| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| 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... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | USA300TCH1516_ALE | 2,279,705 | 0 | G | A | 97.0% | 75.8 / NA | 33 | A943V (GCA→GTA) | ebh_3 | Extracellular matrix‑binding protein ebh |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (15/17); minor base C (1/0); total (16/17) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.85e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
TAGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTGCTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCAT > USA300TCH1516_ALE/2279580‑2279828 | taGTCGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGTCTGTTTGTTTATGCATTTACTCTAGAATTGTTATTAGGTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACtg < 1:154535/129‑1 (MQ=255) aGTTGATTCTACTTCTGGGTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAAAATTGTTATTAGCTTGCGGTTTAGCATTAGCATCCTCAGTTGCTGATGTTACtgt > 2:3906/1‑129 (MQ=255) aGTTGATTCTACTTCTGGATTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTCCtgt > 2:33080/1‑129 (MQ=255) ttGATTCTACTTCTGGTTTTCTAGTTATAGCGGTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGTATTGTTATTAGCTTGCGGTTTATCATTTGTATCATCAGTTGCTGATGTTACtgttg < 2:128935/129‑1 (MQ=255) tCTACTTCTGGATTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATAATCAGATGCTGATATTACTGTTGTTTCa > 2:65284/1‑129 (MQ=255) ttCTGGTGTGCTTGTTACGTCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACATTAGAATTGTTATTAGCTTGCGGTTTATCAGGGGGTGCATTAGTTGCTGTTGTTACTGGTGTTTCACCTGt < 2:95643/129‑1 (MQ=255) cTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTATTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTGATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTg > 1:20022/1‑129 (MQ=255) ggTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGca > 1:231973/1‑128 (MQ=255) tttACTAGTTACATCGTTATCCATTGTCGTACTGTTTGTTGATGCATCTATACTTCAGGTGTTGTTGTCTTGCGGTTTTTCATTTGCATCATCAGTTGCTGAGGTTACTGTTGTTTCACCTGTTGCCGc < 1:109687/129‑1 (MQ=255) aCATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTAGACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACTTGTTTCCGCATCACtatta > 2:195461/1‑129 (MQ=255) tgcATTGTCGGGCTGTTTGTTGATGAATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGtgtt < 2:212250/127‑1 (MQ=255) tCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTCTTTGGtgtt > 2:102971/1‑129 (MQ=255) aTTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGTGGTTTATCTTTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTc < 1:96781/129‑1 (MQ=255) tCGGACTGTTCGCTCATACAAATTCACTAGAATGGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGgag > 2:193378/1‑129 (MQ=255) cgtttgttGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCCTTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGt > 2:219640/2‑129 (MQ=255) gtttgttGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTATATCAATTGCAACATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTc > 1:58518/1‑129 (MQ=255) ttgATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCCCTATTCTTTGGTGTTGTCGGAGAAGCGTCTGCtt > 2:159286/1‑129 (MQ=255) atttACACTAGATTTTTGATTAGCTTGCGGTTTATCATTTTCATCTTCAGTTGCTGATGTTACTTTTGTTTCACCTGTTGCCGCATCACTATTATTTGTTGTTGTCGGAGAAGCGTCTGCTTTGCCAtt < 2:124854/126‑1 (MQ=255) aTCTACACTAGATTTGTTTTTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCAtt < 2:32326/129‑1 (MQ=255) gaGAATGGTTAGTAGCGTGCGGTTTATCGTTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCTATTAGCTgtcg < 2:98206/128‑1 (MQ=255) gTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACTTGTTGCCGCATCAGTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGa < 1:197356/129‑1 (MQ=255) tttttaGCTTTCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGTTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGAt < 2:40325/126‑1 (MQ=255) attaGCTTGCGGTTTATTCTTTGCATCATCCGTTGCTGATGTTACTGTTGTTTCATCTGTTGCCGTTTCTTTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATAc < 1:225139/129‑1 (MQ=255) gCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTa > 2:213533/1‑129 (MQ=255) gCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTa > 2:163422/1‑129 (MQ=255) cGGTTTATGCTTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGCTGTTGTCGGAGAAGCGTCTGTTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTg < 2:198275/129‑1 (MQ=255) cGGTTTATCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTTTTTTGTTTTGTCGGTGAAGCGTCTGCTTGGCGATTAGCTGTCGTCTCAGATACGTTAGGTTg < 1:71015/129‑1 (MQ=255) gttgtattatATGCAGCATCCGGTGCTGATGTGATTGTTGTTTCACCTCTTTCCGCAGCACTATTATTTGTTGTTTTCGGAGAAGCGTCTGCTTTGTCATTAGCTGTCGTCTCAGATTCGTTAGGTTGt < 2:195521/125‑1 (MQ=255) tCATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTa < 2:20022/129‑1 (MQ=255) cATTTGCATCATCAGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTCCCATTAGCCGTCGTCTCCTCAACGTTAGGTTGTCCAGttt > 2:42397/1‑127 (MQ=255) caGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTAGTATTGTCGGAGAAACGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTg > 1:23786/1‑129 (MQ=255) aGTTGCTGATGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTAAGGGTGTCCAGTATTTTCTGGTGTTGc > 2:125296/1‑129 (MQ=255) aTGTTACTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCAt < 2:231973/129‑1 (MQ=255) | TAGTTGATTCTACTTCTGGTTTACTAGTTACATCGTTATCCATTGTCGGACTGTTTGTTGATGCATCTACACTAGAATTGTTATTAGCTTGCGGTTTATCATTTGCATCATCAGTTGCTGATGTTGCTGTTGTTTCACCTGTTGCCGCATCACTATTATTTGGTGTTGTCGGAGAAGCGTCTGCTTTGCCATTAGCTGTCGTCTCAGATACGTTAGGTTGTCCAGTATTTTCTGGTGTTGCATTAGCAT > USA300TCH1516_ALE/2279580‑2279828 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |