| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,042 | C→T | 34.6% | intergenic (+266/+376) | gltP → / ← yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,296,042 | 0 | C | T | 34.6% | 42.4 / 43.2 | 58 | intergenic (+266/+376) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base C (24/14); new base T (10/10); total (34/24) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.05e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.35e-01 | |||||||||||
CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAA > NC_000913_3_hsa_tpiA/4295896‑4296173 | cGGTTAAGGCTTTTACGCCCCAACCGACATCAACGCCTGATGCGACGCTTTACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGc < 1:686446/149‑1 (MQ=11) ggATAAGGGTTTTATGCCGGATCGGACATCAGCGCCGGATGCGACGCTTAACGCGGCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGcc < 1:210643/149‑1 (MQ=11) catggCGTCTACACCGCGTCCGACAGCAACGCCTGATGCGACGCTTTACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGTGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGa < 2:400199/146‑1 (MQ=11) gCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCCTGATTTCGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTCATGCg > 1:324198/1‑149 (MQ=255) cGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGa < 1:326859/149‑1 (MQ=17) cGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGAGTATACGCCTCATCCGACATCAATGCCTGATGCGa < 2:671891/149‑1 (MQ=255) ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGcc > 1:676994/1‑149 (MQ=35) cGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCTTACGCCAGACAGCGCAATAGCCTGATTTAGCGTTATTTTGTAGGTAGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCcg < 1:275956/149‑1 (MQ=255) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCcccgc > 1:511270/1‑148 (MQ=21) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGt > 1:680781/1‑149 (MQ=37) tCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAAAAGCCTGATTTAGCGTGCTTTTGTAGGACGAAAAAGGCGTTTACGCCGCCTCCGACATCCACGCGTGATCCGACCCGTACcgccgc > 2:417859/1‑146 (MQ=11) tCCGACAGCAACGCCTGCTGCGCCGCGTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTc < 1:584905/149‑1 (MQ=11) cGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTCCGCCCGGCGGCGCATTAGCCTGATTTAGCGTGCTTCTGTAGGTCGGACAAGGCGTTTACGCCGCATCCGACATCAATGCCTGCCCCGACCCTTGCCGCCTcct > 2:115251/1‑147 (MQ=11) cGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCcgc < 1:624271/144‑1 (MQ=21) cGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCcgc > 2:624271/1‑144 (MQ=21) cGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCtt > 1:465223/1‑149 (MQ=21) gACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTAATGAGACGCTTGCcgtgcccta > 1:175483/1‑142 (MQ=11) aCATCAGCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTAt < 1:40740/149‑1 (MQ=21) aTCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCa > 1:213003/1‑149 (MQ=37) tccaCGCCTGATGCGACGGTTAACGCGTCTTATCGGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAg < 1:28159/146‑1 (MQ=255) tCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAg > 1:153788/1‑149 (MQ=25) tCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAg > 1:154034/1‑149 (MQ=25) tCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGAAGCTTGCCGCGTCTTATCAg > 1:38949/1‑149 (MQ=37) cAACGCCTGATCCTACGCTTACCGCGTCTTATCAGGCCTACGCCAGCCAGCGCAATACCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAgg < 1:26508/149‑1 (MQ=11) aaCGCCTGATGCGACGCTTAGCGCGTCTTATCAGGCCTACGCCAGACAGCGCTATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTCCGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc < 1:198942/149‑1 (MQ=255) aCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCTTCTTATCAGGcc > 1:634860/1‑149 (MQ=25) aCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGAATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGcc > 2:423510/1‑149 (MQ=21) gCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGGGTAATGGCGTGGTTGGGGGTGCTTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATGAACGCCTGATGCGACGTTTGCCGCGTCTTTTCAGGCCtg > 2:526567/1‑148 (MQ=11) gCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCcgc < 2:542055/134‑1 (MQ=25) gCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCcgc > 1:542055/1‑134 (MQ=37) gCGACGCTTAACGTCTCTTATCAGGCCTACGCCAGACAGCGCAATAGCTTGATTTAGCGTGATATTCTAGGTCGGATAAGGCGTTTCCGCCGCATCCGATATCCACGCCTGATGCGACGATTGCCGCGTCTTTTCAGGCCTACGCCAGa < 2:630027/149‑1 (MQ=14) gACGCTTAACGCGTCTTATCAGGCCCAACACGGTTAGTGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCTAAACa > 2:672056/1‑149 (MQ=11) aggcgTGTTATCAGGCCTAGGGCAGACGGCGCAATAGCCGGATTGAGCCTGATTTTGTAGGTCGGATAGGGCGTTTACGCCGCATCCGACATGAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATa < 2:277354/147‑1 (MQ=11) gcggccgaTCAGGCCGACGCCAGACGGCGCAATAGCCTGAGTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGc < 1:182152/142‑1 (MQ=11) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCATGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCTAAACAGCGCTATAga > 2:596157/1‑148 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTGTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACAGCAACGCCTAATGCGACGCTTGCCGCGTCTTATCAGCCCTACGCCAGACAGCGCAATCGc > 2:176520/1‑149 (MQ=11) aGGCCTACGCCAGACAGGACAATGGCCTGATTTCGCGTGATTTGGTGGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGc < 2:614440/149‑1 (MQ=11) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGTATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGa < 1:262057/149‑1 (MQ=38) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGAt > 1:461099/1‑149 (MQ=38) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc > 2:575454/1‑93 (MQ=17) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTc < 1:575454/93‑1 (MQ=255) cAATAACCTGATTTAGCGTCATTTTGTAGGGCGGATAAGGGGTTTACGCCGCATCAGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAt < 2:556127/149‑1 (MQ=11) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCCATAGCCTGATTTAGCTTGATTTTGTAGGTCGGCTa > 1:62503/1‑149 (MQ=255) aTAGCCTGATTTAGCGTGATTTTGCAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGACGCGACGCTTGCCGCGTTTGATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATaa < 1:512121/149‑1 (MQ=255) gattgtGATTTGGGGTCATTGTGTGGGGCGGATAGGGCGTTTACGCCGGATAAGACGTCACCGCCTGATGCGACGCTTGCCGCGTCCTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAg < 2:322586/144‑1 (MQ=11) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTCTGTAGGTCGGATAAGGCg > 1:471081/1‑149 (MQ=38) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGCCAGCGCAAAAGCCTGATATAGCGTGATTTTGTGGGTCGGATAAGGCCTTTAt > 2:680626/1‑149 (MQ=14) ttttGTAGGTCGGATAAGGCGTTTAAGCCGCAGCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCg > 1:689410/1‑149 (MQ=25) ggTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGGAAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGCATAAGGCGTTTATGCCGCATCCGACCTCaa > 2:652265/1‑149 (MQ=255) gTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAAc > 1:671891/1‑149 (MQ=38) tCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGAGTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACg > 1:172673/1‑149 (MQ=255) tCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACACCGCACTAGCCTGATTTATCGGCAACTTGTAGACCAGATAAGGCGTTTATGCCCCATCCGCCATCACCg > 2:667595/1‑149 (MQ=11) gATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTCGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCt > 2:37214/1‑149 (MQ=38) gATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCt > 1:422832/1‑149 (MQ=39) ggCGTTTACCCCGCACCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGc < 1:690408/149‑1 (MQ=255) gCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTATTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTATGCCGGACATGGCGCTTATGCCGCAGCCGACATCAACGCCTGATGCg > 2:420184/1‑149 (MQ=14) gccgcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCACCGCCTGATGCGACGCTTac > 1:533276/1‑148 (MQ=25) cgcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACa < 1:642797/124‑1 (MQ=35) | CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAA > NC_000913_3_hsa_tpiA/4295896‑4296173 |
| 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: ‑ |