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%	177.5 / NA	55	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (23/32);  total (23/32)

TCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774431‑1774721                                                                                                                                                  |                                                                                                                                                  tCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGc                                                                                                                                                >  2:222548/1‑149 (MQ=255)           aTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGCTACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTc                                                                                                                                      >  1:147048/1‑149 (MQ=255)                   aGTCTGTTTGATCCGGGACGGCTGGTCACGGAATGCGTGTATAACCCGGATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                              <  2:500935/149‑1 (MQ=255)                     tCTGTTACCTCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa                                                                                                                            <  2:451144/149‑1 (MQ=255)                     tCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa                                                                                                                            >  2:1008408/1‑149 (MQ=255)                         ttACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTgg                                                                                                                        >  2:749872/1‑149 (MQ=255)                               ccGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                                  >  1:378022/1‑149 (MQ=255)                                  ggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                               <  1:222548/149‑1 (MQ=255)                                   gACTTCTGGTCATTGAACGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTc                                                                                                              <  2:517162/149‑1 (MQ=255)                                    aCTGCTGGTCACTGAAGGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTcc                                                                                                             <  2:342166/149‑1 (MQ=255)                                     cTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTccc                                                                                                            >  1:961337/1‑149 (MQ=255)                                     cTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGATTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTccc                                                                                                            >  2:894467/1‑149 (MQ=255)                                        cTGGTCACTTAATGCGTGGATAACCTGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctct                                                                                                         <  2:600043/149‑1 (MQ=255)                                        cTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGCTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctct                                                                                                         <  2:976928/149‑1 (MQ=255)                                         tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTg                                                                                                        <  2:478123/149‑1 (MQ=255)                                            tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                   >  2:195210/1‑119 (MQ=255)                                            tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                   <  1:195210/119‑1 (MQ=255)                                            tCACTGAATGCGTGTATAAACCGTTTAGGACTAGGTTCTTGAAGTGTTTTTTAGAAGCTGGTTGCAAAATGATTGAGGTATACTGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa                                                                                                     <  1:1014029/149‑1 (MQ=255)                                             cACTGAATTCGTGTATTACCCGCAAAGGAAGAAGTTTTTGGAGGAGGCTCAACAAGCTCTTTGCAAAACGATTTATGTATACGGCATGTGGTTTTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAat                                                                                                    <  2:760739/149‑1 (MQ=255)                                              aCTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGGTCACATTATGGACTGGCAAAGATTTCCCTCTGGAata                                                                                                   >  2:392064/1‑149 (MQ=255)                                               cTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAatat                                                                                                  <  1:395367/149‑1 (MQ=255)                                                tGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                                 <  1:152550/149‑1 (MQ=255)                                                 gAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGt                                                                                                <  1:1008408/149‑1 (MQ=255)                                                        tgtAGAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         <  2:928482/149‑1 (MQ=255)                                                              aCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                                   <  1:147922/149‑1 (MQ=255)                                                                ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGTAATATGTTACACCGGTcctagc                                                                                 >  2:456552/1‑144 (MQ=255)                                                                       tGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGATGTTGTGGCAAGAGGc                                                                                                                                                <  1:906215/79‑1 (MQ=255)                                                                       tGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATCTTGTTGTGGCAAGAGGc                                                                                                                                                >  2:906215/1‑79 (MQ=255)                                                                        gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTg                                                                         <  1:186855/149‑1 (MQ=255)                                                                        gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTg                                                                         <  1:191175/149‑1 (MQ=255)                                                                         aCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                                        <  1:749872/149‑1 (MQ=255)                                                                         aCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                                        <  2:883878/149‑1 (MQ=255)                                                                           gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                      >  1:815355/1‑149 (MQ=255)                                                                              gTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAc                                                                   <  2:378022/149‑1 (MQ=255)                                                                                   tGCAGGAGGCGGCACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCt                                                              <  2:99618/149‑1 (MQ=255)                                                                                             gcAACAAGCTGGTTGCAAAACGATTAATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACAGCGTGc                                                    >  1:358460/1‑149 (MQ=255)                                                                                               aacaaGCTGGTTGCAAAACGATTGGTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCa                                                   >  2:397922/1‑148 (MQ=255)                                                                                               aacaaGCTGGTTGCAAAACGATTGGTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCa                                                   <  1:397922/148‑1 (MQ=255)                                                                                                            gaaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTATACTGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaaaa                                     <  1:90191/148‑1 (MQ=255)                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAAGCTGAACAGTTTACATTATGGACTGGCAAAGATTTCCCTCTGGAATACGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAACAAAt                                    >  1:879505/1‑149 (MQ=255)                                                                                                              aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCgg                                                                           <  2:983470/109‑1 (MQ=255)                                                                                                              aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCgg                                                                           >  1:983470/1‑109 (MQ=255)                                                                                                               aaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                          <  2:202373/61‑1 (MQ=255)                                                                                                               aaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                          >  1:202373/1‑61 (MQ=255)                                                                                                               aaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGGAAAAAATGa                                  >  1:112795/1‑149 (MQ=255)                                                                                                                  gATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                               >  1:20014/1‑149 (MQ=255)                                                                                                                      gATGGCTACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         <  1:478515/87‑1 (MQ=255)                                                                                                                      gATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         >  2:478515/1‑87 (MQ=255)                                                                                                                       aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCACAGATTTCCCTCTGGACTATGTTAAACAGGTCATGGGGTTCGGAGCCTGACAGGCTGACCGCGTGCACAAAGGGCCGAAAATCAAAACCGtc                          >  2:880878/1‑148 (MQ=255)                                                                                                                       aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTa                          >  1:480888/1‑149 (MQ=255)                                                                                                                                    gttgttgtGGAAAGAGGCTTAACAGTTTACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtc             <  2:943490/149‑1 (MQ=255)                                                                                                                                      tgttgtGGCAAGAGGCTGAACAGTTCATATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc           <  2:708770/149‑1 (MQ=255)                                                                                                                                            ggCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCAtt     <  2:480888/149‑1 (MQ=255)                                                                                                                                             gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg    >  1:488617/1‑149 (MQ=255)                                                                                                                                               aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGt  <  1:934833/149‑1 (MQ=255)                                                                                                                                                  |                                                                                                                                                  TCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774431‑1774721

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: ‑