| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,859,163 | A→G | 7.8% | L30L (CTA→CTG) | mutL → | methyl‑directed mismatch repair protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,859,163 | 0 | A | G | 7.8% | 184.3 / 5.5 | 64 | L30L (CTA→CTG) | mutL | methyl‑directed mismatch repair protein |
| Reads supporting (aligned to +/- strand): ref base A (31/28); new base G (3/2); total (34/30) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.76e-01 | |||||||||||
AACTGGCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCG > Exported/2859099‑2859226 | aaCTGGCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGaa < 1:529635/71‑1 (MQ=255)aaCTGGCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGaa < 1:1901265/71‑1 (MQ=255) cTGGCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGaaaa < 1:3672820/71‑1 (MQ=255) cTGGCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGaaaa < 1:3639552/71‑1 (MQ=255) gCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACa < 1:3848910/70‑1 (MQ=255) gCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGCGGAAAACa < 1:1794099/70‑1 (MQ=255) gAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGcc > 1:2065679/1‑71 (MQ=255) gAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGcc > 1:529425/1‑71 (MQ=255) aaCCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCt > 1:736614/1‑71 (MQ=255) aaCCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCt > 1:581840/1‑71 (MQ=255) aCCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTc < 1:1698488/71‑1 (MQ=255) aCCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTc < 1:6889/71‑1 (MQ=255) ccAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTc > 1:1319101/1‑70 (MQ=255) cgccgccGGCGAAGTGGTCGAGCGGCCATCGGCCGTCGTCAAGGAACTGCTGGa < 1:3584429/53‑1 (MQ=255) cgccgccGGCGAAGTGGTCGAGCGGCCATCGGCCGTCGTCAAGGAACTGCTGGa < 1:1217143/53‑1 (MQ=255) ggtgaggtgGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACa < 1:812268/52‑1 (MQ=255) ggtgaggtgGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACa < 1:224757/52‑1 (MQ=255) ggtgaggtgGTCGAGCGACCTGCGGCGGTAGTCAAAGAACTAGTGGAAAACAGc < 1:372837/54‑1 (MQ=255) tgaggtgGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGAcgc > 1:2267150/1‑71 (MQ=255) tgaggtgGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGAcgc > 1:21453/1‑71 (MQ=255) tgaggtgGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGAcgc > 1:2971300/1‑71 (MQ=255) aGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt < 1:2197955/71‑1 (MQ=255) aGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt < 1:2716989/71‑1 (MQ=255) gACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAACCTCGATGCAGGTGCGACGCGTATCGATATTGat < 1:551423/71‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg < 1:4031935/69‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg < 1:3294633/69‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg < 1:4176763/69‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg < 1:439686/69‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg < 1:3930775/69‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg < 1:2476580/69‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGa < 1:435050/70‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGa < 1:836589/70‑1 (MQ=255) cGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGa < 1:3361902/70‑1 (MQ=255) ggTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAAcgcg < 1:112933/71‑1 (MQ=255) ggTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAAcgcg < 1:316779/71‑1 (MQ=255) ggTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAAcgcg < 1:2324644/71‑1 (MQ=255) ggTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAAcgcg < 1:1631892/71‑1 (MQ=255) aGTCAAAGAACTGGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTg > 1:4917600/1‑71 (MQ=255) aGTCAAAGAACTGGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTg > 1:1451861/1‑71 (MQ=255) aGTCAAAGAACTGGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTg > 1:3828844/1‑71 (MQ=255) gTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTgg > 1:844333/1‑71 (MQ=255) gTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTgg > 1:1091760/1‑71 (MQ=255) gTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTgg > 1:2568973/1‑71 (MQ=255) gTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTgg > 1:3007532/1‑71 (MQ=255) tCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTggg > 1:19829/1‑71 (MQ=255) cAAAGAGCTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:1698/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt > 1:2152309/1‑52 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt > 1:960789/1‑52 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt > 1:4649178/1‑52 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt > 1:2637829/1‑52 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATAtt > 1:3176692/1‑52 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCg > 1:4280462/1‑59 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:3573520/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:1904956/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:1847308/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:661111/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:1697155/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:1015304/1‑61 (MQ=255) cAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGaa > 1:341542/1‑61 (MQ=255) aaGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCg < 1:3379426/71‑1 (MQ=255) aGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCg > 1:3412199/1‑70 (MQ=255) aGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCg > 1:174031/1‑70 (MQ=255) aGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCg > 1:3870046/1‑70 (MQ=255) aGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCg > 1:1222718/1‑70 (MQ=255) | AACTGGCGAACCAGATTGCCGCAGGTGAGGTGGTCGAGCGACCTGCGTCGGTAGTCAAAGAACTAGTGGAAAACAGCCTCGATGCAGGTGCGACGCGTATCGATATTGATATCGAACGCGGTGGGGCG > Exported/2859099‑2859226 |
| 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: ‑ |