Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 4,941,244 | G→A | 7.2% | T217T (ACG→ACA) | PP_4348 → | cystathionine beta‑lyase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 4,941,244 | 0 | G | A | 7.2% | 152.4 / 3.3 | 56 | T217T (ACG→ACA) | PP_4348 | cystathionine beta‑lyase |
Reads supporting (aligned to +/- strand): ref base G (27/25); new base A (2/2); total (29/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.95e-01 |
ATTTCACCACCCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAAACAGGCAATACATC > NC_002947/4941097‑4941389 | aTTTCACCACCCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACggg < 1:1396026/150‑1 (MQ=255) ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAAc < 2:821624/148‑1 (MQ=255) ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAAc > 1:821624/1‑148 (MQ=255) ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCa > 1:538614/1‑150 (MQ=255) ccaccCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCa > 1:1234552/1‑150 (MQ=255) ctcgctttATCACTCGGCGCGGACATCAGCTTGATTTCAATTAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCAt > 2:409373/7‑150 (MQ=255) ccccTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCAtgt < 1:92587/150‑1 (MQ=255) ccccTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCAtgt < 2:10787/150‑1 (MQ=255) aCTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACg < 2:672389/130‑1 (MQ=255) aCTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACg > 1:672389/1‑130 (MQ=255) cTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCacac < 2:627081/150‑1 (MQ=255) gCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCaa > 2:1023364/1‑150 (MQ=255) ttGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCGGCAGCAAtt > 1:1071429/1‑150 (MQ=255) tttCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGat < 2:538614/150‑1 (MQ=255) aaTGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGatcaat > 2:700284/1‑150 (MQ=255) aaTGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGatcaat > 2:46897/1‑150 (MQ=255) aaTACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGc > 1:963377/1‑150 (MQ=255) aaTACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGc < 1:409373/150‑1 (MQ=255) cACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCg < 2:1294076/148‑1 (MQ=255) cACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCg > 1:1294076/1‑148 (MQ=255) cACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGgc > 2:9339/1‑150 (MQ=255) ggCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCAtt > 2:1314879/1‑149 (MQ=255) ggCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCAtt < 1:1314879/149‑1 (MQ=255) cATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTc < 1:505939/113‑1 (MQ=255) cATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTc > 2:505939/1‑113 (MQ=255) tctctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa < 1:46897/150‑1 (MQ=255) tctctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa < 1:700284/150‑1 (MQ=255) ctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGa < 2:1234552/150‑1 (MQ=255) ctctcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGa < 2:963377/150‑1 (MQ=255) tcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCacac > 1:1409915/1‑86 (MQ=255) tcGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCacac < 2:1409915/86‑1 (MQ=255) gAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTc < 1:158037/138‑1 (MQ=255) gAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTc > 2:158037/1‑138 (MQ=255) ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGc < 2:1045309/77‑1 (MQ=255) ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGc > 1:1045309/1‑77 (MQ=255) ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa > 2:674344/1‑133 (MQ=255) ataaCCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCaaa < 1:674344/133‑1 (MQ=255) ccAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGc < 1:1575181/65‑1 (MQ=255) ccAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGc > 2:1575181/1‑65 (MQ=255) aaGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACtt > 1:644772/1‑150 (MQ=255) gAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGCGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGaa > 2:374922/1‑150 (MQ=255) gAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGaa < 1:1023364/150‑1 (MQ=255) tCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCaa < 1:9339/150‑1 (MQ=255) gtatgtaAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGat < 2:1435910/77‑1 (MQ=255) gtatgtaAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGat > 1:1435910/1‑77 (MQ=255) aaaCCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGcc > 2:1149346/1‑150 (MQ=255) aCCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCctc < 1:1149346/150‑1 (MQ=255) cTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTc > 2:1260483/1‑135 (MQ=255) cTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTc < 1:1260483/135‑1 (MQ=255) ttAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCttt > 2:1308347/1‑150 (MQ=255) aaaCCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGc > 2:1064726/1‑71 (MQ=255) aaaCCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGc < 1:1064726/71‑1 (MQ=255) aaCCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTaaa > 1:947974/1‑150 (MQ=255) cATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAACCAGGCAATAc > 2:133012/1‑150 (MQ=255) aTTAACAGGCAACCATGTGAGGTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc < 1:311674/128‑1 (MQ=255) aTTAACAGGCAACCATGTGAGGTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc > 2:311674/1‑128 (MQ=255) aTTAACAGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc < 1:311690/128‑1 (MQ=255) aTTAACAGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGc > 2:311690/1‑128 (MQ=255) tAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAAACAGGCAATACATc < 2:644772/150‑1 (MQ=255) | ATTTCACCACCCCTTATCACTCGGCGCGGACATCAGCTTGATTTCAATGAGCAAATACCACGGGGCTGTAGAGGGCATCTCTCTCGGAGCACTAATAACCAAGCGAAAAGATCTGTATGTAAACCTTAAAACCACCTCCGCATTAACGGGCAACCATGTGAGCTCACACGCCTGCTCAGCAGCAATTCGATCAATCAGCACGCTCGGCGCTCGCCTATCATTTCAAATGAGTACGACTCGCAAGGTACTTAGAAGCCTCAAGCCACTGCCTCTTTTAAAACAGGCAATACATC > NC_002947/4941097‑4941389 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |