| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,815,943 | 2 bp→A | pseudogene (606‑607/669 nt) | rph ← | 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 | 3,815,943 | 0 | T | . | 81.8% | 52.7 / 15.5 | 24 | pseudogene (607/669 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Reads supporting (aligned to +/- strand): ref base T (0/2); major base . (10/8); minor base A (3/1); total (13/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.16e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.81e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 3,815,944 | 0 | C | A | 90.0% | 47.4 / ‑3.0 | 21 | pseudogene (606/669 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| Reads supporting (aligned to +/- strand): ref base C (0/2); new base A (10/8); total (11/10) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.74e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
ACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTT > NC_000913_3_hsa_tpiA/3815799‑3816084 | aCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGAccct > 2:408829/1‑148 (MQ=255) cAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGAccctg < 1:212241/149‑3 (MQ=255) aaaaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGATTGCCAGCGCCGCCTTCTGAGTCGCGACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGAccctgc > 1:534502/1‑146 (MQ=255) ggCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAat > 1:422119/1‑149 (MQ=255) catcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCTCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATgcgc > 1:114602/1‑149 (MQ=255) catcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATgcgc < 2:53659/149‑1 (MQ=255) atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGcc > 1:421075/1‑149 (MQ=255) aaaaaTCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGtca > 2:128852/1‑149 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTAc < 2:78111/149‑1 (MQ=255) aGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCACGTCTTCGGTCATCACTAc > 2:233869/1‑149 (MQ=255) cTGCGTCGCGACAAGGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCGTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCg < 2:273258/149‑1 (MQ=255) tGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCgg < 1:128852/149‑1 (MQ=255) ttcgattcCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTAt > 1:344198/1‑149 (MQ=255) attcCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa > 1:248524/1‑149 (MQ=255) atccccgTCGGGCCAGAGCCAACAACATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCCGCTG‑ACCCTGCACTTCAATTCTGCGCCCGTCTTCGGTCATGACTACGTTCATGTCGGTCTCCGCGGCAGAGTCTTCAACGTATTCCa < 1:542164/146‑1 (MQ=255) ccTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCg > 1:470343/1‑149 (MQ=255) gggCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCACTGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCaaa < 2:248524/149‑1 (MQ=255) aacaaGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCaa > 2:221342/1‑60 (MQ=255) aacaaGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCG‑ACCCTGCACTTCaa < 1:221342/60‑1 (MQ=255) gcgccGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAc < 1:544261/145‑1 (MQ=255) gcgccGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAc < 1:544265/145‑1 (MQ=255) gCTCGCCTTCTGCCG‑ACCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCa > 1:20227/1‑149 (MQ=255) cTTCTGCCG‑ACCCTGCACTGCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCtt < 2:209584/149‑1 (MQ=255) ttCTGCCGA‑CCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCttt > 1:148633/1‑149 (MQ=255) | ACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTT > NC_000913_3_hsa_tpiA/3815799‑3816084 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |