Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 2,919,408 | C→A | 17.3% | V96V (GTG→GTT) | argI ← | ornithine carbamoyltransferase 1 |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | Exported | 2,919,408 | 0 | C | A | 17.3% | 370.0 / 39.8 | 137 | V96V (GTG→GTT) | argI | ornithine carbamoyltransferase 1 |
Reads supporting (aligned to +/- strand): ref base C (69/44); new base A (15/9); total (84/53) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
Only 100 of 146 total aligned reads displayed.
TCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGC > Exported/2919340‑2919478 | ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg > 1:832260/1‑71 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:949554/70‑1 (MQ=255) cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc < 1:4914136/71‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc < 1:383035/69‑1 (MQ=255) cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg < 1:4073582/71‑1 (MQ=255) agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc < 1:1399009/68‑1 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:3615736/1‑69 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:1101333/1‑69 (MQ=255) cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg > 1:1599345/2‑69 (MQ=255) gtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt > 1:115740/1‑71 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt < 1:2736729/70‑1 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:137224/1‑58 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc > 1:161096/1‑71 (MQ=255) cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:5171538/1‑54 (MQ=255) aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa > 1:1903331/1‑71 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc > 1:2663031/1‑56 (MQ=255) cTGACCATAGCCGCTATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:4619687/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:1424075/67‑1 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2821532/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:5649331/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:2343272/1‑71 (MQ=255) tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa < 1:629304/68‑1 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTAAATCGActct > 1:2658552/1‑71 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:4250198/1‑44 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:1658580/1‑44 (MQ=255) ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2899789/1‑65 (MQ=255) cATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCttt > 1:242901/1‑70 (MQ=255) aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:612447/1‑71 (MQ=255) tAGCGGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt < 1:1430247/70‑1 (MQ=255) tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:3135233/1‑70 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:1259896/1‑60 (MQ=255) accGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc > 1:1853748/2‑39 (MQ=255) ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc > 1:118750/1‑68 (MQ=255) ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc > 1:3837458/1‑68 (MQ=255) gcgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCaa < 1:1430620/71‑1 (MQ=255) cgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGAct > 1:2446098/1‑58 (MQ=255) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:1306294/61‑1 (MQ=255) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:3285013/61‑1 (MQ=255) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAAt < 1:705228/71‑1 (MQ=255) aTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:4883388/1‑52 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg < 1:1824800/42‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:75454/51‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt < 1:548513/70‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt < 1:5450936/70‑1 (MQ=255) aCTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:5162771/1‑71 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt < 1:4325460/41‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt < 1:2991618/41‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt < 1:736227/41‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2172264/1‑51 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg < 1:3782015/70‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc > 1:5097980/1‑71 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc > 1:5073876/1‑71 (MQ=255) gAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTg > 1:761281/1‑71 (MQ=255) aTACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGa < 1:4920252/57‑1 (MQ=255) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:1953064/51‑1 (MQ=255) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt > 1:1709686/1‑63 (MQ=255) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt > 1:3357756/1‑63 (MQ=255) aCCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:52630/50‑1 (MQ=255) cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:1396736/71‑1 (MQ=255) cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:2251261/71‑1 (MQ=255) cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc > 1:5537000/1‑70 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg < 1:94395/71‑1 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:4752809/1‑71 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:1869083/1‑71 (MQ=255) tCATACATTCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:1357500/46‑1 (MQ=255) tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg < 1:632779/59‑1 (MQ=255) tCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCgg > 1:840455/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:5520744/1‑37 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTa > 1:3644727/1‑46 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc > 1:923912/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGAGCAGTGTCTTTAATCGACTCTTTa > 1:2356375/1‑46 (MQ=255) aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc > 1:3962020/1‑69 (MQ=255) tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:1540406/36‑1 (MQ=255) tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:3542633/1‑71 (MQ=255) aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:5546291/1‑70 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:5113304/1‑38 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4151673/1‑69 (MQ=255) cATGCGACCAACCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCga < 1:2594551/71‑1 (MQ=255) cATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGcccta < 1:2485555/71‑3 (MQ=255) aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg > 1:4953611/1‑53 (MQ=255) aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4380865/1‑68 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCaa < 1:3244587/48‑1 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3635020/1‑67 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3080077/1‑67 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:1002154/1‑52 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCt > 1:2186677/1‑60 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCgaga > 1:4028116/1‑70 (MQ=255) ccAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:22761/71‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:867675/70‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa < 1:3437969/71‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa < 1:4491596/71‑1 (MQ=255) aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa > 1:3226887/1‑71 (MQ=255) aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:2231518/54‑1 (MQ=255) aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa < 1:4695923/70‑1 (MQ=255) gCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATaa > 1:5623959/1‑65 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:4376206/1‑43 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:1145620/1‑43 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:4564316/1‑43 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc < 1:4417167/57‑1 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt > 1:2871870/1‑66 (MQ=255) | TCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGC > Exported/2919340‑2919478 |
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: ‑ |