Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	3,089,163	G→C	V294L (GTG→CTG)	galP →	D‑galactose transporter

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	3,089,163	0	G	C	95.2%	128.3 / 0.2	42	V294L (GTG→CTG)	galP	D‑galactose transporter
Reads supporting (aligned to +/- strand):  ref base G (1/1);  new base C (18/22);  total (19/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.86e-01

ACAGCAACTTCCGCCGCGCGGTGTTCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCGTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTACAATGATGCATATCG  >  NC_000913_3_hsa_tpiA/3089017‑3089304                                                                                                                                                   |                                                                                                                                              aCAGCAACTTCCGCCGCGCGGTGTTCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGCACCCGCGGGTTACAGCAATCCTAACGAGCAAATGTGGGGGACCCTg                                                                                                                                             <  2:646144/149‑1 (MQ=255)   aGCAACTTCCGCCGCGCGGTGTTCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGAt                                                                                                                                           >  1:430538/1‑149 (MQ=255)    gCAACTGCCGCCGCGCGGTGTTCCTTGGCGTACTGTTGCCGGTAATGCAGCAATTCGCCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGCACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGAtt                                                                                                                                          <  2:831532/149‑1 (MQ=255)       aCTTCCGCCGCGCGGTGTTCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTc                                                                                                                                       <  2:12758/149‑1 (MQ=255)            cgctgggcgGTGTTCCTTGGCGGACTGTTGCAGGTAATGCAGTAATTCACTGGCATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGGGGGTTATACTAACACTACCGTGCAAATGTGGGGGACCCTGATTGTCGGCCt                                                                                                                                  <  2:361408/143‑1 (MQ=255)                gcgcgGTGTTCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGAcc                                                                                                                              >  1:761349/1‑149 (MQ=255)                      tgtTCCTTGGCGTACTGTTGGAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACTTa                                                                                                                        <  2:495195/149‑1 (MQ=255)                         tCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACtt                                                                                                                     <  1:749935/149‑1 (MQ=255)                                                  gcagcaATTCACCGTGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCttg                                                                                            <  1:444065/149‑1 (MQ=255)                                                   cagcaATTCACCGGGATGAACGTCCTCGTGCAACACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCttgt                                                                                           >  2:840627/1‑149 (MQ=255)                                                      caATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTAGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGa                                                                                        >  1:574322/1‑149 (MQ=255)                                                             ccGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTgg                                                                                 <  2:522636/149‑1 (MQ=255)                                                                ggATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTAATACCAACACTACCGAGCAAATGTGGGTGACCCTGATTGTACGCCTGACCAACGTACGTTCAACATTTATAGCAATCTGCCTTGTTGCCCGCTgtaga                                                                              >  2:362808/1‑145 (MQ=255)                                                                 gATGAACGTCATCATGGATTACGCGCCTAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAACTGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTACCGCAATCGGCCTTGTTGACCGCTGGGGAc                                                                             <  1:470014/149‑1 (MQ=255)                                                                   tGAACGCCATCATGGATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGt                                                                           <  1:809894/149‑1 (MQ=255)                                                                     aaCGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCCCCTTTATCGCAATCGGCCTTGTTGACGGCTGGGGACGTaa                                                                         >  1:839466/1‑149 (MQ=255)                                                                     aaCGGCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGCTTGTCGGCCTGACCGACGAACTTGCCACCTTTATCGCAGTCGGCCTTATTAACCGCTGGGGGCGtca                                                                         >  2:68638/1‑147 (MQ=255)                                                                               tGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCaacgcta                                                               >  1:778547/1‑149 (MQ=255)                                                                                  aTTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACACTGATTGCCGGCCTGACCCACGTACTTGCCCCCTGTATCGCAATCCGCCTTGTTGACCGCTGCGGACCTACACCaacgctaacg                                                            >  2:138977/1‑149 (MQ=255)                                                                                           cGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTc                                                   >  1:393457/1‑149 (MQ=255)                                                                                              aaaccctCGAACTTGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTCCATAGCATTCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTg                                                <  1:248181/143‑1 (MQ=255)                                                                                                aTCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGt                                              <  2:430538/149‑1 (MQ=255)                                                                                                 tCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTg                                             <  1:319270/149‑1 (MQ=255)                                                                                                  cTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGa                                            >  2:502922/1‑149 (MQ=255)                                                                                                      gAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGAt                                           <  2:710612/146‑1 (MQ=255)                                                                                                      gAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGAt                                           >  1:710612/1‑146 (MQ=255)                                                                                                          tcgCGGGTTATCCCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGgctgct                                    <  1:749258/147‑1 (MQ=255)                                                                                                                gTTATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAACCAACCCCGTTGACCGCGGGGGACGTAAACCAACGCTAACGCGGGGCATCCTGGGGGTGGCTGCTGGCATg                              >  1:202953/1‑149 (MQ=255)                                                                                                                 ttATACCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTTGTGATGGCTGCTGGCATgg                             <  2:734406/149‑1 (MQ=255)                                                                                                                   ataCCAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGc                           <  1:422967/149‑1 (MQ=255)                                                                                                                       cAACACTACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTAc                       >  1:433434/1‑149 (MQ=255)                                                                                                                          cacTCCCGTGTAAATGTGGGTGACTCTCATGGGCGGCCTGACCAACGTACTGGGCACCTTTATCGCAATCGGCCTTGTTGAGCGCTGGGCACGTAAACCAACGCTAACGGTGGGCTTCCTGGTGATGGCTTCTGGCATGGGCGTACTCg                    <  2:641824/149‑1 (MQ=255)                                                                                                                             tACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGCCCAACGTACTTGCCACCTTTATCGCAATCGGACTTATTCAACGCTGGAGACGTAAACCAACGCTAACGCTGGGCTGCCTAGGTATGGCTGCTGGCATGGGCGGAccccgtt                 >  2:352693/1‑143 (MQ=255)                                                                                                                             tACCGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTa                 <  2:778547/149‑1 (MQ=255)                                                                                                                             tACCGAGCAAATGTGGGGGACCCCGCTTGTCGGCCTGACCACCGTAACGTCTACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTa                 <  1:417813/149‑1 (MQ=255)                                                                                                                               ccGAGCAAATGTGGGGGACCGTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAAc                                                                       <  1:273315/93‑1 (MQ=255)                                                                                                                               ccGAGCAAATGTGGGGGACCGTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAAc                                                                       >  2:273315/1‑93 (MQ=255)                                                                                                                                cGAGCAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTACaa              >  2:500769/1‑149 (MQ=255)                                                                                                                                    cAAATGTGGGGGACCCTGATTGTCGGCCTGACCAACGTCCTTGCCACCTTTATCGCAATCGGCCTTGTTGCCCGCTGGGGACGTAAACCAACGCTAAGGCTCGGCTTCCGGGTGATGACTGCTGGAATGGGGGGAGTCGGTagcaggtg          >  2:237691/1‑142 (MQ=255)                                                                                                                                            gggtACCCTGATTGTCGGCCTGACCATCGTACTTGCCGCCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGCGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTACAATGATGCATATCg  <  2:317711/149‑1 (MQ=255)                                                                                                                                            ggggACCCTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTACAATGATGCATATCg  <  1:130883/149‑1 (MQ=255)                                                                                                                                            ggggACCCTGATTGGCGGCCTGACGAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGGAAGAGCGTACTCGGTACAATGATGCATATCg  >  1:752933/1‑149 (MQ=255)                                                                                                                                                   |                                                                                                                                              ACAGCAACTTCCGCCGCGCGGTGTTCCTTGGCGTACTGTTGCAGGTAATGCAGCAATTCACCGGGATGAACGTCATCATGTATTACGCGCCGAAAATCTTCGAACTGGCGGGTTATACCAACACTACCGAGCAAATGTGGGGGACCGTGATTGTCGGCCTGACCAACGTACTTGCCACCTTTATCGCAATCGGCCTTGTTGACCGCTGGGGACGTAAACCAACGCTAACGCTGGGCTTCCTGGTGATGGCTGCTGGCATGGGCGTACTCGGTACAATGATGCATATCG  >  NC_000913_3_hsa_tpiA/3089017‑3089304

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑