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%	171.9 / NA	52	A1074D (GCT→GAT)	yphG	DUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (30/22);  total (30/22)

GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG  >  NC_000913_3_hsa_tpiA/2679381‑2679667                                                                                                                                                  |                                                                                                                                               ggtttcttaataAAAACGGCTTATTCAAACTATTTTGTGATGAGCGGCAGCGCGCGCCGCTCAAATATTACACTTAATAGGGTTTAGTTAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCgg                                                                                                                                            <  1:401631/143‑1 (MQ=255)    tttttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGAtt                                                                                                                                         >  1:1041008/1‑149 (MQ=255)      ttgattaACAACGTCTTATTCTAATTATTTTGTGATGAGCGGTAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTaa                                                                                                                                       <  2:624983/146‑1 (MQ=255)                acGGCTTATTCTAATTATTTTGTGATGAGCGGAAGAGCGTGCGGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa                                                                                                                             <  2:913596/149‑1 (MQ=255)                    cTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTCCCCCGCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCa                                                                                                                         >  1:272077/1‑149 (MQ=255)                     ttATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAg                                                                                                                        >  1:577087/1‑149 (MQ=255)                          cTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                   <  1:610979/149‑1 (MQ=255)                            aaTTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGCATAATGCCGATTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgcgcgcgc                                                                                                                 >  1:876376/1‑149 (MQ=255)                              ttattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAg                                                                                                               >  2:822616/1‑149 (MQ=255)                               tattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGa                                                                                                              <  2:626080/149‑1 (MQ=255)                                 ttttGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACt                                                                                                            >  2:779853/1‑149 (MQ=255)                                       gatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATAtt                                                                                                      >  2:474117/1‑149 (MQ=255)                                         tgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATTGCGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc                                                                                                    <  1:882627/149‑1 (MQ=255)                                         agaGCGGCGGCGCGTGCCTCTCAAATATTACAGTTAATAGGGTTTAGTGATCGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc                                                                                                    <  2:44671/148‑1 (MQ=255)                                              ggCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc                                                                                               <  1:474117/149‑1 (MQ=255)                                               gCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAATGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTTAGCGCCAGCAGCCCCATATTGCGCAccc                                                                                              >  2:436038/1‑149 (MQ=255)                                               gCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGCCAATTCAGCGCGCGCAGACTCATATTGCGCAAcc                                                                                              >  2:392197/1‑149 (MQ=255)                                                   cgcgTGCCGCTCAAATATTACAGTTAATAGGGCTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                          <  1:779853/149‑1 (MQ=255)                                                       tGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAg                                                                                      <  1:983386/149‑1 (MQ=255)                                                          cGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTcc                                                                                   >  1:401003/1‑149 (MQ=255)                                                          cGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTcc                                                                                   >  2:184630/1‑149 (MQ=255)                                                              cAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgcg                                                                               >  2:260860/1‑149 (MQ=255)                                                               aaaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCa                                                                                                                         >  1:123845/1‑106 (MQ=255)                                                               aaaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCa                                                                                                                         <  2:123845/106‑1 (MQ=255)                                                               aaaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCgg                                                                              >  1:1130507/1‑149 (MQ=255)                                                                aaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTc                                                                                                           <  1:658838/119‑1 (MQ=255)                                                                aaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTc                                                                                                           >  2:658838/1‑119 (MQ=255)                                                                 atatTACAGATAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGCCAATTCAGCGCTAGCAGACTCATATTGCGCAATCTCCCCGAGTCCCGCGGAc                                                                            <  2:272077/149‑1 (MQ=255)                                                                   atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTAAATTAAACGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGc                                                                          >  2:417581/1‑149 (MQ=255)                                                                     tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATTTTTCGCAACCTCCCCGAGTCCCGCGGACACCa                                                                        >  1:29801/1‑149 (MQ=255)                                                                       cAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                          >  1:1040369/1‑129 (MQ=255)                                                                       cAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                          <  2:1040369/129‑1 (MQ=255)                                                                         gTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGAGTAAGCGG‑GGGGTTGCCTGCCGATTTAGTCCACTCCCGCTTAATCGCCGTCAATACAGGGCGAGCAGACTCATTTGGCGCAACCTCCCCGAGACCCGCCGACGCCAGcct                                                                    >  2:1090540/1‑147 (MQ=255)                                                                             aTAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGCCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCCCGGACGCCAGCATCGcc                                                                >  1:923615/1‑149 (MQ=255)                                                                              tAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCTGACGCCAGCATCGcca                                                               <  1:991162/149‑1 (MQ=255)                                                                               aGGGTTTAGTGAACGCGTTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccac                                                              <  2:65914/149‑1 (MQ=255)                                                                               aGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATAA‑CGGTGGGGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccac                                                              <  1:882972/149‑1 (MQ=255)                                                                                  gTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGAATCGCCACCAt                                                           >  1:183521/1‑149 (MQ=255)                                                                                         gAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAt                                                    >  2:625722/1‑149 (MQ=255)                                                                                             gcgGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCTTCAGGCAttttt                                                >  1:1092685/1‑149 (MQ=255)                                                                                                 ttAAAAATAAGCGGCAGCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGAATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCCCCATCAGCCCTTTTTCttt                                            >  2:136222/1‑149 (MQ=255)                                                                                                   acaaaTAAAAGGGATCA‑CGGTTTTGAAGAATGCCTCGTTCGGCCAATCCGGATTAATCGCCCTCAATTCAGCGCGAGCAGACTCATATTGCTCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt                                          <  1:108479/147‑1 (MQ=255)                                                                                                   aaaaaTAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt                                          <  1:822616/149‑1 (MQ=255)                                                                                                     aaaTAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc                                        >  2:1041185/1‑149 (MQ=255)                                                                                                            aGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGCGCGGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCCTCGCCACCATCAGGCATTTTTCTTTACGCTGCtgtt                                 >  1:385227/1‑149 (MQ=255)                                                                                                                   a‑CGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc                          <  2:1041008/149‑1 (MQ=255)                                                                                                                        tggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCa                      <  1:260860/149‑1 (MQ=255)                                                                                                                            gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACa                  >  2:116668/1‑149 (MQ=255)                                                                                                                               taatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCg               >  1:961651/1‑149 (MQ=255)                                                                                                                                aatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa              <  1:1105520/149‑1 (MQ=255)                                                                                                                                        tttCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTCTCCTGCTGTTGTACATCGCCATACAGCCACAACAAgc      >  2:142421/1‑148 (MQ=255)                                                                                                                                            ggCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAgg  >  2:744073/1‑149 (MQ=255)                                                                                                                                                  |                                                                                                                                               GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCA‑CGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG  >  NC_000913_3_hsa_tpiA/2679381‑2679667

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: ‑