Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,774,576 | G→A | 100% | G263E (GGG→GAG) | ydiB → | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,774,576 | 0 | G | A | 100.0% | 83.2 / ‑6.7 | 30 | G263E (GGG→GAG) | ydiB | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
Reads supporting (aligned to +/- strand): ref base G (1/0); new base A (14/15); total (15/15) | |||||||||||
Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
Rejected as polymorphism: Variant not supported by required number of reads on each strand. |
ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG > NC_000913_3_hsa_tpiA/1774433‑1774719 | aTTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTGGTGGCAAGAGGCTg > 1:366848/1‑149 (MQ=255) gTTAATGATATCAGTCTGTGACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACa < 2:392230/149‑1 (MQ=255) aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGGTATTGCTGCAGGCGCAACAAGCTGGTTGCACAACGATTGAAGGATACGGCCTGTTGTTGTGGCAAAAGGCTGAACAGtt > 2:506170/1‑149 (MQ=255) aGTCTGTTACATCCGGGACTTCTGGCCACTGAATGCGTGTATACCCCGCATAGGCCGAAGTTATTGCAGCAGGCGCAACGAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg < 1:594671/149‑1 (MQ=255) atcctcgACTTCTGGTCACTGAAGGCGGTTATAACTCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACGGGCaaa < 2:299000/143‑1 (MQ=255) aTCCGGGATTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCaaa < 1:253050/149‑1 (MQ=255) gACTTCGCGTCACTGGACGCCTGCAAACCCCGCATATGCCGATCTTACTGCAGCACGCGCAACAAGCGGGTTGCAAAACGATTGATGGATAAGGCATGTGGTTGTGGCACGACGCTGAACATTTCACATTATGGACGGGCAAAGATTTc < 2:380187/149‑1 (MQ=255) cTGGTCAGTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATGATGGACTGGCAAAGATTTCCctct < 1:532033/149‑1 (MQ=255) tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa > 1:341122/1‑149 (MQ=255) tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGATGAAAAGTTCACCTTTTGGGCTGGCAAAGACTTCCCTCTgcac > 2:117895/1‑146 (MQ=255) gtggATAACCCGCATATGACGAAGTGATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGGTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACa < 2:486292/149‑1 (MQ=255) tgtATAACCTGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg < 1:480135/149‑1 (MQ=255) taACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCa > 1:440595/1‑149 (MQ=255) aCCCGCATATGACTAAGTCAGTGCAGCATGCGCAACAAGCTGGTTGCAAAACGATTGGGGTAAACACCATGTTGTTGTGGCAAGAGGCTTAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg < 1:295336/149‑1 (MQ=255) aCCCGCACATGACGAAGGTATTGCAGCAGGCGCAACAAGCTGGGTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg < 1:540368/149‑1 (MQ=255) cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTAATgg > 1:338441/1‑149 (MQ=255) cGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgggg > 1:306341/1‑149 (MQ=255) gCATATGACGAAGTTATTGCAGCAGGAGCCACAACAAGATTTCAAAACGATTGTTGGATACGGCATGTTGTTTTTGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGCGt > 2:440836/1‑149 (MQ=255) aGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCACGAGGCTGAACAGATCACATTATGGACTGGCAAAGATTTACCTATGGAAGATGATAAATCGGTCATGAGTTTCTGTGCCTgc > 2:9694/1‑148 (MQ=255) gTTATTGCGGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAc < 1:281378/149‑1 (MQ=255) caacaaGCTGCTTGCAAAACGATAGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCa < 1:387482/149‑1 (MQ=255) aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGTAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt < 2:408020/149‑1 (MQ=255) gagtGATGGATACGGCCTGTTGTTGTGGCAAGGGGCTGAACAGGCCACATAATAGGATGGCCAAGAGTTCCCTCTGGAATAGGTTAAACAGCTCATGGGGTGAGGTGCGTGACAGGCTGACCGCGTACAGAAAGGGAAACAAATGaaga > 2:161587/4‑147 (MQ=255) aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAAc > 1:407814/1‑149 (MQ=255) aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTAATGGGATTCGGTGCCTGAAAGGCTTACCGCGTGAAGAAAGAGTAAAAAATGAAAAc > 1:232180/1‑149 (MQ=255) gATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACCGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGGAAAAAATGAAAACCGt > 2:80562/1‑149 (MQ=255) gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACt > 1:578206/1‑149 (MQ=255) tACGGCACGTTGTTTTGGTAAGAGTCTGAACAGTTAACATTATGGCAGAGTAAATAGTTCCCTCTGGAATATGTTAAACAGGTCATTGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGt < 1:82464/149‑1 (MQ=255) ggctgttgttgcGGCAACATGCTGAACCGTTCACCTTATGGACTGGCAAAGCTTTCCCTCTGGAATATGTTAAAGAGGTCATGGGGTTCGGTGCCTGACAGGATGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa < 1:129841/146‑1 (MQ=255) gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGGAACTGTAAAAGATCTCGTCATTg > 1:257279/1‑149 (MQ=255) | ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG > NC_000913_3_hsa_tpiA/1774433‑1774719 |
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 < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |