Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,482 | G→T | intergenic (+797/+115) | cdh → / ← yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,111,482 | 0 | G | T | 97.4% | 111.8 / NA | 38 | intergenic (+797/+115) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/1); new base T (16/21); total (16/22) | |||||||||||
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 |
GAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGA > NC_000913_3_hsa_tpiA/4111337‑4111620 | gAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTgcg < 2:129675/149‑1 (MQ=255) gAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTgc < 2:284875/148‑1 (MQ=255) gAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTgc > 1:284875/1‑148 (MQ=255) gggggAGCACAAACCACCCCCGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGc < 2:241762/149‑1 (MQ=255) gAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTtat > 1:122745/1‑149 (MQ=255) acaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGc < 1:157419/149‑1 (MQ=255) accaccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAGGAACTTCCTGGAGTGCGCCGTTTTAATTCTCCACGCTTATAAGCgcag > 1:1194/1‑146 (MQ=255) ccaccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCCTTTTAATTCTCCACCCTTATAACCGAATa > 2:552594/1‑149 (MQ=255) caccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGATTaa > 2:293496/1‑149 (MQ=255) tCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGa < 2:122745/149‑1 (MQ=255) ggTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAg < 2:34448/149‑1 (MQ=255) gtCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCAACTGCGGCACATGCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGCAGATg > 1:293200/1‑149 (MQ=255) ggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGccc < 1:197032/149‑1 (MQ=255) aCCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGc > 2:37510/1‑149 (MQ=255) cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg < 1:318695/149‑1 (MQ=255) tGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCGTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg < 2:241784/149‑1 (MQ=255) tGGCCGCGTTCAGAGAGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAGTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg < 1:316224/149‑1 (MQ=255) gTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATg < 1:141310/128‑1 (MQ=255) gTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATg > 2:141310/1‑128 (MQ=255) caaTGAGCGCCCCCAGACTCTGCCTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACa < 1:247347/147‑1 (MQ=255) cGATGAGCCCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACa < 1:122912/149‑1 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATagag > 2:423774/1‑149 (MQ=255) cccccACACTCCTCTTCCCCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAgaga < 1:136634/149‑1 (MQ=255) ctctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCgg < 1:252077/149‑1 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGCCCGCCCCGCAGGGCAGCAGGTCTGTGAAACCGTATAGAGATTCATCGGc > 2:146223/1‑149 (MQ=255) gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCTCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgct > 1:540431/1‑149 (MQ=255) ccGGTCATCTTCCAGTTCCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgcttt < 2:296716/149‑1 (MQ=255) cggtCATCCTCCAGCTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCCTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg < 1:73638/146‑1 (MQ=255) cGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg < 1:37510/149‑1 (MQ=255) tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGAAAGCCCAACCACAAGGCAGCAGGTCTGTGAAAAAGTATAGAGATTCATCGGCCCGAAGGCTTTGCttttt > 1:293714/1‑149 (MQ=255) tCTTCCAGTTACCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 1:589109/149‑1 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGt > 1:525267/1‑149 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGt > 2:320765/1‑149 (MQ=255) gaagaaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTc < 2:319191/149‑1 (MQ=255) gaagaaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTc > 1:266775/1‑149 (MQ=255) aaCTTCCTGGAGTTCGCCATTTTAATTCTCCACGCTGATACGCGAATAAAGGAAGATGGCCTGCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTTTCATTTATTCAAACCTTCAAGc < 2:198579/149‑1 (MQ=255) aaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGc > 1:433423/1‑149 (MQ=255) tttgcTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGGTTGTGAAACAGTATAGAGATTTATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa < 2:159431/145‑1 (MQ=255) | GAAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGA > NC_000913_3_hsa_tpiA/4111337‑4111620 |
Alignment Legend |
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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: ‑ |