| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,781,153 | G→C | 7.8% | E710Q (GAA→CAA) ‡ | metH → | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,781,153 | 0 | G | C | 7.8% | 160.8 / 4.3 | 51 | E710Q (GAA→CAA) ‡ | metH | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Reads supporting (aligned to +/- strand): ref base G (16/31); new base C (2/2); total (18/33) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.07e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.08e-01 | |||||||||||
ACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCG > Exported/2781084‑2781222 | 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 < 1:1301317/58‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGa < 1:49677/58‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGtt < 1:2777277/70‑1 (MQ=255) aaGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGtt < 1:2783293/70‑1 (MQ=255) atcgAAGGTCCGCTGATGGACGGCATGAACATAGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGc > 1:884485/4‑70 (MQ=255) aTTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGc < 1:875379/70‑1 (MQ=255) ttGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCca < 1:1020590/71‑1 (MQ=255) aaGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCcaca < 1:3406984/70‑1 (MQ=255) gCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAggtg > 1:1462404/1‑71 (MQ=255) gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg < 1:1527793/65‑1 (MQ=255) gTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg < 1:952714/65‑1 (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 < 1:1788755/71‑1 (MQ=255) tGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCg < 1:1894212/71‑1 (MQ=255) gACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCgg > 1:812178/1‑70 (MQ=255) gCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGgcgcgc < 1:826985/71‑1 (MQ=255) gCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTCGgcgcgc < 1:1034951/71‑1 (MQ=255) gCATGAACATCGTCGGCGACCTGTTCGGCCAGGGCAAGATGTTCCTGCCGCAGGTGGTCAAGTCGgcgcgc < 1:1740951/71‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg < 1:2642609/47‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa < 1:1450233/71‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa < 1:1900722/71‑1 (MQ=255) tgtgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTC‑‑‑CCACAGGTGGTCAAATCGGCGCGCGTCATGaaa < 1:1843971/70‑1 (MQ=255) tgGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa < 1:1982279/71‑1 (MQ=255) ggCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAgg > 1:2538665/1‑40 (MQ=255) ggCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGc < 1:3303601/71‑1 (MQ=255) gCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt > 1:1767415/1‑48 (MQ=255) gCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAAt > 1:3273683/1‑48 (MQ=255) gACCTGTTTGGCGAAGTGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGa < 1:2693425/61‑1 (MQ=255) gACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGt < 1:2160797/71‑1 (MQ=255) gTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTg < 1:271049/67‑1 (MQ=255) tttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa > 1:547654/1‑39 (MQ=255) tttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa > 1:612072/1‑39 (MQ=255) tttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCaaa > 1:1837275/1‑39 (MQ=255) ttGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCAAGAAACAGGCGGTGGCCTAc > 1:2891284/1‑71 (MQ=255) tGGCGAATGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTAc < 1:775866/70‑1 (MQ=255) tGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa > 1:2994018/1‑55 (MQ=255) tGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGaaa > 1:943210/1‑55 (MQ=255) cGAAGTGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCg < 1:2847396/71‑1 (MQ=255) cGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCg < 1:1118593/71‑1 (MQ=255) cGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCg < 1:1931568/71‑1 (MQ=255) | ACGCGCCCGATTGAAGTGATTGAAGGCCCGTTGATGGACGGCATGAATGTGGTCGGCGACCTGTTTGGCGAAGGGAAAATGTTCCTGCCACAGGTGGTCAAATCGGCGCGCGTCATGAAACAGGCGGTGGCCTACCTCG > Exported/2781084‑2781222 |
| 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: ‑ |