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%	130.0 / NA	44	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (17/27);  total (17/27)

ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCA  >  NC_000913_3_hsa_tpiA/1774433‑1774716                                                                                                                                                |                                                                                                                                             aTTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTg                                                                                                                                         >  2:291836/1‑149 (MQ=255)   tGGTTAATGATATCAGTCTGTTACACCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAAAAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                       <  1:575608/149‑1 (MQ=255)     gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTTATGGATACGGCAGGTTGTTGTGTCCAGAGGCTGaaaa                                                                                                                                     >  2:363519/1‑147 (MQ=255)         aTGATATCAGTCTGTTACATCCGGGACTTCTGGCCACTGAATACGTGTATAACCCCCATCTGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGGTGTTGTGGCAAGAGGCTGAACAGTTc                                                                                                                                 >  1:252580/1‑149 (MQ=255)          tGATATCAGTGTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGAACGAGGCTGAACAGTTca                                                                                                                                >  2:349389/1‑149 (MQ=255)          tGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                >  1:420064/1‑149 (MQ=255)          tGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                >  1:377122/1‑149 (MQ=255)            atatCAGACTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                              <  1:21053/149‑1 (MQ=255)                cacgcTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGGGCAACAAGCTGGTTGCAAAACGATTGATGGATACTGCAGGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                          <  1:363519/145‑1 (MQ=255)                 aGTCTGGTACATCCGGGACTTCTGGTCACTGAATGGGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATTGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                         <  1:339309/149‑1 (MQ=255)                     tGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                     <  2:59073/149‑1 (MQ=255)                           atcgcggACGTCTGGGTACTGAATTCGTGTATAACCCGTATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCaaa                                                                                                               <  2:463145/144‑1 (MQ=255)                                         gTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGa                                                                                                 >  1:272933/1‑149 (MQ=255)                                              tGAATTCGTGTATACCCCGCAGTTGACGAAGCTATTGCAGCAGGGGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTGCCAGGGTTGACTTGCAAAGATTTCCCTCTGGAATATg                                                                                            <  2:159499/149‑1 (MQ=255)                                              tGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                            >  2:562727/1‑149 (MQ=255)                                                aaTGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGtt                                                                                          <  2:377122/149‑1 (MQ=255)                                                    cGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc                                                                                      >  1:224617/1‑149 (MQ=255)                                                            aCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                              >  2:471531/1‑149 (MQ=255)                                                             cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                             <  2:502211/149‑1 (MQ=255)                                                              ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                            >  2:619704/1‑149 (MQ=255)                                                                     tggcGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                     <  1:367666/146‑1 (MQ=255)                                                                     tGACGAAGTTATTGCAGGAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                     <  2:96155/149‑1 (MQ=255)                                                                     tGACGAAGGTATTGCAGCAGGCGCAACAAGCTAGGTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                     <  1:467272/149‑1 (MQ=255)                                                                      gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATCCGGCCTGACATGGTGTCAAAAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATACGTTAAACAGGTCATGGGGTTCGGTg                                                                    >  1:717026/1‑149 (MQ=255)                                                                        cGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGcc                                                                  <  2:293085/149‑1 (MQ=255)                                                                             ttATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACa                                                             <  1:297387/149‑1 (MQ=255)                                                                             ttATTGAAGCAGGCGCAATAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACa                                                             <  2:195378/149‑1 (MQ=255)                                                                             ttAGTGCAGCAGGGGCAACAAGCTGGTGGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAATATGGACTGGCAAAGATTGCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACa                                                             <  1:390524/149‑1 (MQ=255)                                                                               aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGGCTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                           <  1:291836/149‑1 (MQ=255)                                                                                                gaGCTGGGTGCAAAATGATTGATGGATACGGGATGTTGTGGTGGCAAGAGGCTGAACAGTTTACATGATGGACTGGCATAGTTTTCCCTCTGGAAGATGTTACACTTTTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                          <  2:157022/148‑1 (MQ=255)                                                                                                 aGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCCACGCTGGCCGGCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAg                                         <  1:140499/149‑1 (MQ=255)                                                                                                  gCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAgg                                        <  2:224617/149‑1 (MQ=255)                                                                                                   cTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCACAAAggg                                       >  1:11236/1‑149 (MQ=255)                                                                                                    tGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                              <  1:248291/109‑1 (MQ=255)                                                                                                    tGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                              >  2:248291/1‑109 (MQ=255)                                                                                                       ttGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTCAAACAGGTCATGGGGTTCGGCGCCTGACAGGCTGACCGCGTGCAGGAAGGGTaaa                                   >  1:650039/1‑149 (MQ=255)                                                                                                          gaaaaCGAGTGAGTGATACGGCATGTTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaaaa                                <  1:98590/148‑1 (MQ=255)                                                                                                               cGATGGATGGATAGGGCAGGGTGTTGTGGGAAGAGGCTGAACAGTTCACATTCTGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGGGTGCGGAAAGGGTAAAAAATGaaa                           <  2:252580/149‑1 (MQ=255)                                                                                                                gATTGATGGATACGGTATGTTGTTGTGGGAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAGTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                          <  2:272034/149‑1 (MQ=255)                                                                                                                gATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                          <  2:272933/149‑1 (MQ=255)                                                                                                                 aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAAc                         <  2:488002/149‑1 (MQ=255)                                                                                                                      tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa                    <  1:619704/149‑1 (MQ=255)                                                                                                                            cGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaa              >  2:652316/1‑149 (MQ=255)                                                                                                                                        gtgGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCa  >  2:707641/1‑149 (MQ=255)                                                                                                                                                |                                                                                                                                             ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCA  >  NC_000913_3_hsa_tpiA/1774433‑1774716

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: ‑