| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,243,829 | A→G | 47.1% | R281R (CGT→CGC) | hemE ← | uroporphyrinogen decarboxylase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,243,829 | 0 | A | G | 47.1% | 2.4 / 58.2 | 68 | R281R (CGT→CGC) | hemE | uroporphyrinogen decarboxylase |
| Reads supporting (aligned to +/- strand): ref base A (11/25); new base G (28/4); total (39/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.97e-06 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.06e-01 | |||||||||||
GGCAGGCGGCGCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGC > minE/2243766‑2243894 | ggCAGGCGGCGCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACAcggc < 1:1587531/68‑1 (MQ=255)ggCAGGCGGCGCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACAcggc < 1:304927/68‑1 (MQ=255) gcggcgCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGgcgcg < 1:2094781/69‑1 (MQ=255) gcggcgCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGgcgcg < 1:2381688/69‑1 (MQ=255) gcggcgCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGgcgcg < 1:367558/69‑1 (MQ=255) cggcgCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGgcgcgc < 1:31651/69‑1 (MQ=255) gTACAGCATCGACGTATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:1577796/69‑1 (MQ=255) gTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:1020683/69‑1 (MQ=255) gTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:1944686/69‑1 (MQ=255) gTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:2846088/69‑1 (MQ=255) gTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:2904766/69‑1 (MQ=255) gTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:131837/69‑1 (MQ=255) tACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:2477305/68‑1 (MQ=255) cAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACAcggcgg > 1:2278626/1‑55 (MQ=255) cAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGAt > 1:305978/1‑69 (MQ=255) cAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGAt > 1:389672/1‑69 (MQ=255) cAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGAt > 1:671082/1‑69 (MQ=255) gACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGTATCGGCGATGTCCGtt > 1:1002574/1‑69 (MQ=255) gACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGtt > 1:3020971/1‑69 (MQ=255) gACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGtt > 1:2922751/1‑69 (MQ=255) gACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGAGATGTCCGtt > 1:1136189/1‑69 (MQ=255) ggATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCTCATCGGCGATGTCCGTTGTc < 1:1867595/69‑1 (MQ=255) ggATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTc < 1:2008485/69‑1 (MQ=255) ggATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTc < 1:2252008/69‑1 (MQ=255) tCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGc < 1:2546315/53‑1 (MQ=255) cATATTACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc < 1:2939235/69‑1 (MQ=255) cATATTACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc < 1:2307109/69‑1 (MQ=255) cATATTACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc < 1:1432906/69‑1 (MQ=255) cATATTACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc < 1:1960818/69‑1 (MQ=255) ttACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCa > 1:522029/1‑62 (MQ=255) ttACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:37280/1‑63 (MQ=255) ttACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:2510817/1‑63 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:1154989/1‑62 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:2972610/1‑62 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:2865540/1‑62 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:2837188/1‑62 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:3179062/1‑62 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAgat > 1:1804279/1‑67 (MQ=255) tACCCTGCAGCGCGACTTTATTGCCAACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:1828829/1‑62 (MQ=255) tACCATGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAg > 1:1699582/1‑62 (MQ=255) acgcTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:3115750/4‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:3267767/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:3277060/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:1328867/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:359334/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:1245248/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:118702/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:599948/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:1550771/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:783425/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:2970677/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:802005/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:2668094/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:2342037/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:2017156/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:2472810/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:2426170/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:203976/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCCACGCGACGGCGCGCATAGGCGATGTCCGTTGTCCAGTc > 1:900812/1‑63 (MQ=255) aCCCTGCAGCGCGACTTTATTGCCAACGCGACGGCGCGCATCGGCGATGTCCGTTGTCCAGTc > 1:1265560/1‑63 (MQ=255) cgACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGc < 1:2117178/69‑1 (MQ=255) cgACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGc < 1:2698631/69‑1 (MQ=255) tGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGtt < 1:2956700/68‑1 (MQ=255) tGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGtt < 1:2087235/68‑1 (MQ=255) tGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGtt < 1:856205/68‑1 (MQ=255) tGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGtt < 1:2880636/68‑1 (MQ=255) tGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGtt < 1:2944430/68‑1 (MQ=255) gCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGtt < 1:2112056/67‑1 (MQ=255) cacaCGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGc > 1:2828428/1‑69 (MQ=255) cacaCGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGc > 1:2627644/1‑69 (MQ=255) cacaCGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGc > 1:865332/1‑69 (MQ=255) cacaCGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGc > 1:2380158/1‑69 (MQ=255) cacaCGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGc > 1:943765/1‑69 (MQ=255) | GGCAGGCGGCGCGTACAGCATCGACGGATCCATATTACCCTGCAACGCGACTTTATTGCCCACACGGCGGCGCGCATCGGCGATGTCCGTTGTCCAGTCGAGGCCCAGCGCATCGCAACCGGTTTCTGC > minE/2243766‑2243894 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |