| 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 | 90.6% | 76.1 / ‑1.1 | 33 | A87S (GCG→TCG) | metC | cystathionine beta‑lyase/L‑cysteine desulfhydrase/alanine racemase |
| Reads supporting (aligned to +/- strand): ref base G (1/2); new base T (19/10); total (21/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.40e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.72e-01 | |||||||||||
AAAGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGG‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCAC > NC_000913/3152247‑3152714 | aaaGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCTTGCTATTTCCCTGCGGgt‑cgg > 1:187486/1‑251 (MQ=255) aaGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGgt‑cggc > 2:108931/1‑251 (MQ=255) aCTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAAtt > 2:137083/1‑251 (MQ=255) tGGTGAATGCAGGACGCCGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGCTGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGACGCGGTTGCTAATTcc > 2:158759/1‑251 (MQ=255) gAATGCAGGACGCAGCAATAAATACACTCTCGGCGCGGTAAATAGTGTGAGTCAGCGCGCTTCGTCGCTGGTCTTTGACATTGTAGAAGCCAAAAACCACGCGATACGTAATCGCGCCTATGGAGAGTTGTTCGATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCGGGCTGCGTTCTATTTCCCTGCGGGT‑CGTCAGCGGTTGCTAATTCCAtt < 1:306994/250‑1 (MQ=255) aaTGCAGGACGCAGCGAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGCAATCGCGCCAATGGAGAGCTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACATGCGATGTGTGAACTGGAAGGTGACACAGGCTGCGGGCGATTTCCCTGCGGTC‑CGGACGCGGTTGCTAATTCCATTCt > 2:187289/1‑251 (MQ=255) aaTGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTCTTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCTTTCt > 2:330261/1‑251 (MQ=255) aTGCAGGACGCAGCCAAAAATCCACCCTCGGCGCGGTAAATAGCGTGATTCAGCGCTCTTCTTCTCTGGTCTTTGACAGTGTAGTAGCCACATAACACGCGACATGTAATCTCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCtt < 2:321143/251‑1 (MQ=255) gaacgtcgcaAAAAATACACTTCCGGCGCGTTTAATAGCGAGAGTCAGCGCGCTTCTTCGCTGGTCGTTGACAGTTTAGAAGCCAATAATCACACTACACGTACACGTGCCAAAGGAGAGTTTTTCTACGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAATTTGGCGCTGTCTGCGTGCTACTTCCCTGCGGGT‑CGGCAGCGTTTGCTAATTCCATTCTTGCttt < 2:312696/244‑1 (MQ=255) cGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTAt < 2:239040/251‑1 (MQ=255) gcagcaAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATc < 2:214288/251‑1 (MQ=255) aaTACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGc > 1:222846/1‑251 (MQ=255) ccgagctAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGGCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGtt < 2:174599/244‑1 (MQ=255) aaaTAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTTTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCACCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGTGTGCTATTTCCCTGCGGGG‑CGGGAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATTTCGTGTTGATGAcc < 2:163386/250‑1 (MQ=255) aaaTAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGtt > 1:174599/1‑243 (MQ=255) aaTAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCa > 1:137591/1‑250 (MQ=255) cAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATg > 1:190659/1‑250 (MQ=255) cAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGGGTTGATGACCAACACCGCCTATg > 2:267551/1‑250 (MQ=255) agcTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCACCACCGCCTATGAACCg > 2:217217/2‑250 (MQ=255) tcGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑GGGCAGAGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATAATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAgg > 1:285256/1‑250 (MQ=255) cTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGAttt > 1:24148/1‑251 (MQ=255) tttGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGt > 2:84410/1‑249 (MQ=255) gCCAAAAAACACGAGACACGTAATCGCGCCAATGGAGCGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACACCAAGCGATGTGTGAACTGGGAGGTGGAGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACCCCGCCTATGAACCGCATCAGGAGTTCTGTAGCAAAATCCTAAGCa > 2:314066/1‑250 (MQ=255) caaaaaaaCACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCCTGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCCGCaa > 2:209363/3‑250 (MQ=255) aaaaCACGCGACACGTAAGCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTACCCCATTTCTCCTTACAACAAGCGATGTGGGAACGGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGGGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGGGATCATGTGTTGAGGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTgg < 1:267551/251‑1 (MQ=255) cgcgACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCTTTTCTCCTTACAACAGGGGAGGTGTGAACGGGAAGGGGGCGCGGGTGGCGTG‑TTTTTCCCCGGGGGGTCGGCAGCGTTTGCTAATTCCATTCTTGCTTTTACCGAACGGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTaa < 1:84410/251‑1 (MQ=255) gcgcCAATGGAGAGTTGTTCTATGGACGGCGCGAAATGTTACCCCTTTTCTCCTCACAACAAGCGATGTGTGAACTGGAGGGGGGCGCAGGCGCCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGTTTTTATCGAACAGGGCGATCATGTGTTGATGCCCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGttt < 1:268797/251‑1 (MQ=255) cgcCATTGGAGAGTTGTTCTATGGACGGCGGGGACCGTTAACCTATTCCTCCTTACAACAAGCGATGGGGGAATGGGAGGGGGGCGCAGGTTGCGTGCTATTCCCCGGCGGGT‑GGGCGGCGGTTGCTAATTCCATTTTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTg < 1:108931/251‑1 (MQ=255) cgcCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGt > 1:5869/1‑196 (MQ=255) ccAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGAt > 1:61285/1‑251 (MQ=255) tATGGACGACGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCCGCGGTTGCTACTTCCCTTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGCACCGAGTCAGGTTTTCTGTAGCAAAATACTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCgg > 1:214835/1‑250 (MQ=255) taccccATTTCCCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTTCTATTTCCCGGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCAAACAGGGCGATCATGTTTTGATGCCCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCa < 1:137083/247‑1 (MQ=255) tttCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGATGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGCGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCTAGGTTTGATCCGCTGATTGGTGCCGCTATCGTTAAGCATCTGCAGCCAAac > 1:21346/1‑250 (MQ=255) tgtgtgAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGAGGGG‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGATAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGa > 2:61974/1‑250 (MQ=255) ggCGCAGGCTGCGTGCTATTTCCCTGCGGGT‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCAc > 1:299954/1‑251 (MQ=255) | AAAGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGATGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGG‑CGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGATGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCAC > NC_000913/3152247‑3152714 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 30 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |