Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 1,363,510 | G→T | A256A (GCG→GCT) | puuC → | gamma‑glutamyl‑gamma‑aminobutyraldehyde dehydrogenase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 1,363,510 | 0 | G | T | 98.1% | 184.0 / ‑2.7 | 53 | A256A (GCG→GCT) | puuC | gamma‑glutamyl‑gamma‑aminobutyraldehyde dehydrogenase |
Reads supporting (aligned to +/- strand): ref base G (0/1); new base T (30/22); total (30/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.34e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.01e-01 |
GCCGGATGGTGTGTTGAACGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCGGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTG > NC_000913/1363378‑1363645 | gCCGGATGGTGTGTTGAACGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACa > 2:1615180/1‑140 (MQ=255) gtgtTGAACGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGaa < 1:1675033/140‑1 (MQ=255) aaCGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGt < 2:230040/140‑1 (MQ=255) aaCGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGt < 2:721440/140‑1 (MQ=255) aaCGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCGGGCGACAGCAACATGAAACGCGt < 2:169189/140‑1 (MQ=255) aCGTGGGGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTc > 2:1700209/1‑140 (MQ=255) cGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTct > 2:935488/1‑140 (MQ=255) cGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTct > 2:141383/1‑140 (MQ=255) gtggtgACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTctg > 2:311579/1‑140 (MQ=255) gtggtgACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTctg > 1:386328/1‑140 (MQ=255) gtggtgACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTctg > 1:319374/1‑140 (MQ=255) ggtgACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTctggc > 1:851400/1‑140 (MQ=255) cGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGt > 1:1028107/1‑130 (MQ=255) cGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGt < 2:1028107/130‑1 (MQ=255) tttGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAgcggg > 1:40034/1‑140 (MQ=255) gTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGggcggc > 2:570241/1‑140 (MQ=255) gTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGggcggc > 1:1373411/1‑140 (MQ=255) tGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCaaaa > 2:34555/1‑140 (MQ=255) gCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAgcgc < 1:512488/140‑1 (MQ=255) gCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACa > 2:180773/1‑140 (MQ=255) aGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATc > 1:45205/1‑140 (MQ=255) tAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGcc < 2:1194293/140‑1 (MQ=255) tAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGcc < 1:376915/140‑1 (MQ=255) tAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGcc < 2:528316/140‑1 (MQ=255) aaCGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGccc < 1:551013/140‑1 (MQ=255) tCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTg < 2:851400/140‑1 (MQ=255) tCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTg > 2:1151489/1‑140 (MQ=255) aCGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGTCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCaa > 1:37325/1‑140 (MQ=255) aCGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCaa > 1:207637/1‑140 (MQ=255) aCGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCaa < 2:45205/140‑1 (MQ=255) ccATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAg > 1:1398799/1‑140 (MQ=255) ccATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAg > 2:649825/1‑140 (MQ=255) tGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAggcgg > 2:904559/1‑140 (MQ=255) tttACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAg > 1:1355651/1‑140 (MQ=255) aCCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAgcgc > 1:1181610/1‑140 (MQ=255) aCCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAgcgc > 2:1370953/1‑140 (MQ=255) ttCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCg > 1:1273280/1‑140 (MQ=255) aaCCCCTACCGGGAAACAGCTCCTGAAAGATGCTGGCGTCGGGAACATGAGACGCGTCTGGCTGGAAGCGGGCGGCAAAATCGCGCACTGCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCACCACCgcag < 2:1650050/140‑1 (MQ=255) cccGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCgcagca > 1:1337948/1‑140 (MQ=255) cccGTACCGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCgcagca > 1:1469114/1‑140 (MQ=255) tccGGGAAACAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGGCACCGCAGCAGGCAt < 2:1590304/139‑1 (MQ=255) aaaCAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTa < 1:1700209/140‑1 (MQ=255) aaaCAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTa < 1:1370953/140‑1 (MQ=255) cAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACaa < 1:935488/140‑1 (MQ=255) cAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACaa < 1:311579/140‑1 (MQ=255) cAGCTGCTGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACaa < 1:180773/140‑1 (MQ=255) gctgctGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAAcc < 1:555458/140‑1 (MQ=255) gctgctGAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAAcc > 2:555458/1‑140 (MQ=255) ctgAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTa < 1:1422356/131‑1 (MQ=255) ctgAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTa > 2:1422356/1‑131 (MQ=255) tgAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGa < 2:1766688/140‑1 (MQ=255) tgAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGa > 1:912446/1‑140 (MQ=255) tgAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGa < 2:1181610/140‑1 (MQ=255) tgAAAGATGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGa < 2:1469114/140‑1 (MQ=255) aTGCTGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGgtg < 1:34555/140‑1 (MQ=255) | GCCGGATGGTGTGTTGAACGTGGTGACGGGTTTTGGTCATGAAGCCGGGCAGGCGCTGTCGCGTCATAACGATATCGACGCCATTGCCTTTACCGGTTCAACCCGTACCGGGAAACAGCTGCTGAAAGATGCGGGCGACAGCAACATGAAACGCGTCTGGCTGGAAGCGGGCGGCAAAAGCGCCAACATCGTTTTCGCTGACTGCCCGGATTTGCAACAGGCGGCAAGCGCCACCGCAGCAGGCATTTTCTACAACCAGGGACAGGTG > NC_000913/1363378‑1363645 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 24 ≤ ATCG/ATCG < 31 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |