Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | USA300TCH1516_ALE | 2,279,705 | G→A | A943V (GCA→GTA) | ebh_3 ← | Extracellular matrix‑binding protein ebh |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | USA300TCH1516_ALE | 2,279,705 | 0 | G | A | 97.7% | 107.6 / ‑6.7 | 44 | A943V (GCA→GTA) | ebh_3 | Extracellular matrix‑binding protein ebh |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (24/19); minor base C (0/1); total (24/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.55e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
CCGTTATTAGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTGCTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAAT > USA300TCH1516_ALE/2279573‑2279834 | ccGTTATTAGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTCAAACGTTGATTAACTTACGATTTATCATTTGCATCATCAGTTGCTGATGTTACtgttgt > 1:325003/1‑140 (MQ=255) ttaTTCTACTTCTTGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTTATTCATCTACACTATAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTg < 1:171593/138‑1 (MQ=255) tGATTCTACTTCTGGTTGACTAGTTTCATCGTTATCCTTTGTCGGACTGTTTGTTGATGCATCTACACTAGCATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTg < 2:185039/140‑1 (MQ=255) tttttcTTTTGGTTTATTTGTTACATCGTTATCCAATGGCGGACTGCTTGTGGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGCTGCTGATGTTCCTTTCGTTTCACCTGTTGCCg < 1:14191/135‑1 (MQ=255) aCTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGATTTGTAATTAGCTTGAGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATc > 1:256610/1‑140 (MQ=255) aCTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTGGCCGCATc > 1:248311/1‑140 (MQ=255) aCTTCGGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACATGTTGCCGCATc > 1:93072/1‑140 (MQ=255) ttCTGGTTTACTAGTTACAGCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCAc < 1:37841/140‑1 (MQ=255) gTTTACTAGTTACATCGTTATCCATTGTCGTTGTGTTTGTTGATGCATCTACACTAGAATTGTTATGAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACtatta < 1:80351/140‑1 (MQ=255) tAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGgt > 1:319206/1‑140 (MQ=255) tACATGGTTATCCATTGTCGGATTGTTTTTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCTTCAGTTTCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGtgttg < 2:213955/140‑1 (MQ=255) acctCGTTATTCCTTGTCGGACTATTCGGTGATGCAGCTACACTAGAACTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGtgttgt < 1:9521/137‑1 (MQ=255) aCATCCTTATACAGTGTCGGACTGTTTGTGGATGCATCTAAACTAAAATTGTTATTTGGTTGGGGTTTATCATTTGCATTATCAGTTGCTGATGTTATTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGtgttgt < 2:46551/140‑1 (MQ=255) ttATCCATTGTCGGACTGTTTGTTGATGCATCTACAATAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTAACATGTTGCAGCATCACTATTATTTTGAGTTGTCGgaga > 2:26233/1‑140 (MQ=255) tATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGaa > 1:250889/1‑140 (MQ=255) tATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGaa > 1:269642/1‑140 (MQ=255) tCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCt < 1:80443/140‑1 (MQ=255) cGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCAATATTATTTGGTGTTGTCGGAAAAGCGTCGGCtt > 2:15754/1‑140 (MQ=255) tttttgATGTATCTACACTAGAACTGTGGCCAGTTTGCGGTTTATCATTTGCATCATCAGTTGCTTATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGTTGTTGTCGGAGAAGCGTCTGCTTTGCCATTa < 2:52373/137‑1 (MQ=255) ttgctaaTGCTTCTACACTAAAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGTTGTTGTTACGGTTGTTTGTCCTGTTGCCGCATCACTATTATTTTGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTa < 2:84044/134‑1 (MQ=255) tggtgATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAg < 1:306901/137‑1 (MQ=255) ttgATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCt > 2:38575/1‑140 (MQ=255) ttgATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCt > 2:256940/1‑140 (MQ=255) ttgATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTACATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCt > 2:168193/1‑140 (MQ=255) tAGAATTGTTATTAGCTTGCAGTTTATCCTTTGCATCATCAGTTGCTGATGTTACTGATGTTTAACATGTTGCCGCATCACTATTATTTCTTGTTGTTGGAGACGCTTCTGTTTTCCCATTAGCTCTTTTCTCAGacaac > 2:127975/1‑136 (MQ=255) gAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCATTATTATTTCGTGTTGTCGGACAAGTGCCTGCTTTGCCATTATCGGTCGTCTCAGATACGtt > 2:316605/1‑140 (MQ=255) gAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGGTGTCGTCTCAGATACGtt > 1:183553/1‑140 (MQ=255) aTTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAg > 1:202782/1‑140 (MQ=255) gTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAggct > 2:125934/1‑138 (MQ=255) tattaGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCATAGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGt > 2:131490/1‑140 (MQ=255) tttATCATTTGGATCGTCAGTTGGTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTg < 2:164279/140‑1 (MQ=255) tttATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGCAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCTGttttttact > 2:153154/1‑137 (MQ=255) tttATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATCCGTTAGGTTGTCCAGTCTTTTCTg > 2:316936/1‑140 (MQ=255) tttATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTATGTTGTCCAGTATTTTCTg > 1:183053/1‑140 (MQ=255) tttATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTACCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTATCTGTCGTCTCAGATACGTTCGCTTGTCCAGTATTTTCTg > 2:137894/1‑140 (MQ=255) ttATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTCAGGTTGTCCAGTATTTTCTgg > 2:13983/1‑140 (MQ=255) tcttttGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGgtgt < 1:264272/137‑1 (MQ=255) tCATTTGCATCATCAGTTGCTGATTTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGgtgt < 1:151207/140‑1 (MQ=255) ttGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCTTCACTATTATTTGGTGTTGTCGGAGAAGCTTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCa < 1:153156/140‑1 (MQ=255) attatcaGTTGCTGATGTTACTGTTTTTTCACTTGTTGCCGCATCATTATTATTTGTTGTTGTCGGAGAAGTGTCTTCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAg < 2:256610/137‑1 (MQ=255) agtatcaGTTTCTGTTGTTATTGTTTTTTCACCTGTTGCCGCATCACCATTATTTGTTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTTTTGCATTAg < 2:93072/137‑1 (MQ=255) ttatcaGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGc < 1:135532/138‑1 (MQ=255) gTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGa > 2:166968/1‑140 (MQ=255) tGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTCTTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAAt < 1:168193/140‑1 (MQ=255) | CCGTTATTAGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTGCTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAAT > USA300TCH1516_ALE/2279573‑2279834 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |