| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 1,847,181 | C→A | 34.9% | H312Q (CAC→CAA) | iap → | aminopeptidase in alkaline phosphatase isozyme conversion |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 1,847,181 | 0 | C | A | 34.9% | 130.8 / 83.7 | 120 | H312Q (CAC→CAA) | iap | aminopeptidase in alkaline phosphatase isozyme conversion |
| Reads supporting (aligned to +/- strand): ref base C (53/25); new base A (26/16); total (79/41) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.48e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.65e-01 | |||||||||||
Only 100 of 126 total aligned reads displayed.
CAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGTTATGCGGATAATGC > minE/1847116‑1847248 | cAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:967756/69‑1 (MQ=255)cAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:558057/69‑1 (MQ=255)cAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:2188847/69‑1 (MQ=255)cAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:1705044/69‑1 (MQ=255)cAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:1465775/69‑1 (MQ=255)cAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:2707557/69‑1 (MQ=255) aaCGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCaa < 1:1549724/68‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTTCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1379946/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1244246/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:3120967/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1881844/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:2873423/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:144535/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1121742/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1471977/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1100448/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1515332/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAACAGCatat < 1:1887768/69‑1 (MQ=255) cgcAAAAACAGCCGCATTCCCTGCGGGAAATAGCTGGCATCACGTAAGACTGGATAATCAACAGCatat < 1:293795/69‑1 (MQ=255) cgcAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAcc < 1:3065601/62‑1 (MQ=255) cgcAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAcc < 1:810524/62‑1 (MQ=255) cgcAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAcc < 1:1498847/62‑1 (MQ=255) cgcAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAcc < 1:1498220/62‑1 (MQ=255) cAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTg < 1:2279696/69‑1 (MQ=255) tGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGctct > 1:323879/1‑69 (MQ=255) gCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCAcc < 1:1770788/49‑1 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:1022419/1‑68 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:128503/1‑68 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:1719556/1‑68 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:1096396/1‑68 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:285036/1‑68 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:2838386/1‑68 (MQ=255) ttCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTcc > 1:2784096/1‑68 (MQ=255) aaTAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGaa > 1:1585392/1‑69 (MQ=255) aaTAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGaa > 1:3123321/1‑69 (MQ=255) gCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAg > 1:1847969/1‑44 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:2187337/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:2280977/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:431848/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:200079/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:1791680/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:799681/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:318301/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:3417945/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:1422302/1‑69 (MQ=255) aTGACGTAAGACTGGATAATCACCAACATATTGAT‑AGGCTCTTCCTGGAAGAATAGAACGTCGCTGcc > 1:2773870/1‑68 (MQ=255) aCGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTg > 1:505127/1‑69 (MQ=255) aCGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTg > 1:1698651/1‑69 (MQ=255) aCGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTg > 1:956246/1‑69 (MQ=255) aCGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTg > 1:2927616/1‑69 (MQ=255) aCGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTg > 1:3358850/1‑69 (MQ=255) aCGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTg > 1:360800/1‑69 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:357888/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:3430403/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:3353613/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:3296411/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2896468/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:3062606/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:3162631/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2970602/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2144691/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1653844/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:964718/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1726470/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1726814/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:673970/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1858509/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1898800/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2166947/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2290092/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2414164/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1364074/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1348644/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:1331315/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2630414/1‑67 (MQ=255) tAAGACTGGATAATCAACAGCATATTGATAAGGCACTTCCTGGAAGAATAGAACGTCGCTGCCGTGat > 1:2654984/1‑67 (MQ=255) aaGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt < 1:1620158/69‑1 (MQ=255) aaGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt < 1:325826/69‑1 (MQ=255) gACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt > 1:3319226/1‑67 (MQ=255) gACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt > 1:279393/1‑67 (MQ=255) gACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt > 1:3216789/1‑67 (MQ=255) gACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt > 1:2468671/1‑67 (MQ=255) gACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGt > 1:2583032/1‑67 (MQ=255) aCCAACATATTGATAAGTCTCTTCCTGGAAGAATAGAACGTc < 1:3429489/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:625817/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc < 1:504568/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:2380438/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc < 1:3269859/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc < 1:2875969/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:2779004/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc < 1:2418697/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:2208833/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc < 1:215652/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:1955027/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:1790628/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:1761554/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:1672652/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc < 1:1627867/42‑1 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTc > 1:1371312/1‑42 (MQ=255) aCCAACATATTGATAAGGCTCTTCCTGG‑AGAATAGAACGTc < 1:1084185/41‑1 (MQ=255) | CAACGCGCAAAAACACCTGCCTTCCCGGCGGGAAATAGCTGGCATGACGTAAGACTGGATAATCACCAACATATTGATAAGGCTCTTCCTGGAAGAATAGAACGTCGCTGCCGTGACGTTATGCGGATAATGC > minE/1847116‑1847248 |
| 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: ‑ |