Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,197,502 | C→T | G11R (GGA→AGA) | ymfD ← | e14 prophage; putative SAM‑dependent methyltransferase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,197,502 | 0 | C | T | 98.0% | 160.9 / ‑5.5 | 53 | G11R (GGA→AGA) | ymfD | e14 prophage; putative SAM‑dependent methyltransferase |
Reads supporting (aligned to +/- strand): ref base C (1/0); major base T (24/26); minor base G (0/1); total (25/28) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.62e-01 |
AATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTGA > NC_000913_3_hsa_tpiA/1197363‑1197646 | aaTTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCAtatt < 2:249874/149‑1 (MQ=255) tcaGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGtt < 2:484780/149‑1 (MQ=255) aaTATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCaaa > 1:294903/1‑149 (MQ=255) tCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCaa < 1:394740/149‑1 (MQ=255) cTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAg > 1:489037/1‑149 (MQ=255) tAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATATAGAG‑GGCATCGTCTGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGt > 2:214223/1‑149 (MQ=255) aaGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTa > 1:543222/1‑149 (MQ=255) ttttCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCa < 1:431384/149‑1 (MQ=255) tCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTc < 1:811193/149‑1 (MQ=255) ccAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAAt < 2:1122424/149‑1 (MQ=255) tCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTAtt > 1:244195/1‑149 (MQ=255) tCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTAtt > 1:244180/1‑149 (MQ=255) aaGGTCGCGGCCAGTTTCGTCAATGCTTCTAATATACTAGAAAAGATATGTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTATCTGAGCGAATA‑TTAACTCTGTGCAGATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTAtttt < 2:705576/149‑1 (MQ=255) tGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGaa > 1:1070920/1‑149 (MQ=255) cATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAAt > 1:318526/1‑149 (MQ=255) tttttCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTc < 2:294903/149‑1 (MQ=255) ttttCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTGTTGCTGCATTCTCTGAGCGAATA‑TTAACTCGGTGTATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCt < 1:1287452/149‑1 (MQ=255) tcAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttat > 1:1389653/1‑149 (MQ=255) cAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttatt < 2:6610/149‑1 (MQ=255) cTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGAATTATATAAATAAATACTTGCCTCCATG‑ATAAAATAGTTCAAAGCAAATACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATc > 1:1057375/1‑149 (MQ=255) tAATATACTCGCAAAGAGTTCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTCCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTcc < 2:316066/149‑1 (MQ=255) aaTATACTTGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCg < 2:98669/149‑1 (MQ=255) aaTATACTCGTAAAGAAATC‑AGAGAGACATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCg < 1:839376/149‑1 (MQ=255) tataCTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCggg > 1:416078/1‑149 (MQ=255) tCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTCTCTTCCGGGttttc > 2:1365500/1‑148 (MQ=255) tCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCTGGGTtttt > 2:1289331/1‑149 (MQ=255) tCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACAATTCAATTAATGTTATTTTTAGTGAAAAATTCTGTTATTTTATTGTCTGGGAtttt > 2:1342513/1‑149 (MQ=255) ggtatCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCgact < 2:815485/147‑1 (MQ=255) ttAGAG‑GGGTGCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAAATCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTAGTACTCCGGGGTTTTTCCgacttgact < 2:95703/148‑1 (MQ=255) tAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCtttt > 2:679651/1‑116 (MQ=255) tAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCtttt < 1:679651/116‑1 (MQ=255) ggCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttatttta < 1:1074396/117‑1 (MQ=255) ggCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttatttta > 2:1074396/1‑117 (MQ=255) aTCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATATTTAGTGAAAAATTCTTTTATTTTATTGTCCGGGATTTTTCCGACTTGACTTTCAGTTCt > 2:1103018/1‑149 (MQ=255) tCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTg < 2:1389653/149‑1 (MQ=255) cGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATTTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTgg < 2:87450/149‑1 (MQ=255) cGTATGAGGTTTTGCTGCAGTCTCTGAGCGAATA‑TTAACTCAGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGTGATTTTTCCGACTTGACTTTCAGTTCTgg < 2:951879/149‑1 (MQ=255) gAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGTGATTTTTCCGACTTGACTTTCTGTTATGTGCTTa > 2:1323531/1‑149 (MQ=255) ggTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAAc < 2:1217135/149‑1 (MQ=255) gTTTTGCTGTATTCTCTGAGCGAATA‑TTAACTCTGTGGATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACt < 2:466291/149‑1 (MQ=255) gTTGTGCTGCATTCTCGCAGCGAATA‑TTAAGTCTGTGCATATTATAGTTAAAAGCAAGTAACATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACt < 2:468129/149‑1 (MQ=255) ctgcATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTa > 1:1080329/1‑54 (MQ=255) ctgcATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTa < 2:1080329/54‑1 (MQ=255) tgcATTCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaag > 1:804423/1‑149 (MQ=255) ttCTCTGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaagcaaa > 1:853612/1‑149 (MQ=255) tctGAGCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGat > 1:349372/1‑149 (MQ=255) aGCGAATA‑TTAACTCTGTGCGTATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGAATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGataata < 2:391355/149‑1 (MQ=255) gCGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATAc < 2:479537/149‑1 (MQ=255) cGAATA‑TTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATAcc > 1:668849/1‑149 (MQ=255) ttAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACcactcac > 1:58588/1‑149 (MQ=255) tAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGCGACGGTTTCATTTATTTTCCCTTTCAGGATTTTTCCGACTTGACTGTCAGTACTGTGCTTAACTGTCAAAGCAAAGATAATACcactcact > 1:702641/1‑149 (MQ=255) aCTCTGTGCATATTATAGTTCAAAGCAAGTATCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTga < 2:244195/149‑1 (MQ=255) aCTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTga < 2:244180/149‑1 (MQ=255) | AATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAG‑GGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATA‑TTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTGA > NC_000913_3_hsa_tpiA/1197363‑1197646 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |