| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 3,152,494 | G→T | A87S (GCG→TCG) | metC → | cystathionine beta‑lyase/L‑cysteine desulfhydrase/alanine racemase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 3,152,494 | 0 | G | T | 97.1% | 105.0 / NA | 35 | A87S (GCG→TCG) | metC | cystathionine beta‑lyase/L‑cysteine desulfhydrase/alanine racemase |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base T (24/10); minor base A (1/0); total (25/10) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01 | |||||||||||
TGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGGCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGAAGTCCACGACG > NC_000913/3152253‑3152731 | tGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCCGCGTGCTATTTCCCTGCGGGTCGGCAGCg < 1:354934/250‑1 (MQ=255) gATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGt < 2:179637/251‑1 (MQ=255) aCTGGTGAGTGCAGGGCGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGCGTAGAAGCCAAAAAACACGCGACACGTAATCACGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATATGTGAACTGGAAGGTGGCGCAGGCTGCGTGATATTTCCCTGCGGGTCGGCAGCGGTTGCTAAtt > 2:245391/1‑251 (MQ=255) gCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGc > 1:156061/1‑251 (MQ=255) gcagcaAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATc > 1:469704/1‑251 (MQ=255) acacTCTCGGCGCGGTAAATAGCGTGATTCCGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGAt > 2:355640/1‑251 (MQ=255) gggaaaTAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACCGTGTATAAGCCAAAAAACGCGCGACACGTAATCGCGCCAATGGAGAGTTGGTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTggatga < 2:501959/248‑1 (MQ=255) cGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGAGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCg > 1:449934/1‑251 (MQ=255) ccttcttCGCTGGTCTTTGAAAGTGTAGAAGCAAAAAAACACGCGACACGTAACCGCGCAAATGGAGATTTGTTCAAGGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGTTTGCTAATTCCATTCTTGCTTTTATCAAACGGGGCGATCATGTTTTAATGACCAACACCGCCTATGAACCGAg < 2:156061/250‑1 (MQ=255) cttcttCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGt > 2:486764/1‑251 (MQ=255) ttcttcGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGCACCGAGTc > 1:347638/1‑251 (MQ=255) ttcttcGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGACCCGAGTc > 2:186121/1‑251 (MQ=255) aaaaaaCCCGCGACACGTAATCGCGCCAATGGAGAGTTGTACTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGCGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCaaaat > 2:30965/1‑249 (MQ=255) accgcgCCAATGGAGTGTTGTTCTATGGGCGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTAAACTGGAAGGTGGCGCAGGCTGCGGGCTATTTCCCTGCGGGTCGGCAGCGTTTGCTAATTCCATTCTGGCTTTTATCGAACAGGGCTATCATGTGTGGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATgg < 1:171487/249‑1 (MQ=255) cgcgCCAATGCAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACCACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTACCGACATCATGGtt > 2:201071/1‑251 (MQ=255) agatttgttCTATGGCCGCCGCGAAACGTTACCCCATTTCCCCTTACAACAAGGGATGTGTGACCGGGAAGGGGTCGCAGTCTGCGTGTTATTCCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTGGCTTTTATCGAACAGGGCATTCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGa < 2:469704/247‑1 (MQ=255) gagTTGTTCTATGGAGGGCGCGGAACTTTAACCCATTTCTCCTTACAACAATCGATGTGTGACCTGGAGGGTGGCTCAGGCTTCGTGCTTTGTCCCTGCGGTTGGGCAGCGGTTGCTAATTCCATTCTTTCTTTTCTCGAATAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGAt < 1:491349/251‑1 (MQ=255) gttCTGTGGACGGCGCGGAACGTTAACCCATTTCTACTTACAAAAAGCGATGGGTGCACTGGAAGGTGGCGCAAGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATAGGTTGATGACCAACACCGCCTATGACCCGAGTAAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGAACTCATGGTTTGATCCGCTGCTTgttg > 2:299286/1‑248 (MQ=255) gttCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTg > 2:151185/1‑251 (MQ=255) tGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGat > 1:133581/1‑250 (MQ=255) ggAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGc > 2:280168/1‑250 (MQ=255) ccGTTAACCCATTCCCCCTTCCAACATGCGAGGTGTGAACGGGAAGGTGGCGCAGGCTGCTTGTTATTCCCCTGCGGGTGGGCAGCGGTTGCTAATTCCATTTTTGCTTTTATCGAACGGGGCGATAAGGTGGTGATGCCCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCt < 2:126628/250‑1 (MQ=255) ttAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTACGCATCTGc > 1:326914/1‑250 (MQ=255) acaaaaagagttgggtgatcgggagggTGGCGCAGGCTGCGTGCTATTCCCCTGCGGGTCGGCAGCGGTTGCTAATTCCTTTCTTGCTTTTATCGAACAGGGCGAATATGTTTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCg < 2:371359/226‑1 (MQ=255) gaacaagtgatgggagtaCTGGCAGGTGGCGCAAGCGGCGTACTATTTCCATGCGGGACGGCAGAGGATGCTAATTACATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTATGTAGCCAAAACCTCCGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGGTTGGAGCCGATATCATTAAGCATGCGCAGCCCAACAATAAAAttgt > 2:291422/18‑248 (MQ=255) caaGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGtt > 1:392500/1‑251 (MQ=255) caaGCGATGTGTGAACTGGAAGGTGGCGCAGGCTACGTGCTCTTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGTACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCCAACTGGGCGTAACGACATCTTGGTTTGATCTGCTGATTGGTGCCGATATCGTTCAGCATCTGCAGCCAAACACTAAAATCGTGtt > 2:73232/1‑251 (MQ=255) gCGATGTGTGAACTGGAAGGTGACGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCt > 1:80543/1‑251 (MQ=255) tGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCCGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGc > 2:152754/1‑251 (MQ=255) ggAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCt > 1:211570/1‑251 (MQ=255) tGGCGCAGGCTGCGCGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGCTTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAACATCGTGTTTCTGGACTCGCCAGGCTCCATcc > 1:395777/1‑250 (MQ=255) ggCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGTTCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCAc > 2:474644/1‑251 (MQ=255) gttcTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGAAGTcc > 2:382901/4‑250 (MQ=255) gcttttccccTGCGGGTCGGCGGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACGGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCAGCACCATGGAAGTCCac < 1:356785/243‑1 (MQ=255) aTTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGAAGTCCacgacg > 2:448435/1‑251 (MQ=255) | TGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGGCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGAAGTCCACGACG > NC_000913/3152253‑3152731 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |