCATGGCGGTCCCGGCGGGGTGGGGCGTATACCGCGAGGACTCCGGCGATATCCGGAATGTCCCGGCCGGTGTAATGAGAGACGATAc < 2:286461/144‑1 (MQ=255) cTCGTTACATGTCTCCACTATTGTCAGTGCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTAcc < 2:519469/149‑1 (MQ=21) cTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGAGTCCGGCGATATCCGGCACGTCCCTGCCGGTGTAATGACACGCGCTAcc > 2:223883/1‑149 (MQ=25) tCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAAGCACCGATAGGACCCAGTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCg > 2:666889/1‑149 (MQ=21) aTTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGGGTAATGACAGACGCTACCGtt > 1:694979/1‑148 (MQ=255) cAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGAGTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTAcctttcccg > 1:241886/1‑142 (MQ=255) cAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCTGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCAc > 1:430648/1‑149 (MQ=255) ccACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGACATCCAGAACGTCCCTGCCGGTGTAATGACATACGCTACCGTGCCCCTGGTAtt > 2:652378/1‑149 (MQ=21) aCTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGGGTCTACCGCTAGGACTCCGGCGATATCCGGCACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGGCACTGTTAtttt > 2:64721/1‑148 (MQ=21) gTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGTACGTCCCTGCCGGTGTAATGACAGCCGCTACCGTGCCACTGGTATTTGCCGGTg > 1:625615/1‑149 (MQ=255) gTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACCGACACAACCGTTCCACTGGTATTTGCCGGTg > 2:332170/1‑149 (MQ=255) tCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGc > 1:624435/1‑149 (MQ=255) tCAGTTCAGGGTGATGCTCAACAGGCCGGTAGAGGGCCCATTGCGGTCCTGACGGCGTTCGGCGTATACCGCTGGGACTCCGGCGATATCAGGAACGTACCTGCCGGTGTAATGACAGACGCTGCCGTGGCCCTGGTCTTTGCCGGtca > 2:379197/1‑147 (MQ=21) ttCGGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTa < 1:187354/149‑1 (MQ=255) ttCAGGGTGATGCTCATCAGGCAGGTATAAGGCCCATTGCGGTCATGGGGGGGTTCGGGGTATACGGCGATGACTGCGGCGATATCCGGAACGTGGCTGCGGGGGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTa > 2:538285/1‑149 (MQ=21) ggTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGCCGCTACCGTGCCACGGGTATTTGGCGGTGCAGTAGCGaa > 1:301553/1‑149 (MQ=255) gTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGCCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGaaa < 1:701270/149‑1 (MQ=255) gCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATCCCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCGACTGGTATTTGCCGGTGCAGTAGCGAAAGAtgc > 1:298694/1‑147 (MQ=255) cTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCg < 1:236620/149‑1 (MQ=255) gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAGCGTCCCTGCCGGTGTAATGACAGACGCTACCGCGCCAATGGGAATTGCCGCGGAAGAGGCGAAAGAATCGGGAcaccc > 2:129193/1‑145 (MQ=21) gtggcgaGGGCCCATCGTGGCCCTGGCGGCGTGCGGCGTATACCGCTAGGGCGTCGGCTATAGCCGGATCGTCCTGTCCGGGGTTATGACAGTGGCTACCGTGCCATTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGa < 2:383252/143‑1 (MQ=12) aggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGa < 2:343737/149‑1 (MQ=255) ggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGt < 2:37341/101‑1 (MQ=255) ggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGt > 1:37341/1‑101 (MQ=255) ggCCCATTGCGGTCGTGGCGGCGTCCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGCCTCAGGATGCTGGCg > 1:630049/1‑149 (MQ=255) gCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCgg > 1:476398/1‑149 (MQ=255) aTTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGtata > 1:366671/1‑149 (MQ=255) tCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCAt > 1:91411/1‑149 (MQ=255) ccgggcggcGTCTGGCGCATAGCGCTAGGACTCGGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCAGTGGTATGTGTCGGTGGAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCAtt < 2:452066/146‑1 (MQ=14) tGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGc > 2:551057/1‑149 (MQ=255) ggcggcGTTCGGCGTATCCCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGcc < 1:52589/149‑1 (MQ=255) cggagTTCGGCGTATACGGCTAGGATTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGACGCTGGCGGTATATCGTCATTGCCCt < 2:679326/149‑1 (MQ=14) ttCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGAGGCTGGCGGTATATCGTCATTGCCCTGCGtt > 1:581719/1‑149 (MQ=255) ggCGTATACCGCTAGGGCTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc < 2:104436/149‑1 (MQ=255) ggCGTATACCGCTAGGACTCGGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc < 1:412608/149‑1 (MQ=255) gctgataCCCCGAGTACTCCGGAGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACGCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACt < 1:358906/145‑1 (MQ=17) cGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGt < 2:185682/143‑1 (MQ=255) cGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGt > 1:185682/1‑143 (MQ=255) gTAAACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCTGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGAAGTAGCGAAAGATTCTGGCCTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGa < 2:172267/149‑1 (MQ=17) | CTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGA > NC_000913_3_hsa_tpiA/263956‑264237 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |