Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,817,170	C→A	E112* (GAA→TAA)	yqaB ←	fructose‑1‑P and 6‑phosphogluconate phosphatase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,817,170	0	C	A	100.0%	140.7 / NA	44	E112* (GAA→TAA)	yqaB	fructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (16/28);  total (16/28)

TTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCC  >  NC_000913_3_hsa_tpiA/2817030‑2817315                                                                                                                                             |                                                                                                                                                  ttGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCg                                                                                                                                           <  1:451830/149‑1 (MQ=255)   gCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATAGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGtt                                                                                                                                         <  1:418510/149‑1 (MQ=255)    aacgggcATACGGCGCGCGCCCAACCACAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGGCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTc                                                                                                                                        <  1:400178/143‑1 (MQ=255)         ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                                   <  2:805924/149‑1 (MQ=255)                cTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGGAGCGACGACGGCGTGAAAATAGTGGCGTAATCCCAGATGCGCCGGCGATGGCTAAGCGATGGCGCATTAACGCCACGTTCCTACAGCCATTg                                                                                                                            >  2:75822/1‑149 (MQ=255)                   cgcccACAACAAAAATTTGTCTGGCGCGGGTTTATGGTGTTTGACTTGATCGGCAGCGACGGCGGCGTCAAAAGAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGc                                                                                                                         <  1:802297/149‑1 (MQ=255)                        acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga                                                                                                                    >  2:253128/1‑149 (MQ=255)                         caacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac                                                                                                                   <  2:70499/149‑1 (MQ=255)                          aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc                                                                                                                  >  2:518597/1‑149 (MQ=255)                            caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt                                                                                                                <  1:404261/149‑1 (MQ=255)                            caaAAATGTGTCTGGCGCGGGTTTATGGTGGTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGTCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTATAGCCATTGGGCGACGACCAt                                                                                                                <  2:416412/149‑1 (MQ=255)                             aaaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATg                                                                                                               >  2:663109/1‑149 (MQ=255)                              aaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGAGCGACAACAATGc                                                                                                              >  1:310837/1‑149 (MQ=255)                                      tCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACtttt                                                                                                      >  2:454655/1‑149 (MQ=255)                                       cTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCACCCATCGCTGAGCCATTGGGCGACGACCATGCCAACTTTTc                                                                                                     <  1:626726/149‑1 (MQ=255)                                         ggCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcac                                                                                                   <  2:55598/149‑1 (MQ=255)                                                   tATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaa                                                                                           <  2:660379/147‑1 (MQ=255)                                                   tATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaa                                                                                           >  1:660379/1‑147 (MQ=255)                                                      ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAAAAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga                                                                                      >  2:740207/1‑149 (MQ=255)                                                       gtgtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGGCGATGCCCAATTTTCACCACATCAACAagag                                                                                     >  1:192275/1‑149 (MQ=255)                                                                gTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGtt                                                                            >  1:598046/1‑149 (MQ=255)                                                                 tGATCGGGAGCGACTACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTc                                                                           <  1:308261/149‑1 (MQ=255)                                                                 tGATCGGCAGCGACGACGGCGGCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTAAAGCCATTAGACCACCACCATCCCAACTTTTCTCCTTATCAACAAGATGAAGCGTTTc                                                                           <  2:202800/149‑1 (MQ=255)                                                                     cGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGTTGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACg                                                                       <  2:745064/149‑1 (MQ=255)                                                                             acgacgGCGTCAAAATATTGGCGGAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTATCTCCTCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTCTCACCACATCAACAAGGGGAAGCGGTTCGACGCTATCcag                                                               <  2:303376/149‑1 (MQ=255)                                                                              cgacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCGTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCAAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagc                                                              <  2:473661/149‑1 (MQ=255)                                                                                             aatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACTACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACt                                               <  1:454655/149‑1 (MQ=255)                                                                                               tGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGc                                             <  1:604396/149‑1 (MQ=255)                                                                                                     aaTCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCAATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGt                                       <  2:775416/149‑1 (MQ=255)                                                                                                         ccAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCAACAACCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttttt                                   <  1:160810/149‑1 (MQ=255)                                                                                                          cAGGTGCGCCAGCAATGCCCCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGTAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttttt                                  <  1:253128/149‑1 (MQ=255)                                                                                                           aGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCCACAAGGGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc                                 <  1:663109/149‑1 (MQ=255)                                                                                                                 gcCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACgcgc                           >  2:733091/1‑149 (MQ=255)                                                                                                                    aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                                   <  1:651075/42‑1 (MQ=255)                                                                                                                    aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                                   >  2:651075/1‑42 (MQ=255)                                                                                                                    aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTCTTGCTTCTGTTTTTTCATGCGCtta                        >  1:187183/1‑147 (MQ=255)                                                                                                                           ccTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCCGTTTTTTCACGCGCTAACGCATGc                 <  1:518597/149‑1 (MQ=255)                                                                                                                             tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg                                                                                                                          >  2:448026/1‑42 (MQ=255)                                                                                                                             tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg                                                                                                                          <  1:448026/42‑1 (MQ=255)                                                                                                                                    tGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCgaga        >  2:192181/1‑149 (MQ=255)                                                                                                                                       cgcTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCg     <  1:352077/149‑1 (MQ=255)                                                                                                                                        gcTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCgg    >  1:297386/1‑149 (MQ=255)                                                                                                                                         cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc   <  2:628767/149‑1 (MQ=255)                                                                                                                                          tttAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGcc  <  2:297386/149‑1 (MQ=255)                                                                                                                                             |                                                                                                                                                  TTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCC  >  NC_000913_3_hsa_tpiA/2817030‑2817315

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: ‑