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 | 96.9% | 78.7 / NA | 32 | A943V (GCA→GTA) | ebh_3 | Extracellular matrix‑binding protein ebh |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (12/19); minor base C (0/1); total (12/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
AGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTGCTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAATTTGCTGT > USA300TCH1516_ALE/2279581‑2279841 | acctGATTCGACTTCTGGTTTACTAGTCACATCGTTACCCATTGTCGGACTGTTTGTTGATGCTTCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCGGATGTTACTGTTGTTTCACCTGt < 1:140735/138‑1 (MQ=255) ttGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTg < 1:23633/141‑1 (MQ=255) taTTCTTCTTCTGGTTTGCTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACATTAGAATTGTTGTTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTggc < 2:139553/140‑3 (MQ=255) gATTCTACTTCTGGTTTACTCGTTACATCGTGATCCATTGTCGGACTGGTTGTTGATGCATCTACACTAGAATTGTTCTTCGCTTGCCGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGcc < 1:312336/141‑1 (MQ=255) ttCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGc < 1:281021/141‑1 (MQ=255) aCTGCTGGTTTAATAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATACATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATTTTACCGTTTTTTCACCTGTTGCCGCATCa > 2:134472/1‑141 (MQ=255) tCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACta > 1:212462/1‑141 (MQ=255) cTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTTCATCATCAGTTGCTGATGTTACTGTTGTTTCCCCTTTTGCCTCATCTCtat > 2:7527/1‑141 (MQ=255) cTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGTTGATGTTACTGTTGTTTCACATTTTGCCGAATCACtat > 2:94909/1‑141 (MQ=255) tGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACtatt > 2:206430/1‑141 (MQ=255) gTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGAATCATCAGTTACTGATGTTACTGTTGTTTCACATGTTGACGCATCACtattat > 1:109145/1‑141 (MQ=255) tACTAGTTATTGTGTTATCCAGTGTCTGGCTGTTTGTTTATGCATCTATACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTTCTGAGGTTCCTGTTGGTTCAACTGTTGCCGCAGCACGATTATTTg < 2:28634/141‑1 (MQ=255) tACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTATCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTg < 2:205635/141‑1 (MQ=255) ttgttgATGCTTCTTCATTAGACTTCTTACTAGCTTGCGGTTTATCATTTGCCTCATCAGCTGCTCATGTTACTGTCGTTTCACCTGTTGCCGCCTCTCTATTCTTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAg < 2:223995/141‑1 (MQ=255) gttgATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGTAGCGTCTGCTTTGCCATTAGCt > 1:112409/1‑141 (MQ=255) gATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTgtc < 1:25166/141‑1 (MQ=255) ttcATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCAGCATCAGTGGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTgtcgt < 1:118574/139‑1 (MQ=255) cacTGGAATTTTTATTAGGATGCGGTTTATCATTTGTATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATa < 2:258065/141‑1 (MQ=255) cTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACg > 1:32880/1‑141 (MQ=255) aGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGt > 1:170408/1‑141 (MQ=255) ttGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATCCGTTCGGTTGTCCAGTAtt > 1:112423/1‑141 (MQ=255) ttATCATTTGCATCATCAGTTGCTGATGGTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGgt < 1:155932/141‑1 (MQ=255) aTCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTTGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGgtgt < 2:212462/141‑1 (MQ=255) tttGCATGATCAGTTGCTTATGTTACTGTTGTTTCACTTGTTGCCGCATCACTATTGTTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCTTTAGCTGTCGTCTCAGTTACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCa < 2:74689/141‑1 (MQ=255) tGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCAtt > 1:209584/1‑141 (MQ=255) tGCATCATCAGTTGCTGATGTTACGGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCAtt < 1:40086/141‑1 (MQ=255) tcatcaGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTTTATTAGCa > 2:191609/1‑141 (MQ=255) tcaGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCAttt < 2:202440/141‑1 (MQ=255) ggtGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGaa < 1:213790/139‑1 (MQ=255) ttGCTGATGGTACTGTTGTTTCACCTGTTGCCGCGTCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAAt < 2:250034/141‑1 (MQ=255) tGATGTTACTGTTGTTTCCCCTGTTCCCTCATCACGATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAATTTGc < 1:302043/141‑1 (MQ=255) gATGTTACTGTTGTTTCGTCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATAAGGTGTTGTCTCAGCTACGTGAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAATTTGCt < 2:21523/141‑1 (MQ=255) ttttgttgttgTTTCACTTGTTGCCTCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAATTTGCTGt < 2:316568/139‑1 (MQ=255) | AGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTGCTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCATTTGAATTTGCTGT > USA300TCH1516_ALE/2279581‑2279841 |
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: ‑ |