Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,774,576	G→A	G263E (GGG→GAG)	ydiB →	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,774,576	0	G	A	100.0%	171.1 / NA	54	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (29/25);  total (29/25)

ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774430‑1774719                                                                                                                                                   |                                                                                                                                                atCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAgagg                                                                                                                                               <  1:422468/149‑1 (MQ=255)        gTTAATGATATCAGTCTGTTACATCCGGGCATTCTCGGCACCTAATGCGTGTATAACCCGCATACGACGAAGTTATTCCAGCAGGCGCAACAAGCTCGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTCGCAACAGGCTGAACa                                                                                                                                        <  2:229454/149‑1 (MQ=255)        gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACa                                                                                                                                        >  1:189650/1‑149 (MQ=255)         ttAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAg                                                                                                                                       >  2:123315/1‑149 (MQ=255)          tAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGt                                                                                                                                      <  1:98696/149‑1 (MQ=255)           aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                                     <  2:270714/149‑1 (MQ=255)               atatCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGAAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                 <  1:132703/149‑1 (MQ=255)                   cAGTGTGTTAGTTCCGGGACTTGCGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                             <  2:499604/149‑1 (MQ=255)                   cAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                             <  1:397048/149‑1 (MQ=255)                    aGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                            >  1:67737/1‑149 (MQ=255)                            aCATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCa                                                                                                                    >  1:674866/1‑149 (MQ=255)                             cATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCaa                                                                                                                   >  1:409362/1‑149 (MQ=255)                              aTCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTAACATTATGGACTGGCaaa                                                                                                                  >  1:21311/1‑149 (MQ=255)                                  gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAtt                                                                                                              >  1:340490/1‑149 (MQ=255)                                        tCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctc                                                                                                        <  2:467752/149‑1 (MQ=255)                                               aCTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGGAAGAGGCTGAACAGTTCACATTATGGACTGGCACAGATTTCCCTCTGGCata                                                                                                 >  2:67380/1‑149 (MQ=255)                                                   aaTGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGtt                                                                                             <  1:589853/149‑1 (MQ=255)                                                      gCGTGTATAACCCGCATCTGACGAAATTATTGCATCAGGCGCAACAATCTTGTTGCAAAACGGTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTcaa                                                                                          >  2:233512/1‑149 (MQ=255)                                                        gtgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACAATTGATGGATACGGAATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGTCAAAGATTTCCCTTTGGATTATGTTAAACa                                                                                        >  2:664695/1‑149 (MQ=255)                                                         tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                       >  2:198544/1‑149 (MQ=255)                                                            ataACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTc                                                                                    >  1:226145/1‑149 (MQ=255)                                                                cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                >  1:383987/1‑149 (MQ=255)                                                                cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                <  2:135476/149‑1 (MQ=255)                                                                 ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctc                                                                                                        <  1:338166/124‑1 (MQ=255)                                                                 ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctc                                                                                                        >  2:338166/1‑124 (MQ=255)                                                                 ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                               >  1:512364/1‑149 (MQ=255)                                                                 ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                               >  2:344621/1‑149 (MQ=255)                                                                      tatGACGAAGTTATTGCAGCAGGCGCAACAAGCCGGGGGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCg                                                                          <  1:527029/149‑1 (MQ=255)                                                                            gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                        <  2:324673/97‑1 (MQ=255)                                                                            gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                        >  1:324673/1‑97 (MQ=255)                                                                            gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                    <  2:674866/149‑1 (MQ=255)                                                                                      cagcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGa                                                          <  2:8272/149‑1 (MQ=255)                                                                                      cagcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGa                                                          <  1:360086/149‑1 (MQ=255)                                                                                        gcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGAcc                                                        >  1:187451/1‑149 (MQ=255)                                                                                        gcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGGTCGCTGCCTGACAGACTGAcc                                                        >  2:80126/1‑149 (MQ=255)                                                                                              gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAAAAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTGATGGGGTTCGGTGCCTGACAGGGTGACGGCGTGc                                                  >  1:130864/1‑149 (MQ=255)                                                                                                         gTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGATCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGGTAAACAGGTCATGGGGTTCGGTGCGTGACAGGCTGAGCGCGTGCAGAAAGGTTac                                       >  1:162141/1‑148 (MQ=255)                                                                                                                   gATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCCGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                             <  1:265071/149‑1 (MQ=255)                                                                                                                         tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa                       >  1:585458/1‑149 (MQ=255)                                                                                                                         tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa                       <  2:226145/149‑1 (MQ=255)                                                                                                                           gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             <  2:25399/125‑1 (MQ=255)                                                                                                                           gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             >  1:25399/1‑125 (MQ=255)                                                                                                                           gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCgctact                     >  2:676863/1‑144 (MQ=255)                                                                                                                                ggCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaa                >  1:195532/1‑149 (MQ=255)                                                                                                                                 gCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa               <  1:344621/149‑1 (MQ=255)                                                                                                                                      ttgttgtGGCAAGAGGCTGAACAGTTCACCTTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAACTGAAAACCGTAACTGTAAAAGAtct          >  2:78120/1‑149 (MQ=255)                                                                                                                                      ttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAGAACGGTAACTGTAAAAGAtct          >  1:254036/1‑149 (MQ=255)                                                                                                                                      ttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct          <  2:187451/149‑1 (MQ=255)                                                                                                                                      gtgtggtGGCAAGAGGCTAAACATGTCACATTATCGACTGGCAACCATTTCCCTCTGGAATATGTGAAACAGGTGATGGGGTTCGTTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct          <  2:279682/148‑1 (MQ=255)                                                                                                                                       tgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc         <  1:288268/149‑1 (MQ=255)                                                                                                                                       tggtgtgGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc         <  2:189650/146‑1 (MQ=255)                                                                                                                                        gttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAAGCGTAACTGTAAAAGATCTCg        >  2:300656/1‑149 (MQ=255)                                                                                                                                             ggCAAGAGGCTGAATATTTCACATTATGTACTGGTAAAGATTTTCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGTTGCCTGACAGGCTGACCGCGTTCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCAtt   <  1:183264/149‑1 (MQ=255)                                                                                                                                              gaaaGAGGCTGAACAGTACACAAAATGGACTGGCGAAGATTTCCCTCTGGACTATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGGCCGCGTGCAGAAAGGGTAAAAAATGAAACCCGTAACATTAAAAGATTTCCCCAtta  >  2:129611/3‑148 (MQ=255)                                                                                                                                              gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg  <  1:200893/149‑1 (MQ=255)                                                                                                                                                   |                                                                                                                                                ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774430‑1774719

Alignment Legend
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: ‑