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 | 19.5% | 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 | 33 (0.580) | 8 (0.140) | 8/278 | NT | 19.5% | coding (410/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
? | NC_000913_3_hsa_tpiA | 1726444 = | 33 (0.580) | coding (422/600 nt) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
TACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCT‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/1726290‑1726432 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑TGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGC > NC_000913_3_hsa_tpiA/1726444‑1726566 TACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGAGATCGCCCTGCTTGGAAAA > 2:582732/1‑150 TGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAAC < 2:188426/150‑1 tGTTTTACCATCATGGCACCATCAGTGGTTGCCTGACAGTCAACCTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTAGCGGCGTGCTCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGT < 4:81744/149‑1 AACATGGAAGCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTT > 1:397023/1‑150 AACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCG < 2:348115/150‑1 CAGGAAAACTCTCTGCCGAAGGGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAGAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAGCCTTTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAA < 1:379765/150‑1 CCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTG < 4:142749/150‑1 AGGTGCTCGCGGCGTGATCGCCCTGCTTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGC > 4:173878/1‑150 TACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCT‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/1726290‑1726432 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑TGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGC > NC_000913_3_hsa_tpiA/1726444‑1726566 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ 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. |