Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,679,525 | G→T | 100% | A1074D (GCT→GAT) | yphG ← | DUF4380 domain‑containing TPR repeat protein |
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 | 2,679,525 | 0 | G | T | 100.0% | 112.0 / ‑6.7 | 40 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
Reads supporting (aligned to +/- strand): ref base G (0/1); new base T (23/16); total (23/17) | |||||||||||
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. |
GTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTG > NC_000913_3_hsa_tpiA/2679383‑2679670 | gTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAATTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAAGCATCACGGTCGTAAATAATCCCGCTTTCGTCCAATCCGCAt > 2:573171/1‑149 (MQ=255) tttttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACCGTTAATAGGGGTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGAtt > 1:251355/1‑149 (MQ=255) ttattaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGTCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAAt > 2:693746/1‑149 (MQ=255) ttaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCATTCGGCCCATCCGGATTAATCGc > 1:605755/1‑149 (MQ=255) taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc < 1:278573/149‑1 (MQ=255) acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt > 2:177869/1‑149 (MQ=255) acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt < 1:212712/149‑1 (MQ=255) acGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa < 1:29623/149‑1 (MQ=255) tgatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGACCAGACGCatat > 1:326622/1‑149 (MQ=255) tgatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAAAGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCatat > 1:690634/1‑149 (MQ=255) tGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAg > 2:400123/1‑149 (MQ=255) ttatTACAGTTTATAGGGTTTAGTGAACGGGGTAAAAAATAAAAGGCATCATGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGAc < 2:375807/148‑1 (MQ=255) atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGACTAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCCATTCAGCGCGAGCAGACTCCTATTGCGCAACCTCCCCGAGCCCCGCggcaga > 2:86332/1‑145 (MQ=255) tACAGTTAATAGGGTTTAGTGAACTGGGGTACGCATACTTTGCGGCACGGTTGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGAAAGCTCCGCGAGTCCCGCGGACGCCa < 2:150153/149‑1 (MQ=255) aCAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGCTTAATCGCCGTCAATTCAGCGCGCGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAg > 1:638356/1‑149 (MQ=255) gTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGTTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGCCGCCAGCAt > 1:21773/1‑149 (MQ=255) aGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccac < 1:19713/149‑1 (MQ=255) ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt > 1:179433/1‑149 (MQ=255) gTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCAGCTATCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATGTGTCGCAACCTCCCTGGACACCGCGTCAGCCACCCTCACCACCCTCAGGCATTTTTCta > 2:79187/1‑148 (MQ=255) ttAAAAATAAAAGGCATCACGTTGGTGAATAATGCCGCTTTCGGCCAATCCTGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCttt < 2:707766/149‑1 (MQ=255) aaaaaaGAAAGGGCGGCACGGGGGTGAATAATGCCGCGTGGGGTCAATCCGGATTAATCGCCGTCAATGCAGCGCGAGCAGACGTATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCTCCATCAGGCGTTTTTccgtt < 2:350318/148‑5 (MQ=255) aaaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt < 1:542915/149‑1 (MQ=255) aaaaTAAAAGGCATCACGGTGGTGCATAATGCCGCTTCCGGCCAATCCGGATCAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCACCCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTCCTTTAtg < 1:671960/149‑1 (MQ=255) aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATTGCCGCCATCAGGCATTTTTCTTTAtgc > 2:350828/1‑149 (MQ=255) aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTTTTTAtgc > 1:131499/1‑149 (MQ=255) aaaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGctgctg > 2:602496/1‑149 (MQ=255) aaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgt > 1:240206/1‑149 (MQ=255) aCGGTGGTGAATAATGCCGCTTTCGGCCAATCAGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCTACCTCCCCGAGTCCCGAGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc > 2:817/1‑149 (MQ=255) cGGTGGTGAATAATGCCGCTTTCGGCCAATCAACATTAAACTGCTTTAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCg < 1:133885/149‑1 (MQ=255) gtgAATAATGCCTCTTTCGGCCAATCCGGATTAAGCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTTTGTTGCTGTTGTAAATCGCCATa < 2:67988/149‑1 (MQ=255) gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCCCCATCAGGCATTTTTCTTTATGCTGCTGTTTTAAATCGCCATACa > 2:593498/1‑149 (MQ=255) atGACGCTTTCGTCCCAGCCTTATTAATCGCCGGCAATTCGGCTCGAGCAGACTCATATTGCGCTACCTTCCCGAGTCTCTCGGACGCCAGCGTCGCCACCATCAGGCATTTTTCTTTCTGCTCCTGTTGTAAATCGCCATACAGCGac < 2:228529/149‑1 (MQ=255) aggCCTCTTTCGGCCAATCCGTATTAATCGCCGTCAATTCAGCGCGCGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGac < 2:217688/147‑1 (MQ=255) tGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAACTCGCCATACAGCGaca > 1:153676/1‑149 (MQ=255) ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCCCACATGTGCTGGGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaac < 1:684561/149‑1 (MQ=255) cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCGATCCAGCGacacca > 1:191933/1‑149 (MQ=255) gCTTTCGGCCAATCCGGATTGATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCCTACAGCGAcaacaa < 1:350652/149‑1 (MQ=255) tccgCCAATCCGGATTATTCTCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATCTTGCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCa < 1:141824/146‑1 (MQ=255) gCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGt > 1:579029/1‑149 (MQ=255) cAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAGGTCAGGTTg > 1:487805/1‑149 (MQ=255) | GTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTG > NC_000913_3_hsa_tpiA/2679383‑2679670 |
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: ‑ |