| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| MC JC | NC_000913_3_hsa_tpiA | 3,815,859 | Δ82 bp | [rph]–[rph] | [rph], [rph] | |
| Missing coverage evidence... | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| seq id | start | end | size | ←reads | reads→ | gene | description | |||
| * | * | ÷ | NC_000913_3_hsa_tpiA | 3815859 | 3815940 | 82 | 32 [0] | [0] 32 | [rph]–[rph] | [rph],[rph] |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_tpiA | = 3815858 | 0 (0.000) | 28 (0.710) | 27/266 | 0.6 | 100% | pseudogene (24/48 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH |
| ? | NC_000913_3_hsa_tpiA | 3815941 = | 0 (0.000) | pseudogene (609/669 nt) | rph | ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH | |||||
TTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCG > NC_000913_3_hsa_tpiA/3815713‑3816004 | tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgt > 1:465487‑M1/1‑146 (MQ=255) ttgctAAGCGCAAATTCAATAAACTGGCGATGATATGGTTTCATGCCTTCGCTATTCATCTTACTTTTCTGCAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTGAAAAATCAGTTTGCCAGCGCCCCCTTCTGCcgtcccctgcgcttc > 1:616673‑M1/1‑134 (MQ=255) gcAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcg < 1:383526‑M1/149‑25 (MQ=255) aaTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCGGCCTTCTGCcgtcccctccacttcaatgatgcgcccgtct > 2:397356‑M1/1‑118 (MQ=255) aTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAACAGGCGCCTCATCAATGGCCTTAAAATTCAGTTTTACAGGGCCGCCTTCTGCcgtctcctgctcttcggtgatgcgcccgtcttc > 1:28775‑M1/1‑116 (MQ=255) tAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgca > 2:46442‑M1/1‑115 (MQ=255) tAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgca < 1:46442‑M1/126‑12 (MQ=255) gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtctt < 1:530620‑M1/138‑33 (MQ=255) gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtctt > 2:530620‑M1/1‑106 (MQ=255) agatggTTTCATGCCTTCGCTCCTCACCTGACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgt < 2:625605‑M1/147‑48 (MQ=255) tCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcataactacgttcatgtcg > 2:612985‑M1/1‑94 (MQ=255) aTGCCTTCGCTCCTTATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggt < 1:390939‑M1/149‑58 (MQ=255) aTGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggt < 1:223737‑M1/149‑58 (MQ=255) cTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTCCTGCcgtccccagcacttcaattatgcgcccgtcttcggtcatcactacgttcatgtcggtctct > 2:173814‑M1/1‑88 (MQ=255) ctcctcATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggc > 1:372088‑M1/1‑83 (MQ=255) actTACTTTTCTACAAAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtccctgcggcagagtct < 2:528240‑M1/148‑74 (MQ=255) cTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaac > 1:428996‑M1/1‑71 (MQ=255) ttttCTACAGAC‑AAAAAAAAGGCGACTCGTCAGTCGCCTTAAAAAACAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacg > 1:578217‑M1/1‑70 (MQ=255) aCAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcc < 1:422606‑M1/149‑86 (MQ=255) aC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagat > 2:702523‑M1/1‑60 (MQ=255) ataaaaaaaaggCGGCTCGTCAGGCGCATTAAAAAGCAGTTTGCCAGCTCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagat < 2:539969‑M1/147‑90 (MQ=255) ttAAAAAACAGTTTGCCAGCACCGCCTTCTGCcgtcccctgcacttcaatgatgcccccgtcttcggtcatcactacggtcatgtcggtctctgcgacagagtcttcaacggattccagatcgcgaaccgcgtcgccgttcacaattcc > 1:673009‑M1/1‑32 (MQ=255) aaaaaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccga < 1:702523‑M1/149‑120 (MQ=255) gTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaact > 1:609274‑M1/1‑22 (MQ=255) tttGCCAGCGCCGCCGTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactg < 1:561613‑M1/149‑129 (MQ=255) gCCAGCGCCGCCGTCTGCcgtccccgtcccttcaatgagtctcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcgg < 2:352400‑M1/149‑132 (MQ=255) gcgcCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctac < 2:428996‑M1/149‑136 (MQ=255) gcgcCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctac > 1:444117‑M1/1‑14 (MQ=255) cTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgtccttgtcggtctctgccgcagagtcttcaacgtattacagatcgcaaaccgcttcgccgttcacaattccgacagcaactgcggctaccatccct < 2:616673‑M1/149‑143 (MQ=255) cTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttccacgtattccagatcgcaacccgcttggccgttcacaattccgacagaaactgcggctaccatccctttc > 1:421957‑M1/1‑4 (MQ=255) tGCcttcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttca < 1:263693‑M1/149‑147 (MQ=255) tGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttca < 1:15927‑M1/149‑147 (MQ=255) | TTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAC‑AAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCG > NC_000913_3_hsa_tpiA/3815713‑3816004 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
| Reads not counted as support for junction |
| read_name Not counted due to insufficient overlap past the breakpoint. |
| read_name Not counted due to not crossing MOB target site duplication. |