| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,815,810 | Δ1 bp | intergenic (‑42/+24) | pyrE ← / ← rph | orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,815,809 | 0 | G | . | 97.9% | 203.7 / ‑0.7 | 48 | intergenic (‑41/+25) | pyrE/rph | orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Reads supporting (aligned to +/- strand): ref base G (1/0); major base . (26/20); minor base A (0/1); total (27/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.47e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.12e-01 | |||||||||||
TGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTT > NC_000913_3_hsa_tpiA/3815663‑3815954 | tGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAAGTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTATACAGAAAAAAAAAAgcga < 2:148102/150‑4 (MQ=255) aGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCTCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACtcacccgt > 2:404626/1‑145 (MQ=255) ggggCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGGGGACATTCAATACACTGGCCCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAGGCGACTCATCCGTc > 1:871548/1‑150 (MQ=255) gggCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGtgc > 1:303521/1‑148 (MQ=255) gCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGcc > 2:57170/1‑150 (MQ=255) ccGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCATTCGCCTTCAAAATcc > 2:333547/1‑149 (MQ=255) gCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCCACGCATCCGTTCCCTTAAAAATCAGTTTccctgg > 1:586318/1‑147 (MQ=255) cGCCCAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGACGCTGATACGGTTCCATGCCTTCGCTCCAGGTCTGACTTTGCTACAGACAAAAAAAA‑GCGACGCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTc > 1:533658/1‑150 (MQ=255) ccAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTg < 2:49261/150‑1 (MQ=255) ccAAACTTTAACACCTGCTTGCCAAGCGCCAATTCCATAACCTGGCGCTTATATGGTTTCATGCCTTCGCACCTCATCTTCCTTTTCGACGGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTg < 1:277136/150‑1 (MQ=255) acCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAAt > 1:340361/1‑150 (MQ=255) gctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcga < 2:340361/150‑1 (MQ=255) tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgatt > 1:353240/1‑150 (MQ=255) aaaTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCg > 2:1118383/1‑150 (MQ=255) aTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCggg < 1:1118383/150‑1 (MQ=255) ttCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCAACTCGGGc > 1:805795/1‑150 (MQ=255) aaTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCgccgcc < 2:866800/110‑1 (MQ=255) aaTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCgccgcc > 1:866800/1‑110 (MQ=255) aTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCCTCACTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCaga > 2:1016655/1‑150 (MQ=255) aaaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGc < 1:57170/150‑1 (MQ=255) tGGCGCTTATATGGTTTCATGCCTTCCCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaac < 1:886220/150‑1 (MQ=255) tGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaac > 2:712441/1‑150 (MQ=255) gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa > 1:629606/1‑150 (MQ=255) gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa > 2:499954/1‑150 (MQ=255) gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa < 1:896490/150‑1 (MQ=255) cTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGGGCCAACAAGAt > 1:753803/1‑150 (MQ=255) atatGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgatt > 2:186212/1‑122 (MQ=255) atatGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgatt < 1:186212/122‑1 (MQ=255) tGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCCGAGCCAACAAGATGAGTAg > 1:509088/1‑150 (MQ=255) tttCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGctc > 1:1161546/1‑150 (MQ=255) aTGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCa > 1:547100/1‑150 (MQ=255) tGCCTTCGGTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCAt < 1:404626/150‑1 (MQ=255) ccTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg < 1:943423/150‑1 (MQ=255) ccTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg < 1:392720/150‑1 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCCTggg > 2:456552/1‑150 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATggg < 2:629606/150‑1 (MQ=255) ttCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGt > 2:48386/1‑150 (MQ=255) ccgcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACgg < 2:389513/147‑1 (MQ=255) ctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTAACTACAATGCTCTAAGTTTTCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACggt > 1:1109284/1‑149 (MQ=255) cATCTTACCTTTCCACAGACAAAAAAAA‑GCGACTCATCAGTCCCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAAGGGATTCGATTCGCCTCGGGCCAGAGCCAACAAGATCAGTAGCTCTTCATGGGTGAACGGCTc < 1:971507/150‑1 (MQ=255) tCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATCAGTAGCTCTTCATGGGTGAACGGCTccc > 2:796869/1‑148 (MQ=255) ttACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCACATTAAAAATCAGTTTGCCAGCGCAGCCTTCTGCGTCACAACAACAAATGCTTTTCACCTCGGGCCAGAGCCAACAAGATGAGTAGCCCTTCATGGGTCAACGGTACGCCt > 1:1160508/1‑150 (MQ=255) cTTTTCTAGACACAAAAAAAA‑GCGACTCATCAGGCGCCTTACAAATCAGTTTGCCAGCGCCGCCTGCTGCGTCGCTACAATGGATTCGATGCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCt < 2:65544/150‑1 (MQ=255) cTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCt < 1:456552/150‑1 (MQ=255) cTTTTCAACAAACAAAAAAAA‑GCGACTCATCAGGCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTTAACGGCTCGCCTTCt < 2:431246/150‑1 (MQ=255) ttttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGGCGCTCCAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAACAGCTCTTCATGGGTGAACGGCTCACATTCtc > 1:438121/1‑149 (MQ=255) ttttCGACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCATAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTg < 2:237614/150‑1 (MQ=255) ttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGcc < 1:1016655/150‑1 (MQ=255) aaaaAGCGCCTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTGCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACtt < 2:855990/150‑1 (MQ=255) | TGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTT > NC_000913_3_hsa_tpiA/3815663‑3815954 |
| Alignment Legend |
|---|
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: ‑ |