| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 2,173,361 | Δ2 bp | 100% | pseudogene (1‑2/442 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 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_pgi | 2,173,361 | 0 | C | . | 91.4% | 125.8 / 4.7 | 35 | 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 (2/1); new base . (19/13); total (21/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.53e-01 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| Rejected as polymorphism: Polymorphic indel expands or contracts a homopolymer stretch. | |||||||||||
| * | NC_000913_3_hsa_pgi | 2,173,362 | 0 | C | . | 91.5% | 123.6 / 2.0 | 35 | 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 (1/1); new base . (19/13); total (21/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.67e-01 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| Rejected as polymorphism: Polymorphic indel expands or contracts a homopolymer stretch. | |||||||||||
CGGAACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGC > NC_000913_3_hsa_pgi/2173213‑2173499 || cagAACATATTTCCACGACGCACGGCGGCAGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCCGATGTCCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATaccac < 1:988966/147‑1 (MQ=255) gCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAACACCTGGTTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGCGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGGATGTCCCagcagc > 2:557828/1‑149 (MQ=255) cGCCATCGCCACGAAGAAGCCGATGGTGGCCAGATAGCCGCACCGGTGTACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGAt < 1:939457/149‑1 (MQ=255) gCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAGCAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGAAGAAACACCGGATCAAGGcc > 1:446621/1‑149 (MQ=255) cACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCaa < 1:411047/149‑1 (MQ=255) aCGAAGAATCCGATGGGGGCAAGATCGCCAAACGGCAGCAACTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAAt < 2:64480/149‑1 (MQ=255) agaagCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCTGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAgg > 2:17837/1‑149 (MQ=255) agaagCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATA‑‑ACACCGCCGTATGTCCCAGCAGCAACGCCTGATCAAGGCCAATCAgt > 2:697858/1‑148 (MQ=255) ccGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTTCCAGCAGCAACACCGGATCAAGGCCAATCAGaaaata > 1:197829/1‑146 (MQ=255) gATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACGCCt > 1:774351/1‑149 (MQ=255) aGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGCACTCCTGACCGCCGaa > 1:564169/1‑149 (MQ=255) ccAAACGGCAGCACCTGATTACCCGTCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGc < 1:787866/149‑1 (MQ=255) ccAAACAGCAGGACCTGATGACCCGGCACAAAAACAGCAATTAAAATGGTGAGTGGGATAACAATCAGGCTTGGCGATAC‑‑CCCCGCCGTACGTCCCAGAAGCAACGCCGGATCAAGGCCAATCAGGAGCTCCTGACCGCCGAACTTCGc < 2:283340/149‑1 (MQ=255) gcaCCTGATTACCTGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGa < 1:17837/149‑1 (MQ=255) ttACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGc > 1:733242/1‑149 (MQ=255) ccGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGc > 2:385108/1‑149 (MQ=255) ccGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACCACTACGAGCCTGc > 2:963890/1‑149 (MQ=255) caAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGGCGCAACAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCAGCACTACGCCTGTAAACGACTACGAGCGTGCTTAGCGAt > 1:47997/1‑149 (MQ=255) aaaCAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTaaa < 2:929339/125‑1 (MQ=255) aaaCAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTaaa > 1:929339/1‑125 (MQ=255) aaCAGGAATTAAAAGTGTGAGTGCGATAAAAATCAGGCTGGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGGAATCGCCGACGAGGCTGCTTAGCGATgt < 2:821789/149‑2 (MQ=255) aCAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATggg < 1:111309/149‑1 (MQ=255) cAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGCTGGGc > 1:55337/1‑149 (MQ=255) aaTTAAAATGGTGAGTGGGATCAAAGTCAGGCTTGCCGATAC‑‑CCCCGCCGTATGTCCCAGCAGCAACGCCGGAGCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACTACCCTCCTTACCGATGGGCGTTa > 2:117707/1‑149 (MQ=255) aaTTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTa > 2:576111/1‑149 (MQ=255) aaTGGTGAGTGGNATAAAAATCAGTTTAGACGATATCA‑‑CCGCCGTATGTACCAGCAGCAACGACGGATCAAGGCAAAGCAGGAAATCCTGCCCGCCGAACTTCGCCTGTAAACGACTACGAGCCTTCTTAGCGATGGGCGTTAAAccat < 1:14137/149‑1 (MQ=255) aTGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAACAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAAATTCGCCTGTAAACAACTACGAGCCTGCTTAGCGATTGGCGTTAAAccatc > 2:986103/1‑149 (MQ=255) tGAGTGGGATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCAATGGGCGTTAAACCAGCCatg > 1:68267/1‑149 (MQ=255) tGGTATAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAGCGCCGGATCAAGGCCAAGCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATgg < 2:611315/149‑1 (MQ=255) gATAAGAATCAGGCTTGCCCATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGtt < 1:144670/149‑1 (MQ=255) aTAAAAATCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGAAGGGttt > 2:363911/1‑149 (MQ=255) aaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAACCTCCTTAGCGATGGGCGTTAAACCATCCATGATAGGTTTAATc > 2:91282/1‑149 (MQ=255) aaaTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCACAGCAGCAACGCAGGATCAAGGCCAATCAGGAACTACTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGCTGGGCGTTAAACAACCCATGATGGGTTTAATc > 2:39449/1‑149 (MQ=255) aTCAGGCTTGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCAc > 1:748530/1‑149 (MQ=255) ttGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGc < 1:922619/149‑1 (MQ=255) gtGCCGATACCA‑‑CCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAAGCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGc < 2:139623/148‑1 (MQ=255) || CGGAACAGATTTCCACGATGCACGGCGACCGCCATCGCCACGAAGAAGCCGATGGTGGCAAGATCGCCAAACGGCAGCACCTGATTACCCGGCACACAAACAGCAATTAAAATGGTGAGTGGGATAAAAATCAGGCTTGCCGATACCACCCCGCCGTATGTCCCAGCAGCAACGCCGGATCAAGGCCAATCAGGAACTCCTGACCGCCGAACTTCGCCTGTAAACGACTACGAGCCTGCTTAGCGATGGGCGTTAAACCATCCATGATGGGTTTAATCACCCGTGGC > NC_000913_3_hsa_pgi/2173213‑2173499 |
| 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: ‑ |