| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,173,363 | Δ2 bp | intergenic (‑1/+1) | gatC ← / ← gatC | pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC/pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,173,361 | 0 | C | . | 95.7% | 196.2 / ‑0.0 | 47 | pseudogene (2/442 nt) | gatC | pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC |
| Reads supporting (aligned to +/- strand): ref base C (1/1); new base . (21/24); total (22/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.92e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 2,173,362 | 0 | C | . | 95.7% | 196.0 / ‑0.4 | 47 | pseudogene (1/442 nt) | gatC | pseudogene, galactitol‑specific enzyme IIC component of PTS;transport; Transport of small molecules: Carbohydrates, organic acids, alcohols; PTS system galactitol‑specific enzyme IIC |
| Reads supporting (aligned to +/- strand): ref base C (1/1); new base . (21/24); total (22/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
CAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGCATTA > NC_000913_3_hsa_tpiA/2173218‑2173503 || cAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAAGCTTGCCGATaccaccgccg > 1:359851/1‑145 (MQ=255) aCGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACAA‑‑CCGCCGTATGTGCca > 1:657726/1‑149 (MQ=255) aCGAGGCACGGCGACCGTCATGGCTACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTCGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCca < 1:66212/149‑1 (MQ=255) cGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCcag < 2:1126516/149‑1 (MQ=255) gATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGACTTGCCGATACCA‑‑CCGCCGTATGTCCcagc > 1:546722/1‑149 (MQ=255) gATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAACGGGATAAAAATCAAGCATCCCCATACCACCCCCCC‑‑ATGTCCcaac > 2:177993/1‑147 (MQ=255) gACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGTCGTATGTCCCAGCAGCAACGCCg < 2:130815/149‑1 (MQ=255) gACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCg < 2:694231/149‑1 (MQ=255) gCCATCGCCACGAATAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAACTAAAATGGTGAGTGGTATAAAAACCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATc < 2:456578/149‑1 (MQ=255) ccATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCa > 2:725074/1‑149 (MQ=255) aTCGGCACGAAGAAGCCGGTGGGGGCAAGAATGCCAAACGGCAGCACCTGA‑GTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCGTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAg < 2:1032302/149‑1 (MQ=255) cACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCaa > 1:869628/1‑149 (MQ=255) aCGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAAt < 1:187071/149‑1 (MQ=255) gaagCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAggc > 1:890494/1‑148 (MQ=255) aagCAGATGTGGGCAAGGTCGCCAAACGGTAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGAGAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCTACGCCGGATCAAGGCCAATCAGGaa < 2:1097620/149‑1 (MQ=255) gCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAGTTAAAAGGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCACGGCCAATCAGGAACt > 1:542761/1‑149 (MQ=255) gATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAACAGGCGGAGTGGGGTAAAAATCAGGATTGATGTTACCA‑‑CGGCCGTGTTGCCCATCAGCAACTCCGGATCAAGGCCAATAAGGAACTCCt > 2:526966/1‑149 (MQ=255) gCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCTACGCCGGATCAAGGCCAATCACGAACTCCTGaccacc > 1:1046359/1‑149 (MQ=255) gCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCa > 1:860828/1‑133 (MQ=255) gCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCa < 2:860828/133‑1 (MQ=255) gCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGAccgcc > 1:979965/1‑149 (MQ=255) gATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAAc > 1:166355/1‑149 (MQ=255) cGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTc < 2:607108/149‑1 (MQ=255) gCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCagcagc > 1:442989/1‑103 (MQ=255) gCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCagcagc < 2:442989/103‑1 (MQ=255) ccAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGCTCAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTAAGTCCCAGACGCAACGCCGGATACAGGCCAATACGGGACCCCTGACCGACGCACTCCga > 1:519918/1‑148 (MQ=255) ccAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGc < 2:618370/149‑1 (MQ=255) ccAAACGGCAGCA‑CTGAGTGACGCATCACAGTAACAGCAATGAAAATCGTGAGTGGTATAAAAATCAGGCGTGCCGATACCA‑‑CCGCCGTATGTCCTAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTgcgc < 2:519918/149‑1 (MQ=255) aCGGCAGCACCTGA‑TTGCCCGGCACACAAACAGCAATTAAAAGGGTGAGTGGGATAGAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGGCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGt < 2:983474/149‑1 (MQ=255) a‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTCCGCCTGTAAACGACAACGAg > 1:635850/1‑149 (MQ=255) ttACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGc < 1:725074/149‑1 (MQ=255) cGGCACACAAAAAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCt < 2:478832/149‑1 (MQ=255) ccacaaaAACTGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGCAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTa < 1:170012/148‑1 (MQ=255) acaAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGc < 2:446221/120‑1 (MQ=255) acaAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGc > 1:446221/1‑120 (MQ=255) aCAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATggg > 1:840062/1‑149 (MQ=255) cAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGc < 1:526966/149‑1 (MQ=255) aTTAAAATGGTGAGTGGGATAAAAATCAGGGTTGCCCATACAA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCAATGGGCGTTaa > 2:193107/1‑149 (MQ=255) ttAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAAATCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTaaa < 2:637079/149‑1 (MQ=255) aaTGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAAccat > 2:888732/1‑149 (MQ=255) gTGGTATAAAAAACAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGCACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCatgatg < 1:228643/149‑1 (MQ=255) tGGGCTAAACATCACGCTTGCGCATAC‑‑CCGCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACGTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATgg < 2:789121/149‑1 (MQ=255) gATAAAATTCAGGCTTGCCGATACCA‑‑CTGTCGTATGTCCCAGCATCAACGCTGGTTCTAGTCCAATGGGGGACTCTTGACCGTCGGACTTTGCCTGTATATGGTTACGAGCCTGCTTTGCGGTTGGTGTTTAGCCATTCATGATGGGtt > 2:222173/1‑149 (MQ=255) aaaaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTaa < 2:979965/149‑1 (MQ=255) aaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGATTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATc < 2:890494/149‑1 (MQ=255) aaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATc > 2:487584/1‑149 (MQ=255) ccGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGCAtt < 1:487584/149‑1 (MQ=255) cGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCCTGGCCttt > 2:73898/1‑148 (MQ=255) || CAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGA‑TTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGCATTA > NC_000913_3_hsa_tpiA/2173218‑2173503 |
| Alignment Legend |
|---|
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: ‑ |