| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,781,132 | G→A | 12.7% | V703M (GTG→ATG) | metH → | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,781,132 | 0 | G | A | 12.7% | 150.5 / 12.6 | 55 | V703M (GTG→ATG) | metH | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Reads supporting (aligned to +/- strand): ref base G (16/32); new base A (2/5); total (18/37) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.79e-01 | |||||||||||
CGAAGAAGCCCGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAA > Exported/2781062‑2781203 | cGAAGAAGCCCGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAAtg < 1:2596858/71‑1 (MQ=255) aagaagCCCGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAAtgtg > 1:305946/1‑71 (MQ=255) gaagCCCGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGt > 1:3442593/1‑71 (MQ=255) gCCCGCCAGCAGGCTACGCGCCCGATT‑AAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGc > 1:3098784/1‑71 (MQ=255) ccGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCg < 1:3446267/71‑1 (MQ=255) ccGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCg < 1:2000690/71‑1 (MQ=255) ccGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCg < 1:744805/71‑1 (MQ=255) ccGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCg < 1:757556/71‑1 (MQ=255) gCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGAc > 1:1717546/1‑71 (MQ=255) ccAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGAcc > 1:2535783/1‑71 (MQ=255) ccAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGAcc > 1:2643959/1‑71 (MQ=255) ccAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGAcc > 1:2208068/1‑71 (MQ=255) agGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGttt < 1:2590779/71‑1 (MQ=255) agGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGttt < 1:1363359/71‑1 (MQ=255) ggCTACTCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTg < 1:2212796/71‑1 (MQ=255) ggCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTg < 1:2001757/71‑1 (MQ=255) aCGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCg > 1:3354002/1‑70 (MQ=255) gcgcCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAg > 1:2644149/1‑71 (MQ=255) gcCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAggg < 1:2483070/71‑1 (MQ=255) ccGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGaa < 1:1603137/71‑1 (MQ=255) gATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGaaaa > 1:3321140/1‑71 (MQ=255) aTTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGaaaa > 1:1372411/1‑70 (MQ=255) aTTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAAt > 1:2516836/1‑71 (MQ=255) ttGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATg < 1:2256499/71‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGa < 1:49677/58‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGa < 1:1301317/58‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGtt < 1:2777277/70‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGtt < 1:2783293/70‑1 (MQ=255) gATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGttt < 1:2017253/49‑1 (MQ=255) atcgAAGGTCCGCTGATGGACGGCATGAACATAGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGc > 1:884485/4‑70 (MQ=255) aTTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGc < 1:875379/70‑1 (MQ=255) ttGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGttt < 1:139670/47‑1 (MQ=255) ttGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGttt < 1:435021/47‑1 (MQ=255) ttGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGttt < 1:1313610/47‑1 (MQ=255) ttGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCca < 1:1020590/71‑1 (MQ=255) tcgAAGGTCCGCTGATGGACGGCATGAACATCGTCGGCGACCTGt < 1:906335/43‑1 (MQ=255) tcgAAGGTCCGCTGATGGACGGCATGAACATCGTCGGCGACCTGt < 1:2674726/43‑1 (MQ=255) tcgAAGGTCCGCTGATGGACGGCATGAACATCGTCGGCGACCTGt < 1:2727152/43‑1 (MQ=255) aaGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCcaca < 1:3406984/70‑1 (MQ=255) gCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTg < 1:49353/38‑1 (MQ=255) gCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTg < 1:2202414/38‑1 (MQ=255) gCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAggtg > 1:1462404/1‑71 (MQ=255) gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTgg > 1:1731850/1‑39 (MQ=255) gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTgg > 1:1076102/1‑39 (MQ=255) gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg < 1:952714/65‑1 (MQ=255) gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg < 1:1527793/65‑1 (MQ=255) gATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCgaa < 1:1490680/70‑1 (MQ=255) gATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa < 1:466091/70‑1 (MQ=255) gATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt > 1:2337072/1‑71 (MQ=255) aTGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt < 1:1896038/70‑1 (MQ=255) aTGGACGGCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTc > 1:3052628/1‑71 (MQ=255) tGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCg < 1:1894212/71‑1 (MQ=255) tGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCg < 1:1788755/71‑1 (MQ=255) gACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCgg > 1:812178/1‑70 (MQ=255) gCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGgcgcgc < 1:826985/71‑1 (MQ=255) gCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTCGgcgcgc < 1:1740951/71‑1 (MQ=255) gCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTCGgcgcgc < 1:1034951/71‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg < 1:2642609/47‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa < 1:1900722/71‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa < 1:1450233/71‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTC‑‑‑CCACAGGTGGTCAAATCGGCGCGCGTCATGaaa < 1:1843971/70‑1 (MQ=255) | CGAAGAAGCCCGCCAGCAGGCTACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAA > Exported/2781062‑2781203 |
| Alignment Legend |
|---|
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: ‑ |