| 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 | 8 [0] | [0] 8 | [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) | 8 (0.350) | 8/264 | 1.6 | 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 | |||||
GACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAA > NC_000913_3_hsa_tpiA/3815798‑3816065 | aacccctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTccc < 1:29069‑M2/6‑1 (MQ=255) ctctgctttctaagagcaaattcaataaactcgcgctgatatgttttcatgccttcgctcctcatcttacgtttccacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTg < 2:79717‑M2/9‑1 (MQ=255) gctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaa > 1:130298‑M2/133‑149 (MQ=255) caaaccggcactgatagagtttcatgccttcgcgcctcaacatacttttcaacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTAACCTGCACTTCAATGATGCGCCCGTCTTCg < 2:220036‑M2/34‑1 (MQ=255) gcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtcatca > 1:355654‑M2/109‑149 (MQ=255) aaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCg > 1:23120‑M2/59‑149 (MQ=255) cgcgttaaatatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCATTGGTGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTTTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACaa < 2:303403‑M2/113‑1 (MQ=255) cagcttgccagtgccgcctgctgcCGTCCCCTGCACTTCCACGATGCGCCCGTCTTCGGTCATCACTACGTTCATGCCGGTCTCTGCGGCAGGGTCTTCAACGTAGCCCAGATCGCAAACCGCTTCGCCGTTCACACTTTCGACAGaaa < 2:227726‑M2/125‑1 (MQ=255) | GACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAA > NC_000913_3_hsa_tpiA/3815798‑3816065 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |