Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,679,525	G→T	A1074D (GCT→GAT)	yphG ←	DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,679,525	0	G	T	100.0%	130.1 / NA	41	A1074D (GCT→GAT)	yphG	DUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (18/23);  total (18/23)

GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAG  >  NC_000913_3_hsa_tpiA/2679381‑2679666                                                                                                                                                 |                                                                                                                                              gggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCgg                                                                                                                                           <  1:624494/149‑1 (MQ=255)        tattaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATc                                                                                                                                    <  1:999795/149‑1 (MQ=255)             acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt                                                                                                                               >  1:623713/1‑149 (MQ=255)             acaacGGCTTATTCTAATTATTTTGTGAAAAATAGCAGCTCATGTCGCTAAAATATTACAGTTAATAGTGTTTAATGAAAGCGGGTAAAAATAAAAGGCATCCCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt                                                                                                                               <  2:712915/149‑1 (MQ=255)              caacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTc                                                                                                                              >  1:52247/1‑149 (MQ=255)                acGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa                                                                                                                            <  1:433046/149‑1 (MQ=255)                                 tttagcgatgaGCGGCAGCGCGGGCCGCTCAAATTTTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACt                                                                                                           <  1:960756/143‑1 (MQ=255)                                  tttGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTc                                                                                                          >  1:317645/1‑149 (MQ=255)                                       gatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATAtt                                                                                                     >  1:888057/1‑149 (MQ=255)                                          gatcGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcg                                                                                                  >  2:960137/4‑149 (MQ=255)                                           aGCGGCAGCGCGTGCCGCTCAAATATTTCAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAACAGCATCGCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGCCAGTTCGGCGCGCGCAGACTCATATTgcgc                                                                                                 >  2:965250/1‑149 (MQ=255)                                                cAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCt                                                                                            >  1:195927/1‑149 (MQ=255)                                                         ccGTTCAAAGATTACAGTTAATAGGGTTTAGAGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAGTGCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTc                                                                                   <  2:119469/149‑1 (MQ=255)                                                             tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATGCGGCGCGAGCAGACTCCTATTGCGCAACCTCCCCGAGTCCcgc                                                                               >  1:516578/1‑149 (MQ=255)                                                               aaaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcacgt                                                                             >  2:796360/1‑148 (MQ=255)                                                                    ttACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCCCGGTGGTGACTAATGCCGCTTTCGGCCAATCCGCATTAATAGCCGTCAATGCGGGGCGGGCAGAAGCATATTGCGCAACCTCCCCGAGTCCCGCGGACGcc                                                                        >  1:375564/1‑149 (MQ=255)                                                                         gTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt                                                                   >  2:735466/1‑149 (MQ=255)                                                                           tAAGAGGGTTTAGTGAACGAGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCg                                                                 <  2:6936/149‑1 (MQ=255)                                                                              tAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGcca                                                              <  2:317645/149‑1 (MQ=255)                                                                               aGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccac                                                             <  1:929655/149‑1 (MQ=255)                                                                                  gTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCAt                                                          >  2:963874/1‑149 (MQ=255)                                                                                    ttAGTGAACGCGGTTACAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATACGGATTAATCGTCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCa                                                        <  2:894062/149‑1 (MQ=255)                                                                                    ttAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATACTGCCGCTTTCGGCCAATCCGGATTAATCGCCTTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCa                                                        <  1:602441/149‑1 (MQ=255)                                                                                       gTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAt                                                                                                                           <  1:761525/79‑1 (MQ=255)                                                                                       gTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAt                                                                                                                           >  2:761525/1‑79 (MQ=255)                                                                                           aCGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                         <  2:725271/109‑1 (MQ=255)                                                                                           aCGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                         >  1:725271/1‑109 (MQ=255)                                                                                              cgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTTGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTc                                              <  1:787777/149‑1 (MQ=255)                                                                                               ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt                                             <  1:960137/149‑1 (MQ=255)                                                                                                       aTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgctg                                     <  2:712587/149‑1 (MQ=255)                                                                                                          aaaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGctgctg                                  <  1:735466/149‑1 (MQ=255)                                                                                                            aggattCACGGTGGTGAATAATGTCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt                                <  2:598073/144‑1 (MQ=255)                                                                                                                aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTc                                              >  2:296169/1‑131 (MQ=255)                                                                                                                aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTc                                              <  1:296169/131‑1 (MQ=255)                                                                                                                     ggtggtGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGc                       <  2:75286/149‑1 (MQ=255)                                                                                                                     ggtggtGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGc                       <  2:75303/149‑1 (MQ=255)                                                                                                                                  gCCGCTTTCGGCCAATCGGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCGGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaa          <  2:194539/149‑1 (MQ=255)                                                                                                                                   ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaac         >  2:626200/1‑149 (MQ=255)                                                                                                                                   ccGCTTTCGACCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCCGTGGTAAATCGCCATACAGCGacaac         >  2:737597/1‑149 (MQ=255)                                                                                                                                     gCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGAcaacaa       >  2:92725/1‑149 (MQ=255)                                                                                                                                          cGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCACCCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATAAGGAATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAg  <  1:724105/149‑1 (MQ=255)                                                                                                                                                 |                                                                                                                                              GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAG  >  NC_000913_3_hsa_tpiA/2679381‑2679666

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: ‑