| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | E112* (GAA→TAA) | yqaB ← | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,817,170 | 0 | C | A | 98.2% | 167.3 / NA | 56 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (0/1); new base A (21/33); total (21/35) | |||||||||||
| 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 | |||||||||||
TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCCT > NC_000913_3_hsa_tpiA/2817026‑2817316 | tCGGTCTCACGCCCATACGCTTCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcc < 2:768923/150‑1 (MQ=255)gcGGTTGCACGCCCATACGCCGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcc < 2:367411/149‑1 (MQ=255) gTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATATTGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCg > 2:898284/1‑150 (MQ=255) tGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGtt > 1:4111/1‑150 (MQ=255) cACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGGTTATGGTATTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc > 1:780719/1‑150 (MQ=255) cgtccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGCTCGGCCGTGACGACGGAGCCAAATTGATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa < 1:575451/147‑1 (MQ=255) cccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGAAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa < 2:1017108/150‑1 (MQ=255) gCTGCGCGCACGACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTg < 2:740983/150‑1 (MQ=255) gCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTg < 2:740806/150‑1 (MQ=255) tGCGCGGACAACAAAAATGTGTGTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg < 2:453687/150‑1 (MQ=255) gggggcACAACAAAAATGGGTCTGGCGGGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGc < 2:77546/146‑1 (MQ=255) ccgtccacaaAAATGTGTCTGGCGCGGGGTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgac < 1:206882/144‑1 (MQ=255) acagccgaaaTGGGTCCGGCGCGGGGGTATGGTGGTTGACGTGATCGGCAGCGACGACGGCGTCAACATAATGGCGTAAGCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac < 2:421075/143‑1 (MQ=255) caacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc < 1:1008904/150‑1 (MQ=255) acaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAGATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt < 2:1048503/150‑1 (MQ=255) aaaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑c > 2:91889/1‑150 (MQ=255) tCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTc < 1:764364/150‑1 (MQ=255) cTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTcc > 2:867632/1‑149 (MQ=255) tttATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATcaac < 1:5192/150‑1 (MQ=255) tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa < 2:845756/100‑1 (MQ=255) tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa > 1:845756/1‑100 (MQ=255) tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAg < 1:1080814/150‑1 (MQ=255) gTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc > 1:428946/1‑150 (MQ=255) gTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACACCAACAAGAGAAGACGGTTc > 2:287378/1‑150 (MQ=255) agcGGCAGGGACGACGGCGTCAAAATAATGGCGTAAGCCCAGGTGGGCCAGCAATGCCCCAGCGATGGCGCTTTAAATCCCCTGTCCTAGAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGACGAAGCGGTTAGAc < 2:1018099/148‑1 (MQ=255) aTCGGCAGCGGCGACGGCGTCAAAATAATGGCGTAATCCCAGATGCGCCAGCAATGCCTCAGCGATGGCGCTTTATCTCCCCGTTTCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGAc < 2:274031/150‑1 (MQ=255) tCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTcac < 1:945451/122‑1 (MQ=255) tCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTcac > 2:945451/1‑122 (MQ=255) gCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTa < 1:91889/150‑1 (MQ=255) gCAGCGACGACGGCGCCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTa < 2:960355/150‑1 (MQ=255) ggCGTCAAAATAATGGCGTAATCCCAGTTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCCAATTTTCACCACAGCAACAAGAGGCAGCGGTTCGACGCTATCCATCAGCAt > 2:1010768/1‑150 (MQ=255) tCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTACCGCCCATTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActt < 1:867632/150‑1 (MQ=255) aaaaTAATGGCGTAATCCCAGTTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtct < 1:1010768/150‑1 (MQ=255) cctcctGGAGTGATCCCAGGTGCGCCGCCAATTGCGCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa < 1:566321/145‑1 (MQ=255) aataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTGCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTACACCACATCAACAAGAGGAAGCGGTTCAACGCTATCCAGCAGCATActtcttg > 1:1088996/1‑149 (MQ=255) ggCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCtt > 1:145066/1‑150 (MQ=255) tAATCCCAGGTGCGCCAGCAATGCCTCAGCGACTGCCCTTCTACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGt < 1:1043380/150‑1 (MQ=255) aTCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca > 2:276857/1‑126 (MQ=255) aTCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 1:276857/126‑1 (MQ=255) cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTGTTc > 2:468482/1‑150 (MQ=255) cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACAGCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTATTTc > 2:1055608/1‑150 (MQ=255) aGGTGCGCCAGCAATGCCCCAGCGATGGCGCTTTACCTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCa < 2:139552/150‑1 (MQ=255) tGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCAcgc < 1:1091624/150‑1 (MQ=255) cAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTaa > 1:462613/1‑150 (MQ=255) cAGCAATGCATAAGCGATGGCGCTTTAACTCCACGTTCCTACAGCCATTGGGCGATGACCATG‑CCAACTTTTCACCACAACAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTaa < 2:337628/150‑1 (MQ=255) aaTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAgg > 2:415730/1‑86 (MQ=255) aaTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAgg < 1:415730/86‑1 (MQ=255) gCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGc > 1:65662/1‑150 (MQ=255) cTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCgg < 2:4111/150‑1 (MQ=255) tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCggg > 2:365426/1‑150 (MQ=255) aGCGATGGCGCTTTACCTCCTCAATCCGACGGCCATTGGGAGAC‑ACCATGAAGAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTc < 1:566553/150‑1 (MQ=255) cGATGGCCCTTTATCTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCga < 1:287378/150‑1 (MQ=255) acggCGCTTGCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCgaga < 1:433111/148‑1 (MQ=255) ccTTTAACCCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc < 1:545525/149‑1 (MQ=255) tttAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTGTCCGGCAGCATACTTCTTCCTGCTTCTGTTTTTTCACTCGCTACCGCATCCGGGCTGAGATcatccc > 2:240917/1‑145 (MQ=255) tttAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCCt > 1:974448/1‑150 (MQ=255) | TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATG‑CCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCCT > NC_000913_3_hsa_tpiA/2817026‑2817316 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |