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%	116.7 / NA	36	G263E (GGG→GAG)	ydiB	quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (19/17);  total (19/17)

ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774430‑1774719                                                                                                                                                   |                                                                                                                                                atCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAgagg                                                                                                                                               >  2:485840/1‑149 (MQ=255)       ggTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAAc                                                                                                                                         >  1:575020/1‑149 (MQ=255)           aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                                     <  2:33068/149‑1 (MQ=255)               atatCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                 >  1:311082/1‑149 (MQ=255)                 atCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAtt                                                                                                                               >  2:230049/1‑149 (MQ=255)                   cAGTTTGTTAAATCCTAGAGCTCTGGTCACGGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGGAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                             <  2:48443/149‑1 (MQ=255)                   cAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                             <  2:281689/149‑1 (MQ=255)                   cAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGCGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                             <  2:575020/149‑1 (MQ=255)                                    gACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTc                                                                                                            <  2:366200/149‑1 (MQ=255)                                    gACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTc                                                                                                            <  1:565011/149‑1 (MQ=255)                                     aCTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCCCATTATGGACTGGCAAAGATTTcc                                                                                                           >  2:487333/1‑149 (MQ=255)                                     aCTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTcc                                                                                                           <  1:230049/149‑1 (MQ=255)                                       ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCct                                                                                                         >  1:306738/1‑149 (MQ=255)                                       ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTACAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCct                                                                                                         <  1:542930/149‑1 (MQ=255)                                          gggTCACTGAATGCGTGTAAAACCCGCATATGACGAAGTTAGTGCTGCAGGCGCGACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGTCAAGAGGCTGAACAGTTCACATTATGGATTGGCAAAGATTTCCCTCTg                                                                                                      <  2:494366/148‑1 (MQ=255)                                           ggTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAACACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTgg                                                                                                     >  2:389805/1‑149 (MQ=255)                                                cTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCGGCAGGCGCAACAAGCTGGTTGCAAAACGCTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAAAAGTTCACATTATGGACTGGCAAAGATTTCCCTATGGAgtat                                                                                                >  2:13545/1‑149 (MQ=255)                                                         tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                       >  2:344031/1‑149 (MQ=255)                                                                 ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                               >  2:466798/1‑149 (MQ=255)                                                                        gggcGAAGTTATTTCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCGCAGTATGGGCTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                        <  1:13545/146‑1 (MQ=255)                                                                          aCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGCACCATATGCAGGAGGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                                      >  1:574108/1‑149 (MQ=255)                                                                                  aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                              <  1:466798/149‑1 (MQ=255)                                                                                            gcgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                    >  2:219546/1‑149 (MQ=255)                                                                                               aaagaaGGTGGTTGAAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCa                                                 <  2:114184/145‑1 (MQ=255)                                                                                                     gCTGGTTGCAAAACGATGGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTCGCAAAGATTTCCCGCCGGAATAGGTTAAACAGGTCATGGGGGTCGGTGCCTGACAGGCTGACCACGTGCAGAAggg                                           <  2:545237/149‑1 (MQ=255)                                                                                                      cTGGTTGCAAAACGATTGATGGATACTGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAggg                                          >  2:73112/1‑149 (MQ=255)                                                                                                               aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGACAAAGATTTCCCTCTGGAATAGGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGAAAAAAATg                                 >  1:202539/1‑149 (MQ=255)                                                                                                                aaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                        >  1:65629/1‑61 (MQ=255)                                                                                                                aaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACt                                                                                                                        <  2:65629/61‑1 (MQ=255)                                                                                                                   gactGATGGTTACGGCAGGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATCTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTTCCTGACAGGCTGACCGCCTACAGAAAGGGTAAAAAATGaaaa                             <  2:70398/146‑1 (MQ=255)                                                                                                                    aTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACGTTATGGACTGGAAAAGATTTCCCGCTGGAGTATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAAc                            >  2:359944/1‑149 (MQ=255)                                                                                                                        aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                    >  2:413270/1‑121 (MQ=255)                                                                                                                        aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                    <  1:413270/121‑1 (MQ=255)                                                                                                                        aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTa                        >  1:219561/1‑149 (MQ=255)                                                                                                                         tGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTaa                       <  1:219546/149‑1 (MQ=255)                                                                                                                                    tgttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAt            >  1:241629/1‑149 (MQ=255)                                                                                                                                              gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCAGGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGGAAAAAATGAGAACCGTAACTGTAAAAGATCTCGTCATTg  >  1:230720/1‑149 (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: ‑