Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | AP009048 | 3,224,816 | C→T | 8.3% | H147Y (CAT→TAT) | ebgC → | cryptic beta‑D‑galactosidase, beta subunit |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | AP009048 | 3,224,816 | 0 | C | T | 8.3% | 226.8 / 8.1 | 72 | H147Y (CAT→TAT) | ebgC | cryptic beta‑D‑galactosidase, beta subunit |
Reads supporting (aligned to +/- strand): ref base C (41/25); new base T (4/2); total (45/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.39e-01 |
TCGGTTTATCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTACTCATTTTCGGAGAT > AP009048/3224749‑3224884 | tCGGTTTATCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCtata < 1:271747/71‑1 (MQ=255) ggTTTATCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataa < 1:1685032/70‑1 (MQ=255) gTTTATCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataa > 1:3870687/1‑69 (MQ=255) ttATCTGCAATACCGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaa > 1:2260974/1‑70 (MQ=255) ttATCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaa > 1:3386773/1‑71 (MQ=255) aTCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaat < 1:151694/70‑1 (MQ=255) aTCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaat < 1:2635963/70‑1 (MQ=255) cAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaataacaa < 1:2766030/70‑1 (MQ=255) cAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaataac < 1:442754/68‑1 (MQ=255) cAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaataac < 1:3584420/68‑1 (MQ=255) cAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATaacaac < 1:4003499/71‑1 (MQ=255) cAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATaacaac < 1:3537210/71‑1 (MQ=255) aaCGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTAcg > 1:1453213/1‑71 (MQ=255) aCGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTAcgg < 1:2751455/71‑1 (MQ=255) cgcgGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCTATAACAAATAACAACTAcgg < 1:1032309/70‑1 (MQ=255) cgcgGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaa > 1:4171840/1‑57 (MQ=255) gcgGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaat < 1:3897496/58‑1 (MQ=255) ggTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCTATAACAAATAACAACTAcggcgg > 1:3375135/1‑70 (MQ=255) gTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCTATAACAAATAACAACTACggcggc > 1:1263345/1‑70 (MQ=255) gTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACt < 1:2124052/62‑1 (MQ=255) tCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCTGCaa < 1:929530/71‑1 (MQ=255) tCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCaa < 1:194616/71‑1 (MQ=255) aaaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCTATAACAAATAACAACTACGGCGGCaa > 1:4040729/1‑69 (MQ=255) aaaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataa > 1:3013143/1‑47 (MQ=255) aaaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataa > 1:2553802/1‑47 (MQ=255) aaaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCaa > 1:834381/1‑69 (MQ=255) aaaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCaa > 1:990151/1‑69 (MQ=255) aaaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCaa > 1:1805135/1‑69 (MQ=255) aaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaataac < 1:1377931/54‑1 (MQ=255) aaaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAg > 1:3684261/1‑71 (MQ=255) aaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAg > 1:1806231/1‑70 (MQ=255) aaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAg < 1:3387484/70‑1 (MQ=255) aaaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAg > 1:1178370/1‑70 (MQ=255) aaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCataa > 1:3213510/1‑44 (MQ=255) aaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAg > 1:655997/1‑69 (MQ=255) aaaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAg > 1:3097263/1‑69 (MQ=255) aaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGa < 1:4413616/70‑1 (MQ=255) aaGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAg < 1:1091279/71‑1 (MQ=255) aGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCTATAACAAATAACAACTACGGCGGCAAAAGGAGt > 1:4158484/1‑71 (MQ=255) gTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTAc < 1:3887623/55‑1 (MQ=255) ttCTCAAAGTCACCATCGAAGATGGTTATTTCTATAACAAATGACAACTACGGCGGCa < 1:3002063/58‑1 (MQ=255) ttCTCAAAGTCACCATCGAAGATGGTTATTTCCataacaaa < 1:3739539/41‑1 (MQ=255) ttCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgc > 1:208016/1‑70 (MQ=255) tctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACt < 1:2691943/48‑1 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTAcggcg > 1:2817067/1‑53 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCaaaa > 1:2112750/1‑59 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAg > 1:728221/1‑63 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGttt > 1:1612026/1‑66 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgccgc > 1:285983/1‑71 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgccgc > 1:2104156/1‑71 (MQ=255) ctcAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgccgc > 1:4085127/1‑71 (MQ=255) tcAAAGTCACCATCGAAGATGGTTATTTCCataacaaat < 1:95163/39‑1 (MQ=255) cAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATaacaac > 1:3071423/1‑44 (MQ=255) aaaGTCACCATCGAAGATGGTTATTTCCataacaaataacaa > 1:151192/1‑42 (MQ=255) aaaGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGtt < 1:805882/62‑1 (MQ=255) aaaGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgccgcc < 1:3896650/69‑1 (MQ=255) aaaGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCAc > 1:4439396/1‑71 (MQ=255) aaaGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGCCAAAAGGAg > 1:4337260/1‑60 (MQ=255) aaGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCAcc < 1:2999868/71‑1 (MQ=255) aGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACggcggc > 1:432734/1‑50 (MQ=255) aGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACggcggc > 1:2478722/1‑50 (MQ=255) gTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTAc < 1:2441164/43‑1 (MQ=255) tCGAAGATGGTTATTTCCATAACAAATAACAACTa > 1:2244109/1‑35 (MQ=255) cGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTAc > 1:2834917/1‑71 (MQ=255) cGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTAc > 1:1660520/1‑71 (MQ=255) gATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGa > 1:3908379/1‑44 (MQ=255) gATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTACTCAt > 1:2838677/1‑71 (MQ=255) ggTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTACTCAtttt > 1:4146026/1‑71 (MQ=255) ttATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgcc > 1:1415234/1‑46 (MQ=255) ttCCATAACAAATAACAACTACGGCGGCAAAAGGa > 1:3785432/1‑35 (MQ=255) ttCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTACTCATTTTCg > 1:4491756/1‑67 (MQ=255) tCCATAACAAATAACAACTACGGCGGCAAAAGGAGttt > 1:3026130/1‑38 (MQ=255) tCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTACTCATTTTCGGAGAt > 1:1968460/1‑71 (MQ=255) ccATAACAAATAACAACTACGGCGGCAAAAGGAGTTTgccgcc > 1:976036/1‑43 (MQ=255) | TCGGTTTATCTGCAATAACGCGGTCAAAAAAGTGGTTCTCAAAGTCACCATCGAAGATGGTTATTTCCATAACAAATAACAACTACGGCGGCAAAAGGAGTTTGCCGCCACCGCTACCCTACTCATTTTCGGAGAT > AP009048/3224749‑3224884 |
Alignment Legend |
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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: ‑ |