| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,243,925 | G→A | 38.0% | T249T (ACC→ACT) | hemE ← | uroporphyrinogen decarboxylase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,243,925 | 0 | G | A | 38.0% | 34.6 / 38.1 | 63 | T249T (ACC→ACT) | hemE | uroporphyrinogen decarboxylase |
| Reads supporting (aligned to +/- strand): ref base G (18/21); new base A (20/4); total (38/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.91e-03 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.14e-01 | |||||||||||
GTCGAGGCCCAGCGCATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATG > minE/2243862‑2243990 | gTCGAGGCCCAGCGCATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTa > 1:886902/1‑67 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:988620/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2906510/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2838181/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:100809/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2809101/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2805154/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2802292/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2608584/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:3271092/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:2488820/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:3327745/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:353163/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:429377/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:937933/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:1765819/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:649829/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:787252/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGAct > 1:1500235/1‑68 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTAAGTAAAc > 1:1499339/1‑60 (MQ=255) aGCGCATCGCAACCGGTTTCTGCCATCGCTTCCAGCCACTATCCACCGCCTTTAGTAAACAGCCTGAct > 1:901439/1‑68 (MQ=255) cgcATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCgg < 1:563501/69‑1 (MQ=255) cgcATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCgg < 1:965490/69‑1 (MQ=255) cgcATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCgg < 1:3018755/69‑1 (MQ=255) cgcATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCgg < 1:3248299/69‑1 (MQ=255) cgcATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCgg < 1:2108998/69‑1 (MQ=255) cGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTAcgc > 1:2576907/1‑69 (MQ=255) cGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTAcgc > 1:575299/1‑69 (MQ=255) cGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTAcgc > 1:1858506/1‑69 (MQ=255) cGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTAcg > 1:2444350/1‑68 (MQ=255) cGCAACAGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTAcgc > 1:2723/1‑69 (MQ=255) ggTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGt > 1:144936/1‑51 (MQ=255) ggTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGt > 1:2068401/1‑51 (MQ=255) ggTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGACTGGTACGCGGCGAcc < 1:2828527/69‑1 (MQ=255) ggTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGACTGGTACGCGGCGAcc < 1:1221147/69‑1 (MQ=255) ggTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGACTGGTACGCGGCGAcc < 1:1497121/69‑1 (MQ=255) ggTTTCTGCCATCGCTTCCAGCCACTGTCCACCGCCTTTAGTAAACAGCGTGACTGGTACGCGGCGAcc < 1:2249812/69‑1 (MQ=255) gTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACgcggcg > 1:1602105/1‑65 (MQ=255) gTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACgcggcg > 1:1851053/1‑65 (MQ=255) gTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACgcggcg > 1:542826/1‑65 (MQ=255) gTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACgcggcg > 1:495401/1‑65 (MQ=255) ttCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACcgtc < 1:1789735/69‑1 (MQ=255) ccATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCgg < 1:2438057/49‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:3018027/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:1029735/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:1651496/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:575259/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:3404983/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:259611/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:3239197/68‑1 (MQ=255) aGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:3021278/68‑1 (MQ=255) gCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa > 1:190210/1‑67 (MQ=255) gCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:521946/67‑1 (MQ=255) gCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTa > 1:336924/1‑66 (MQ=255) tGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTaa < 1:2966338/62‑1 (MQ=255) cgccgcCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATcaacaa < 1:3112077/69‑1 (MQ=255) cgccTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAAttt < 1:943934/69‑1 (MQ=255) tttGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATg > 1:1745407/1‑69 (MQ=255) tttGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATg > 1:665828/1‑69 (MQ=255) tttGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATg > 1:693973/1‑69 (MQ=255) tttGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATg < 1:1416441/69‑1 (MQ=255) tttGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATg > 1:265822/1‑69 (MQ=255) ttGGTAAACAGCGTGACCGGTACGCGGCGACCGGCGTTTTCACGCAGTAAACCATCAACAAATTTATg < 1:2657425/68‑1 (MQ=255) | GTCGAGGCCCAGCGCATCGCAACCGGTTTCTGCCATGGCTTCCAGCCACTGTCCGCCGCCTTTGGTAAACAGCGTGACCGGTACGCGGCGACCGTCGTTTTCACGCAGTAAACCATCAACAATTTTATG > minE/2243862‑2243990 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |