| 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 | 88.9% | 46.1 / 0.2 | 28 | 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 (14/10); total (15/13) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.69e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.26e-01 | |||||||||||
AAGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGGCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGAA > NC_000913/3152248‑3152721 | aaGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGgtcggc < 1:81976/251‑1 (MQ=255) aCTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGc > 2:287812/1‑251 (MQ=255) agggcgtagcaAAAAATACCCTCTCGGTGCGGTAAATAGCGTGATTAAGCGCGCTTCTTCGCTTGTCTGTGTCAGTGTAGAAGCCAAAAAACACGCTAAACGTAATCGCGCCAATGGATAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTGCCCTGCGGGTCGGCAGCTGTTGCTAATTCCATTCTTGCtt < 2:137936/244‑1 (MQ=255) cGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGACCGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCCGCGGTTGCTAATTCCATTCTTGCTTTTAt > 2:202262/1‑251 (MQ=255) caAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTCGAAGCCAAATAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCCTTTATCCTTAACACAAGCGA‑TGTGTGAAGTGGAAGGCGGCGCAGGCTGCGGGCTATTCACATGGGGGTCTGCAGCGGTTGCGAATTCCATTCTTGATTTTATCGat > 2:339773/1‑249 (MQ=255) caAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAAc < 1:177120/251‑1 (MQ=255) gggTAAATAGCGTGATTAAGCGCGCTTTGTCGCTGGTCTTTGACAGTGGAGAAGACAAAAAACACGCGACACGTAATCGCGACAATGGAGAGGTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTtga‑tg < 2:313487/250‑1 (MQ=255) aaaTAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGAcc > 1:150502/1‑250 (MQ=255) aGCGTGATTCAGCGCGCTTCTTCGCAGGTCTTTGACAGTTTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGGCGGCAGCGGTTGCTAATTCCATTCCTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAacac < 2:32250/251‑1 (MQ=255) cGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCg < 1:255390/251‑1 (MQ=255) gATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGcc < 2:297867/250‑1 (MQ=255) cgtgTCTTTGACAGTGAAGAAGCAAAAAAACACGCGAAACAAAACCGCGCAAGGGGAGAGTTGTTTTAGGGGCGGCGCGGACCGTTACCCCTTTTCCCCTTCCACCAA‑CGAGTGTGGGAACGGGAAGGTGGCGCAGGCTGTGTGCTATTCCCCTGGGGGTCGGCGGGGTTTGTTATTTCCTTTCTTTCTTTTATCAAACGGGTGGATCATGTGT‑GAGTACCCAACACCGCCTATGAACCGAGTCAGGAt < 2:139661/246‑1 (MQ=255) cTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGATGCGTGCTATTTCCATGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGACAAGGGCGATCATGTGTTGC‑TGACCAACACCGCCTATGACCCGAGTCAGGAttt > 2:354251/1‑251 (MQ=255) cTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTACCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGt > 1:57915/1‑250 (MQ=255) aaaaaaCACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTAAGCaacct > 2:6401/1‑248 (MQ=255) cgcgACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTa > 1:321353/1‑250 (MQ=255) cacGTAATCGCGCCACTGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGAc > 2:22849/1‑250 (MQ=255) gcCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGGCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGT‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGCCATCATGGTTTg > 2:176291/1‑250 (MQ=255) ccAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAGGGTGGCGCAGGCGGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACGGGGCGATCATGTGTTGT‑TGACCAACACCGCCAATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCACCAAACTGGGCGTACCGACATCTTGGTTTGAt > 1:91627/1‑251 (MQ=255) ttCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGGGTTGA‑TGACCAACACCGCCTCTGAACCGAGTCAGGATTTCTGTTGCAAAATCCTCAGCACACTGGGCGTAACGAGATCATGGTTTGATCCGCTGATTGGTGc > 2:260767/1‑251 (MQ=255) cgtaaccccATTCCTCCTTACACCAAGGGA‑TGTGAGAACTGGAAGGGGGCGCAGGCTGCGTGTTTTTCCCCGGCGGGGCGGCGGGGTTTGCTAATTCCATTCTGGCTTTTATCAAACAGGGGGATCTTGTTTTGA‑TGCCCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTg < 1:166003/245‑1 (MQ=255) gTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGAc > 2:63139/1‑204 (MQ=255) gTTAACCCATTCCTCCTTACAACAAGCGG‑TGGGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCGGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGTTTTTATCAAACGGGGCAATCATGTGTTGA‑TGACCACCACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGAc < 1:63139/204‑1 (MQ=255) aacaacaAGCGA‑TGTGTGACGTGGAGGGTGGCGCGGGCTGCGTGCTATTTCCCGGGGGGTCGGACGCGGTTGATAATTCCTTTCTTTCTTTTATCGAACAGGGCGATCTTTTGTTGA‑TGCCAAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATc < 1:8702/250‑1 (MQ=255) aacaaGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCggg > 2:143566/1‑249 (MQ=255) gggttgtgtgAACTGGAGGGTGGCGCAGGCTGCGTGCTTTTTCCCTGCGGGCCGGCAGCGTTTGCTAATTCCATTCTTGTTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCt < 1:143566/247‑1 (MQ=255) ggtgAACGGGAAGGGGGCGCGGGCTGCTTGCTATTCCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGTTTTTACCGAACAGGGCGATAATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATc < 1:22849/250‑1 (MQ=255) aGGCTGCGTGCTATTTCCCTGCGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATgg > 1:327283/1‑251 (MQ=255) gtgtcgtgttttttCCCGGGGGGTCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAAAAGGGCGTTCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGaa < 1:135667/240‑1 (MQ=255) | AAGCTTGATACTCAACTGGTGAATGCAGGACGCAGCAAAAAATACACTCTCGGCGCGGTAAATAGCGTGATTCAGCGCGCTTCTTCGCTGGTCTTTGACAGTGTAGAAGCCAAAAAACACGCGACACGTAATCGCGCCAATGGAGAGTTGTTCTATGGACGGCGCGGAACGTTAACCCATTTCTCCTTACAACAAGCGA‑TGTGTGAACTGGAAGGTGGCGCAGGCTGCGTGCTATTTCCCTGCGGGGCGGCAGCGGTTGCTAATTCCATTCTTGCTTTTATCGAACAGGGCGATCATGTGTTGA‑TGACCAACACCGCCTATGAACCGAGTCAGGATTTCTGTAGCAAAATCCTCAGCAAACTGGGCGTAACGACATCATGGTTTGATCCGCTGATTGGTGCCGATATCGTTAAGCATCTGCAGCCAAACACTAAAATCGTGTTTCTGGAATCGCCAGGCTCCATCACCATGGAA > NC_000913/3152248‑3152721 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 29 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |