| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,859,245 | G→T | 8.0% | D58Y (GAT→TAT) | mutL → | methyl‑directed mismatch repair protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,859,245 | 0 | G | T | 8.0% | 202.2 / 2.5 | 60 | D58Y (GAT→TAT) | mutL | methyl‑directed mismatch repair protein |
| Reads supporting (aligned to +/- strand): ref base G (26/29); new base T (3/2); total (29/31) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.66e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
TCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGCCACCAGTAAAATCGC > Exported/2859177‑2859315 | tCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTg > 1:3836478/1‑69 (MQ=255) gATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGAt < 1:406181/69‑1 (MQ=255) aTGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAAc > 1:130591/1‑71 (MQ=255) aTGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAAc > 1:2258301/1‑71 (MQ=255) ggTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTg < 1:2459455/71‑1 (MQ=255) gTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGc < 1:161819/71‑1 (MQ=255) tGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCg < 1:1558234/71‑1 (MQ=255) gACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTTAt < 1:2578488/58‑1 (MQ=255) gACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGAt < 1:271142/58‑1 (MQ=255) gACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGAt < 1:3023185/58‑1 (MQ=255) gACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGAt < 1:3549723/58‑1 (MQ=255) tATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCaaaa < 1:1062893/71‑1 (MQ=255) tATCGATATTGATATCGAACGCGCTGGGGCGAAACTTATCCGCATTCGTGATAACGGc < 1:3299992/58‑1 (MQ=255) tCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTg > 1:1694087/1‑58 (MQ=255) tCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTg > 1:648065/1‑58 (MQ=255) tCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATc > 1:2815127/1‑65 (MQ=255) tCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATc > 1:708864/1‑65 (MQ=255) tCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCaaaaaa < 1:3116174/71‑1 (MQ=255) tCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAAAGGCTGCGGTATc > 1:3274321/1‑65 (MQ=255) gATATTGATTTCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCaaaaaa > 1:3488200/1‑69 (MQ=255) gATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCaaaa > 1:2961004/1‑67 (MQ=255) gATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAg < 1:1291797/70‑1 (MQ=255) tatTGATATCGAAGGCGGTGGGGCGAAACTTATCCGCATTCGTTATAACGGCTGCGGTATCAAAAAAGATg < 1:1752094/71‑1 (MQ=255) ttGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACg < 1:3140765/48‑1 (MQ=255) ttGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACg < 1:1329638/48‑1 (MQ=255) gATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACgg > 1:1743386/1‑47 (MQ=255) tatCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgct < 1:2561438/69‑1 (MQ=255) tCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggc < 1:1982026/70‑1 (MQ=255) tCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggc < 1:323500/70‑1 (MQ=255) gAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgct > 1:2513466/1‑71 (MQ=255) aCGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctgg < 1:989286/71‑1 (MQ=255) cgGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggcgc > 1:2912395/1‑71 (MQ=255) cgGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggcgc > 1:2222564/1‑71 (MQ=255) gTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggcgctg < 1:2488797/71‑1 (MQ=255) gTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggcgctg < 1:24332/71‑1 (MQ=255) tGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCTGTATCAAAAAAGATGAgctggcgctggc < 1:2543274/66‑1 (MQ=255) tGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggcgctgg > 1:3366640/1‑71 (MQ=255) tGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggc < 1:1694638/66‑1 (MQ=255) gCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCaaaaaa < 1:3783663/45‑1 (MQ=255) gCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCaaaaaa < 1:2071356/45‑1 (MQ=255) gCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCg > 1:1516590/1‑71 (MQ=255) gAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGt > 1:3076454/1‑70 (MQ=255) aaaCTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCa < 1:2282787/71‑1 (MQ=255) aaaCTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCa > 1:2056984/1‑71 (MQ=255) aaCTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCAt > 1:2787842/1‑71 (MQ=255) aaCTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCAt > 1:2822232/1‑71 (MQ=255) aCTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATg > 1:3156523/1‑71 (MQ=255) aTCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATg < 1:2488477/40‑1 (MQ=255) ccGCAGCCGTTATCACGAATGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGccac > 1:3157880/1‑69 (MQ=25) ccGCAGCCGTTATCACGAATGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGccac > 1:565843/1‑69 (MQ=25) ccGCAGCCGTTATCACGAATGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTAATGccac > 1:697119/1‑69 (MQ=21) cGCATTCGTGATAACGGCTGCGGTATCAAAAAAGAt > 1:2233009/1‑36 (MQ=255) cGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTc > 1:1063579/1‑58 (MQ=255) cGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTc > 1:813939/1‑58 (MQ=255) cGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTc > 1:3607724/1‑58 (MQ=255) ttCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCGGGCTCGTCATGCCACCAGTaaa < 1:202746/71‑1 (MQ=255) tCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggc > 1:729169/1‑45 (MQ=255) tCGTGATAACGGCTGCGGTATCAAAAAAGATGAgctggcgctggc > 1:853705/1‑45 (MQ=255) gTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGCCACCAGTAAAATc < 1:1930307/71‑1 (MQ=255) gTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGCCACCAGTAAAATc < 1:3434049/71‑1 (MQ=255) gTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTAGCGCTGGCTCGTCATGCCACCAGTAAAAt < 1:2082414/70‑1 (MQ=255) gATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGCCACCAGTAAAATCGc > 1:279660/1‑71 (MQ=255) | TCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCGAAACTTATCCGCATTCGTGATAACGGCTGCGGTATCAAAAAAGATGAGCTGGCGCTGGCGCTGGCTCGTCATGCCACCAGTAAAATCGC > Exported/2859177‑2859315 |
| 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: ‑ |