| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,516 | T→A | 10.0% | R60R (CGA→CGT) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,516 | 0 | T | A | 10.0% | 192.5 / 12.2 | 70 | R60R (CGA→CGT) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (24/39); new base A (4/3); total (28/42) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.26e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.92e-01 | |||||||||||
TGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTAC > Exported/2919448‑2919586 | tGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCg > 1:1068306/1‑71 (MQ=255) ggCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg > 1:3526600/1‑71 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg < 1:2442436/71‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg < 1:1966752/71‑1 (MQ=255) gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCg < 1:611773/69‑1 (MQ=255) gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAc > 1:2321300/1‑71 (MQ=255) gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAc > 1:294372/1‑71 (MQ=255) ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa < 1:3011489/69‑1 (MQ=255) ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAc < 1:225641/70‑1 (MQ=255) cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt < 1:2761645/71‑1 (MQ=255) cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt < 1:3653549/71‑1 (MQ=255) cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt < 1:2791414/71‑1 (MQ=255) tAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga > 1:3525748/1‑62 (MQ=255) aaGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTaag > 1:260340/1‑53 (MQ=255) aaGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt < 1:2284979/68‑1 (MQ=255) aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg < 1:2312854/70‑1 (MQ=255) tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAg < 1:1332328/71‑1 (MQ=255) tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAg < 1:1998683/71‑1 (MQ=255) aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt > 1:3582407/1‑71 (MQ=255) cgcgAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGAt > 1:74931/1‑70 (MQ=255) cgcgAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATg < 1:3246999/71‑1 (MQ=255) gcgAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGa < 1:1391439/71‑1 (MQ=255) cgAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt < 1:72319/60‑1 (MQ=255) cgAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCgtttt > 1:3572287/1‑61 (MQ=255) cTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGt < 1:2590765/71‑1 (MQ=255) cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACgagtcgagtc < 1:1400118/48‑1 (MQ=255) cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACgagtcgagtc < 1:531663/48‑1 (MQ=255) cTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACgagtcgagtc < 1:646074/48‑1 (MQ=255) ggTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttt > 1:2925252/1‑71 (MQ=255) ggTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCt > 1:2238460/1‑47 (MQ=255) gTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgag < 1:1048188/38‑1 (MQ=255) gTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgag < 1:1074302/38‑1 (MQ=255) gTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtttt > 1:222597/1‑71 (MQ=255) tCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGtttt > 1:1740356/1‑70 (MQ=255) aaatGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAc > 1:3061501/3‑71 (MQ=255) tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa < 1:1572954/50‑1 (MQ=255) tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAc < 1:843480/70‑1 (MQ=255) tatGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTAc > 1:716359/1‑70 (MQ=255) atGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGa > 1:153035/1‑48 (MQ=255) atGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGa > 1:2036863/1‑60 (MQ=255) tGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAg < 1:2836946/71‑1 (MQ=255) gCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGt > 1:2908965/1‑71 (MQ=255) gCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGt > 1:2559957/1‑71 (MQ=255) cGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa > 1:817938/1‑45 (MQ=255) ggCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGt < 1:1236639/59‑1 (MQ=255) ggCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGt > 1:2583374/1‑69 (MQ=255) ggCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGa < 1:3315427/71‑1 (MQ=255) gCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAg < 1:2419238/71‑1 (MQ=255) gCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAg < 1:2327815/71‑1 (MQ=255) gCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAg < 1:2241585/71‑1 (MQ=255) aaCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGtt < 1:2763487/71‑1 (MQ=255) aaCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGtt < 1:192883/71‑1 (MQ=255) aaCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGtt > 1:1379357/1‑71 (MQ=255) aCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa > 1:645011/1‑40 (MQ=255) aCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGttt > 1:224616/1‑71 (MQ=255) aCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGttt < 1:30139/71‑1 (MQ=255) aCTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGttt < 1:1921617/71‑1 (MQ=255) cTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGttttt < 1:317065/58‑1 (MQ=255) cTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTg > 1:327569/1‑71 (MQ=255) ttCGAAAGAGCATCGGGTACGAGTCGAGTCttttt > 1:2097418/1‑35 (MQ=255) cGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAg > 1:439191/1‑38 (MQ=255) gAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGctt < 1:1164146/71‑1 (MQ=255) aaaGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttc < 1:1305778/71‑1 (MQ=255) aaGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttct < 1:2267244/71‑1 (MQ=255) aaGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttct > 1:2105085/1‑71 (MQ=255) gagCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttc < 1:596619/71‑1 (MQ=255) gagCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttc < 1:1808294/71‑1 (MQ=255) gCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGAt < 1:1202676/42‑1 (MQ=255) gCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttctt < 1:1027863/71‑1 (MQ=255) gCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGcttcttctt < 1:2153693/71‑1 (MQ=255) tCGGGTACGAGTCGAGTCTTTTTCGTAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTAc > 1:1903028/1‑71 (MQ=255) tCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTAc < 1:439332/71‑1 (MQ=255) | TGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTAC > Exported/2919448‑2919586 |
| 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: ‑ |