| 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 | . | 94.9% | 153.9 / 2.9 | 40 | 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 (0/2); new base . (19/18); total (19/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.87e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.37e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 2,173,362 | 0 | C | . | 94.9% | 152.4 / 1.6 | 40 | 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 (0/2); new base . (19/18); total (19/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.87e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GAACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGC > NC_000913_3_hsa_tpiA/2173215‑2173499 || gAACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACCAGCACATTAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATaccaccg > 1:30942/1‑148 (MQ=255) cAGATATCCACGATGCACGACGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATAACCCGCCACACAAACAGCAATCAAAAGGGTGAGGGGGATAAAAACCAGGCTCGCCGAAaccaccgccg > 2:369094/1‑145 (MQ=255) aTTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATaccaccgccgtat > 2:326161/1‑142 (MQ=255) cACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTccc > 2:277846/1‑149 (MQ=255) cGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGATAAGTGGTTGAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAAc > 1:256851/1‑149 (MQ=255) gACCGCCAGCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCg < 2:1052444/149‑1 (MQ=255) cGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGAt < 1:310464/149‑1 (MQ=255) ccATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTAAGTGGGATAAAAATCAGGCTTGCCGATATCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCa > 1:943644/1‑149 (MQ=255) ccATCACCACGAAGAAGCCGATCGTTGCAGGCTCGCCAAACGGCAGCACCTGATCAGCCGCCACAAAAACAGGAATAAAAATGGTGAGTGGGATAAAAATCAAGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGACGGATCa > 2:675354/1‑149 (MQ=255) accGCCACGAAGAAGCCGATGGTGGCAAGATCGCAAAACGGCAGCACATGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGGTGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAg < 2:630141/147‑1 (MQ=255) aTCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCCGCCACGCCGGATCAAg > 2:546472/1‑149 (MQ=255) ccACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCa > 1:483516/1‑149 (MQ=255) cACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGACTGGTAGATGTTTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCaa > 1:782355/1‑149 (MQ=255) tggtggCAAGAGCGCCTAACGGCATCACCTGTTTACCCGGCACACAAACAGCAATTAAAATGGTGATTGGGATAACAAGCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGTATCAAGGCCAATCAGGAACTCCTGa < 2:464840/149‑1 (MQ=255) gtggCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGAcc < 1:987349/149‑1 (MQ=255) ggCAAGATCGCGAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGAccgc < 2:278638/149‑1 (MQ=255) gCAAGTTCGCGAATCGTCAGTACATGATTTCCTGGCACTCATACCGGAATTTCTATTGTAGGTGGGATAAAACCCCGGCTGGGCGATAC‑‑CCCCGCTGTATGTTCCAGCAGCACCGCCGGATCTAGGTCATTCAGGAACTCCTGAccgcc < 2:1083/149‑1 (MQ=255) aTCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCACCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCCATCAGGAACTCACGCCCGCCCAAcc > 2:446701/1‑148 (MQ=255) gCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGCTCGCAGGGAGTCTTGCAGGTACGA‑‑CCTCCGTATGTCCCAGCCGCAACGCCGGATCGCGGCCAATCAGGAACTCCTGACCGCCGACCTTCg > 1:523160/1‑149 (MQ=255) gcaCCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCATCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGa < 2:444515/149‑1 (MQ=255) acTGATGACCCTGAACACAGACAGCAATTAAAATGGTGATTGTGATAAAAATCAGGTCTGCCGATAC‑‑TTCCGCCGGATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGACCTCCTGACCGCCGAACTTCGCCTGTAAACGACTa < 2:329853/148‑1 (MQ=255) gATTACCCGGCAAAAAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGa < 2:463747/149‑1 (MQ=255) acacaAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAACCGCCTGCGAGCCTGCTTGGc > 2:1056868/1‑149 (MQ=255) acaAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGa < 1:277846/149‑1 (MQ=255) aGCAATTAAAATGGTTAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATACGGGACTCCTGACAGCCGAACTTCGCCTGTAAACGACTACGGGCCTGCTTGGCGATGGGCg > 1:239530/1‑149 (MQ=255) aGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGAGCg > 1:632968/1‑149 (MQ=255) gCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGCGCCTGCTTAGCGATAGGCGt > 1:866253/1‑149 (MQ=255) aaTGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAAccat < 1:454046/149‑1 (MQ=255) gTGAGGTGGATAAACATCAGGCTGCCCGATACCA‑‑CCGCCTGATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCTAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAAccatccat < 2:30942/149‑1 (MQ=255) tGGGATTAAAATCAGGCTTGCTGATGCCA‑‑CCGCAGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCGGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATgg < 1:292204/149‑1 (MQ=255) tGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATgg < 1:326161/149‑1 (MQ=255) gggaaTAAAAAGCAGGCTTGACGAAACCA‑‑CCGCGGGATTGCCCAGCAGCAACTGCTGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATgg < 2:239530/145‑1 (MQ=255) gATAAAAATCAGGCTTGCCGATAC‑‑CCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGtt < 1:644761/149‑1 (MQ=255) aTAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGtt > 2:251287/1‑148 (MQ=255) aTAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGtt < 1:251287/148‑1 (MQ=255) aaaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCatgatg < 2:910028/141‑1 (MQ=255) aaaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCatgatg > 1:910028/1‑141 (MQ=255) aaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGATTAATc > 2:715170/1‑149 (MQ=255) aTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCAc > 1:1059667/1‑149 (MQ=255) aGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCg < 1:550688/149‑1 (MQ=255) ttGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGc > 1:765030/1‑149 (MQ=255) ccGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGc > 1:514017/1‑110 (MQ=255) ccGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGc < 2:514017/110‑1 (MQ=255) || GAACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGC > NC_000913_3_hsa_tpiA/2173215‑2173499 |
| 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: ‑ |