Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 1,153,878 | G→A | 45.6% | T246I (ACA→ATA) | astE ← | succinylglutamate desuccinylase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | Exported | 1,153,878 | 0 | G | A | 45.6% | 22.6 / 106.8 | 79 | T246I (ACA→ATA) | astE | succinylglutamate desuccinylase |
Reads supporting (aligned to +/- strand): ref base G (22/21); new base A (18/18); total (40/39) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.33e-01 |
CATATGCATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTGGC > Exported/1153811‑1153947 | cATATGCATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATtc > 1:2720425/1‑71 (MQ=255) cATATGCATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATtc > 1:3486456/1‑71 (MQ=255) tGCATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCAc < 1:607689/71‑1 (MQ=255) cATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACg < 1:1630005/70‑1 (MQ=255) cATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGa > 1:432727/1‑71 (MQ=255) aTTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGAt < 1:3107051/71‑1 (MQ=255) aTTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGa > 1:1922785/1‑70 (MQ=255) aTTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGAt < 1:1300862/71‑1 (MQ=255) aTTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGAt < 1:1146240/71‑1 (MQ=255) aTTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGAt < 1:1137475/71‑1 (MQ=255) aTTTCGAAGGAAGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGa > 1:925829/1‑70 (MQ=255) ttCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATAc > 1:3070669/1‑71 (MQ=255) ttCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATAc > 1:2015075/1‑71 (MQ=255) gAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGtt < 1:3104667/58‑1 (MQ=255) gAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGa > 1:985784/1‑65 (MQ=255) gAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGa < 1:492245/71‑1 (MQ=255) aGGACGGCGAGTGGTGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGaca < 1:271005/71‑1 (MQ=255) aGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGaca < 1:1019491/71‑1 (MQ=255) aGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGaca < 1:2406912/71‑1 (MQ=255) aGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGaca < 1:2402476/71‑1 (MQ=255) cGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACActct < 1:54508/71‑1 (MQ=255) cGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACActct > 1:1753793/1‑71 (MQ=255) ggcgagtggcgagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACActct < 1:3438282/70‑1 (MQ=255) gcgagtggcgagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCa < 1:2712961/71‑1 (MQ=255) agtggcgagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCa < 1:3363246/71‑1 (MQ=255) gtggcgagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCAc > 1:2426186/1‑68 (MQ=255) gcgagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGa > 1:1655916/1‑69 (MQ=255) gcgagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGAt < 1:2006867/70‑1 (MQ=255) gagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCa < 1:1508493/65‑1 (MQ=255) gagtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCa < 1:2219395/65‑1 (MQ=255) gtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGAt > 1:838691/1‑66 (MQ=255) gtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATagcag > 1:1734701/1‑71 (MQ=255) gtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATagcag > 1:2517005/1‑71 (MQ=255) gtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATagcag > 1:2510578/1‑71 (MQ=255) gtAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATagcag > 1:991243/1‑71 (MQ=255) aaTTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAgcagcg > 1:1501475/1‑71 (MQ=255) aTTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAgcagcg > 1:1850574/1‑70 (MQ=255) aTTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACg > 1:3085540/1‑42 (MQ=255) aTTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAgcagcg > 1:2419537/1‑70 (MQ=255) aTTTGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAgcagcg > 1:2570814/1‑70 (MQ=255) tGCGAAACCACCCGATAACGGAGCGGCGGTATTCTCACAATACCGACACTCTCACCAGATAgcagcgcag > 1:1966904/1‑70 (MQ=255) cGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACAct > 1:2413955/1‑48 (MQ=255) cGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACAct > 1:493184/1‑48 (MQ=255) cGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACAct > 1:3338587/1‑48 (MQ=255) cGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCaa > 1:1555830/1‑71 (MQ=255) aaaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAgcagcgcagc < 1:697404/67‑1 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGAt < 1:1010850/55‑1 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCaa < 1:385443/68‑1 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTg > 1:1254349/1‑71 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTg > 1:126337/1‑71 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTg > 1:1636204/1‑71 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTg > 1:2205948/1‑71 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTg > 1:2124961/1‑71 (MQ=255) aaCCACCCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATagcagc < 1:2637034/61‑1 (MQ=255) accaccCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTgc > 1:99074/1‑71 (MQ=255) accaccCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTg > 1:681534/1‑70 (MQ=255) accCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCt < 1:3714247/71‑1 (MQ=255) accCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCt < 1:347577/71‑1 (MQ=255) accCGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCt > 1:751606/1‑71 (MQ=255) ccGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg < 1:3203250/71‑1 (MQ=255) ccGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg > 1:576213/1‑71 (MQ=255) ccGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg < 1:2726170/71‑1 (MQ=255) ccGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg < 1:27871/71‑1 (MQ=255) cGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg > 1:3486641/1‑70 (MQ=255) cGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg > 1:3038191/1‑70 (MQ=255) cGATAACGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg > 1:1153988/1‑70 (MQ=255) gATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTgg > 1:99300/1‑69 (MQ=255) aTAACGGAGCGGCGGTGTTCTCACGATACCGacac > 1:2917554/1‑35 (MQ=255) aCGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTa < 1:3422530/71‑1 (MQ=255) aCGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTa < 1:1883824/71‑1 (MQ=255) aCGGAGCGGCGGTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTa < 1:2085062/71‑1 (MQ=255) ggAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACt < 1:781234/71‑1 (MQ=255) cggcggTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCa < 1:1876993/70‑1 (MQ=255) gcggTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAAc < 1:556467/71‑1 (MQ=255) gcggTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAAc < 1:1153300/71‑1 (MQ=255) cggTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACt < 1:108859/71‑1 (MQ=255) ggTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTg < 1:3170080/71‑1 (MQ=255) ggTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTg < 1:1293302/71‑1 (MQ=255) ggTATTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTg < 1:971817/71‑1 (MQ=255) tgtTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTgg > 1:23382/1‑70 (MQ=255) tgtTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTGGc > 1:3032328/1‑71 (MQ=255) tgtTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTGGc > 1:201821/1‑71 (MQ=255) gtTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTGGc > 1:3441403/1‑70 (MQ=255) | CATATGCATTTCGAAGGACGGCGAGTGGCGAGTAATTTGCGAAACCACCCGATAACGGAGCGGCGGTGTTCTCACGATACCGACACTCTCACCAGATAGCAGCGCAGCAATTGCGCTGGCAGTTACTGCAAACTGGC > Exported/1153811‑1153947 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |