Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
JC | NC_000913_3_hsa_tpiA | 1,726,433 | Δ11 bp | 38.3% | coding (411‑421/600 nt) | nemR → | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
New junction evidence | |||||||||||
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seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
* | ? | NC_000913_3_hsa_tpiA | = 1726432 | 14 (0.430) | 9 (0.280) | 9/276 | NT | 38.3% | coding (410/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
? | NC_000913_3_hsa_tpiA | 1726444 = | 15 (0.460) | coding (422/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
ACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCT‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/1726299‑1726432 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑TGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTG > NC_000913_3_hsa_tpiA/1726444‑1726571 ACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATTGCCGTG > 1:59653/1‑149 AACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACC > 1:381689/1‑149 CAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTAAATCT > 1:139990/1‑149 CATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGAATAAAGGTGCTAGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAA > 1:548096/1‑149 GTTGCCTGACAGTAAAACTCTCTGACGAAGTGTGCGATCTGTCAGAAGATATGCGCAGAGCGATAGATAGAGGGGATCGCGGCGTGATCGACCTGCTTGAAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCAAACCGATGaa > 2:498472/1‑147 CCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAG > 1:23368/1‑149 GCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGC < 2:102572/149‑1 TAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAAGTTCGCGCAGTTTC > 2:375846/1‑149 TCGCGGCGTGATCGCCCTGCTTGTAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGGGGCTTGGCGCTAGTCTGCCGGCCAAAGTTTCGCGCCGTGTCGAGCCgcac > 2:243375/1‑145 ACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCT‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/1726299‑1726432 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑TGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTG > NC_000913_3_hsa_tpiA/1726444‑1726571 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
Reads not counted as support for junction |
read_name Not counted due to insufficient overlap past the breakpoint. |
read_name Not counted due to not crossing MOB target site duplication. |