Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	746,467	A→C	Q178P (CAG→CCG)	nei →	endonuclease VIII and 5‑formyluracil/5‑hydroxymethyluracil DNA glycosylase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	746,467	0	A	C	100.0%	137.1 / NA	42	Q178P (CAG→CCG)	nei	endonuclease VIII and 5‑formyluracil/5‑hydroxymethyluracil DNA glycosylase
Reads supporting (aligned to +/- strand):  ref base A (0/0);  new base C (23/19);  total (23/19)

GATCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCAGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGCGCTG  >  NC_000913_3_hsa_tpiA/746328‑746609                                                                                                                                            |                                                                                                                                               gATCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGATGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCTTCTGGCCggttgggtt                                                                                                                                       >  2:317831/1‑149 (MQ=255)   tCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGa                                                                                                                                     <  1:205519/149‑1 (MQ=255)   tCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGa                                                                                                                                     >  2:232497/1‑149 (MQ=255)    ccGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGAc                                                                                                                                    <  1:102116/149‑1 (MQ=255)       aaTCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTgg                                                                                                                                 >  1:422747/1‑149 (MQ=255)            gatgCCGGAGGTGGTGAAAGCACGATTATTTTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATc                                                                                                                            <  1:186706/146‑1 (MQ=255)                ccGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATaa                                                                                                                        <  2:422747/149‑1 (MQ=255)                          tgAAAGAACGATTATTGTCGCCGCCCTTTAGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGAt                                                                                                              >  2:431821/1‑149 (MQ=255)                           gatggtaCGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGCCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCCAAAGTtc                                                                                                             >  2:311282/7‑149 (MQ=255)                            aaaGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCGTAAAGCGAAAGctct                                                                                                            >  1:98869/1‑149 (MQ=255)                              aGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttg                                                                                                                                           <  1:534943/116‑1 (MQ=255)                              aGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttg                                                                                                                                           >  2:534943/1‑116 (MQ=255)                                 aCGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAAta                                                                                                       <  2:492863/149‑2 (MQ=255)                                    attattGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGCTGGCTTTGGCCCATATCATAAAGCGAAAGATCTCAATgcgg                                                                                                    <  1:592795/149‑1 (MQ=255)                                       attGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGgcgc                                                                                                 <  1:514545/149‑1 (MQ=255)                                             gccgcGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTgg                                                                                           >  1:401256/1‑149 (MQ=255)                                                gcgcTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATg                                                                                        >  2:258806/1‑149 (MQ=255)                                                gcgcTTTCGTAACCGTCAGTTTGCTGGAGTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCCACTATTTGGGGGGTGAGTTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATg                                                                                        <  2:515540/149‑1 (MQ=255)                                                         tAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttggg                                                                                                                                         >  2:360812/1‑91 (MQ=255)                                                         tAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttggg                                                                                                                                         <  1:360812/91‑1 (MQ=255)                                                         tAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGACTGGGCTTGGCAATTATTTGGGGGGGGAGGTCCTCTGGCCGGTTGGGTTGACTGGAAATGATAAGGCGAATGATCTCAATGCGGCGCAACTGGATGGACCCGcac                                                                               >  1:19479/1‑149 (MQ=255)                                                                 aGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTa                                                                       <  1:258806/149‑1 (MQ=255)                                                                              aCTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTCTTTGCAGGCGGAAATCCTCTGGCCGGTTGGGTTGACTGGAAATCATCCAGCGAACGAACTCAATTCGGCGCAACTATATGCACTCGCACACACGTTACTGgggagtgctg                                                          >  2:113747/1‑143 (MQ=255)                                                                                           gCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCCACTGGATGCACTCGGACACGCGTTACTGGAGATTCCTCGCTTTTCctacgc                                             >  1:166566/1‑149 (MQ=255)                                                                                                  gggctggGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCgg                                      <  2:58879/148‑1 (MQ=255)                                                                                                    gctggGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCgggg                                    >  1:494459/1‑149 (MQ=255)                                                                                                       gggTTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGGCTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCa                                 <  1:232497/149‑1 (MQ=255)                                                                                                         gCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGGCTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGAtt                                                      >  1:423551/1‑126 (MQ=255)                                                                                                         gCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGAtt                                                      <  2:423551/126‑1 (MQ=255)                                                                                                           ttGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTg                             >  1:172631/1‑149 (MQ=255)                                                                                                            tGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTgg                            <  2:494459/149‑1 (MQ=255)                                                                                                                aaTTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATgc                        >  1:307175/1‑148 (MQ=255)                                                                                                                aaTTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATga                        >  2:436765/1‑149 (MQ=255)                                                                                                                aaTTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATAAACTCGCACCAGAATACGCCTAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATga                        <  1:293985/149‑1 (MQ=255)                                                                                                                  tcactggCGGTTGGAGAGCCGAGGGCCGGTTGGGTAGACCGGCAATCATAAAGCGAAAGATCCCCATGCGGCGCAACCGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATgaga                      <  2:480028/143‑1 (MQ=255)                                                                                                                      ttGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATaa                  <  1:373960/149‑1 (MQ=255)                                                                                                                           ggTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGcatc             >  1:236440/1‑149 (MQ=255)                                                                                                                           ggTGGAGATCCTCTGGCCGGGTGGGTTGCCTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGAAGATTCCTCGGTTTTCCTACGCTACGCGGGGGCAGATGGATGAGACTAAGcatc             >  2:88304/1‑149 (MQ=255)                                                                                                                              ggAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATg          >  1:463642/1‑149 (MQ=255)                                                                                                                               gagaTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATgg         <  2:401256/149‑1 (MQ=255)                                                                                                                                   tCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCCTGGGgcg     >  1:525936/1‑149 (MQ=255)                                                                                                                                      tctGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGCGCTg  >  2:163582/1‑149 (MQ=255)                                                                                                                                            |                                                                                                                                               GATCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCAGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGCGCTG  >  NC_000913_3_hsa_tpiA/746328‑746609

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑