| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,015,613 | A→G | 37.9% | Q206Q (CAA→CAG) | metC → | cystathionine beta‑lyase, PLP‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,015,613 | 0 | A | G | 37.9% | 62.0 / 76.9 | 116 | Q206Q (CAA→CAG) | metC | cystathionine beta‑lyase, PLP‑dependent |
| Reads supporting (aligned to +/- strand): ref base A (21/51); new base G (17/27); total (38/78) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.14e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.81e-01 | |||||||||||
Only 100 of 124 total aligned reads displayed.
TGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGCAAT > minE/2015557‑2015673 | tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:2191550/1‑69 (MQ=255)tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:1965677/1‑69 (MQ=255)tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:902559/1‑69 (MQ=255)tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:276144/1‑69 (MQ=255)tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:1769024/1‑69 (MQ=255)tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:3310937/1‑69 (MQ=255)tGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCaaa > 1:3417085/1‑69 (MQ=255) cTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAat > 1:2347776/1‑55 (MQ=255) cTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAat > 1:2575534/1‑55 (MQ=255) cTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAat > 1:156350/1‑55 (MQ=255) cTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAat < 1:600773/55‑1 (MQ=255) cTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAat < 1:1331059/55‑1 (MQ=255) cTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAat < 1:1042776/55‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCaa < 1:2185658/37‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCaa < 1:2038332/37‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCaa < 1:392435/37‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCaa < 1:679977/37‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCaa < 1:3133690/37‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1349890/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1070193/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1940255/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1913430/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:2961616/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:3045879/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1528634/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:121327/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1600803/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:567928/67‑1 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGa > 1:239309/1‑69 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGa > 1:70599/1‑69 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGa > 1:2850382/1‑69 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGa > 1:1917690/1‑69 (MQ=255) tAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGa > 1:2755589/1‑69 (MQ=255) tAAGGCGCTGGATTTTGGCATAGATGTTTCTATTCaa < 1:196704/37‑1 (MQ=255) gcTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgat < 1:130407/69‑1 (MQ=255) cTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgat < 1:629988/68‑1 (MQ=255) cTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgat < 1:1064920/68‑1 (MQ=255) cTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgat < 1:3202160/68‑1 (MQ=255) tGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgatg < 1:865260/68‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:3303735/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:947001/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:249069/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:2683801/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:634066/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:450356/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:3233730/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1787246/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1952022/58‑1 (MQ=255) ggATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1593154/58‑1 (MQ=255) ggATGTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCa < 1:1469668/58‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:71772/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:2858152/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:2839702/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:1255277/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:2638113/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:1831669/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:1989938/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:825790/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:243145/59‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgatg < 1:621468/66‑1 (MQ=255) gATTTTGGCATCGATGTTTCTATT‑AAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCgatg < 1:2570400/65‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:662774/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:1374049/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:3242803/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:1295595/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:1596769/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:1927653/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:2608376/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:1171736/69‑1 (MQ=255) ttttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTgg < 1:2508662/69‑1 (MQ=255) tttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGc < 1:1915594/69‑1 (MQ=255) tttGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGc < 1:1182721/69‑1 (MQ=255) tttGGCATCGATGTTTCTAATCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGc < 1:2595243/69‑1 (MQ=255) gATGTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGa < 1:1862956/47‑1 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGtgtg > 1:1981105/1‑68 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:3130492/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:524693/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:495319/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:476418/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:1074456/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:163085/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:1822673/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:1840189/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:2612825/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:3066441/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:1859970/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:3024510/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:294230/1‑69 (MQ=255) gTTTCTATTCAGGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCGGTGTGc > 1:2780494/1‑69 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:107053/69‑1 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:3424785/69‑1 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:2103009/69‑1 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:2573821/69‑1 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:3121701/69‑1 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:1761974/69‑1 (MQ=255) gTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGc < 1:1707859/69‑1 (MQ=255) tCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGCaa < 1:2821063/68‑1 (MQ=255) tCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGCaa < 1:253914/68‑1 (MQ=255) tCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGCAAt > 1:2770756/1‑69 (MQ=255) tCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGCAAt > 1:2140365/1‑69 (MQ=255) | TGGGCAGCCGGTGTGCTGTTTAAGGCGCTGGATTTTGGCATCGATGTTTCTATTCAAGCCGCCACCAAATATCTGGTTGGGCATTCAGATGCGATGATTGGCACTGCCGTGTGCAAT > minE/2015557‑2015673 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |