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%	153.3 / NA	46	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 (23/23);  total (23/23)

GGATCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCAGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGC  >  NC_000913_3_hsa_tpiA/746327‑746605                                                                                                                                             |                                                                                                                                           ggATCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttgggt                                                                                                                                    <  2:62851/149‑1 (MQ=255)       gAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTg                                                                                                                              <  1:412643/149‑1 (MQ=255)       gAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGACGATTGGGTTGACTg                                                                                                                              >  1:199910/1‑149 (MQ=255)                 ccGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCCGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGGTGCGTTGACTGGAAATCGTaa                                                                                                                    >  2:335305/1‑149 (MQ=255)                 ccGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttg                                                                                                                                       >  2:418837/1‑130 (MQ=255)                 ccGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttg                                                                                                                                       <  1:418837/130‑1 (MQ=255)                  cGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATaaa                                                                                                                   <  1:628000/149‑1 (MQ=255)                  cGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGCATGTTCGACTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATaaa                                                                                                                   <  1:736121/149‑1 (MQ=255)                        tgttgAAAGAACGATTATTGTCTCCGCGCTTTCGGAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCGTGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGaaa                                                                                                             <  1:503664/146‑1 (MQ=255)                          gtgAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCa                                                                                                                       >  2:403024/1‑137 (MQ=255)                          gtgAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCa                                                                                                                       <  1:403024/137‑1 (MQ=255)                          gtgAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGa                                                                                                           >  1:498707/1‑149 (MQ=255)                           ggAAAGAACGAGTATTGTCGCCGCGGTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGAt                                                                                                          <  2:5578/148‑1 (MQ=255)                                    gATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATgcg                                                                                                 >  1:598704/1‑149 (MQ=255)                                               ccgcGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGa                                                                                      >  1:415551/1‑149 (MQ=255)                                               ccgcGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACAGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGa                                                                                      >  2:473203/1‑149 (MQ=255)                                                    cTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCAc                                                                                 >  2:652713/1‑149 (MQ=255)                                                      ttCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGTTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTc                                                                               <  2:675852/149‑1 (MQ=255)                                                      ttCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTc                                                                               <  1:386014/149‑1 (MQ=255)                                                               gTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCCCAcgcg                                                                      >  1:73806/1‑149 (MQ=255)                                                                tCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGt                                                                     <  1:215952/149‑1 (MQ=255)                                                                     tgggtGGATTACTGCGCGATCAGGCGTTGCTGGCTGGGCTTGGGAATTATTTGCGGGTGGAGAGCCTCTGGCCGGTTGGGTTGGCTGGAAAGCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTg                                                                <  2:701231/145‑1 (MQ=255)                                                                       gCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACCCGTTACTGga                                                              >  2:543383/1‑149 (MQ=255)                                                                         tGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGgaga                                                            >  2:531955/1‑149 (MQ=255)                                                                         tGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGAGCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCCAAGGATCTCAATGCGGCGCAACTGGATGCAGCCGCCCACGCGTTACTGgagc                                                            >  2:436097/1‑148 (MQ=255)                                                                          cgATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGAt                                                           <  1:345988/148‑1 (MQ=255)                                                                           gATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGCtt                                                          >  2:122329/1‑149 (MQ=255)                                                                                   cTCGACCAGGCGTTTCGGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGAtt                                                  <  1:134476/149‑1 (MQ=255)                                                                                      gATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTc                                               >  1:438989/1‑149 (MQ=255)                                                                                         cAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTg                                                                <  2:133050/129‑1 (MQ=255)                                                                                         cAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGGTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTg                                                                >  1:133050/1‑129 (MQ=255)                                                                                          aGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCctac                                           >  1:633960/1‑149 (MQ=255)                                                                                                    ggctggGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCggg                                 <  1:562680/149‑1 (MQ=255)                                                                                                      gtggGCGTGGCAATTATTTACGGGTTGAGGTCCTCTGGCCGGTTTGGTTGACTGGAAATCATTAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCggggg                               <  2:667640/148‑1 (MQ=255)                                                                                                           cTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCTCTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGt                          <  2:22593/149‑1 (MQ=255)                                                                                                           cTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGt                          <  2:498707/149‑1 (MQ=255)                                                                                                            ttGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGga                                                              <  1:744713/112‑1 (MQ=255)                                                                                                            ttGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGga                                                              >  2:744713/1‑112 (MQ=255)                                                                                                                   ttattTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTGTCCTACGCTACGCGGGGGCAGGTGGATgaga                  <  2:46536/149‑1 (MQ=255)                                                                                                                    tattTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATGTTCCTACGCTACGCGGGGGCAGGTGGATGAGaa                 >  1:641916/1‑149 (MQ=255)                                                                                                                      tttGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATa               >  1:457610/1‑149 (MQ=255)                                                                                                                           gggTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGcat          >  1:591549/1‑149 (MQ=255)                                                                                                                                gagaTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTGCGCGGGGGCAGGt                          >  1:417335/1‑128 (MQ=255)                                                                                                                                gagaTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTGCGCGGGGGCAGGt                          <  2:417335/128‑1 (MQ=255)                                                                                                                                 agaTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGTTGAGAATAAGCATCATggg    <  2:633960/149‑1 (MQ=255)                                                                                                                                   aTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCAACGCTACGCAGGGGCAGGTGGATGAGAATAAGCATCATGGGgc  >  1:413193/1‑149 (MQ=255)                                                                                                                                             |                                                                                                                                           GGATCCGAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCAGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGC  >  NC_000913_3_hsa_tpiA/746327‑746605

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: ‑