SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs12718 | snp | A/C | 0.37682 | 0.215445 | utr-variant-5-prime, intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76999994 | GCGTTTCGCAGACTC[A/C]TAAGGTCAGTGTCTG | 5828 |
rs1133474 | snp | A/T | 0 | 0 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76981862 | ACTGAAGAAGTTTTG[A/T]AGTTTGAGTTAAGAG | 5828 |
rs1133475 | snp | A/G | 0 | 0 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76981602 | CTTCAAAACTATTTT[A/G]GGGCTGAGCAGGACA | 5828 |
rs1136687 | snp | A/C | 0 | 0 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76983111 | GACTGAAATCTAATC[A/C]CTGGAAACCATGTGA | 5828 |
rs4297017 | snp | C/T | 0.0905309 | 0.192535 | intron-variant | PEX2 | GRCh38.p7 | 8:76986169 | ATAAATGCCAATGAT[C/T]TTCTGGGGAGATCTC | 5828 |
rs4311633 | snp | C/T | 0.0279526 | 0.114869 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76982067 | GGCAGTGTATTTCCA[C/T]CATACTAGCAAGATG | 5828 |
rs4346973 | snp | C/T | 0.0279526 | 0.114869 | intron-variant, missense | PEX2, LOC105375907 | GRCh38.p7 | 8:76993444 | AAGACTATACTATCC[C/T]TTCACATTTTTGGGT | 5828 |
rs4388434 | snp | C/T | 0.0872718 | 0.189788 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76980884 | CAGAGATGTGGCACA[C/T]TGCCCTAGGTTATAC | 5828 |
rs4416802 | snp | C/T | 0.0872718 | 0.189788 | intron-variant | PEX2 | GRCh38.p7 | 8:76985718 | CCCTAACAGAAAGAA[C/T]AGTTACTGAGGGAGG | 5828 |
rs4507742 | snp | C/T | 0.421842 | 0.181577 | intron-variant | PEX2 | GRCh38.p7 | 8:76987516 | TTATGAGGAAGGTAA[C/T]GGGAAGCCCCCAATA | 5828 |
rs4537282 | snp | C/T | 0.0663309 | 0.169604 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76999081 | ACAAGTAATTGATAA[C/T]ATAGGTGAGATCAGA | 5828 |
rs4551327 | snp | C/T | 0.498415 | 0.0281103 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76992708 | TTCTCTGACAAATGG[C/T]TACTCAATGTAACAA | 5828 |
rs4562293 | snp | G/T | 0.0883596 | 0.190715 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76993844 | AGGGGAGGGGAGAGA[G/T]ATATTTATTGGCTAT | 5828 |
rs4596624 | snp | C/T | 0.0279526 | 0.114869 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76996977 | ACTTAGTAGAATGGA[C/T]ATTTGCTAAGCTTGG | 5828 |
rs4610720 | snp | A/G | 0.0872718 | 0.189788 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76982534 | ACAACTGAGGCGGCC[A/G]AGCACAGTGGCTCAC | 5828 |
rs4735671 | snp | C/G | 0.402277 | 0.198272 | intron-variant | PEX2 | GRCh38.p7 | 8:76990057 | aattatttagctaaa[C/G]cttctggataacttg | 5828 |
rs4735749 | snp | A/C | 0.499368 | 0.0177603 | intron-variant | PEX2 | GRCh38.p7 | 8:76986696 | AACTGAAAACTCATA[A/C]TAAGATTTTAAGTAC | 5828 |
rs4735750 | snp | A/G | 0.498525 | 0.0271165 | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77002682 | aaccaccaccaattt[A/G]ttaccttacagttct | 5828 |
rs6981675 | snp | A/G | 0.0876345 | 0.190099 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76992071 | TGGCAGTTAAACCAC[A/G]AACATAATGTCACCC | 5828 |
rs6990515 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76998941 | TCTAGTATTCGCTCT[A/G]TGTCCTGTTACTTCT | 5828 |
rs6994559 | snp | C/T | 0.498927 | 0.0231381 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76995907 | ACACTATACTCTTCA[C/T]TGGCTAAAAAAAGAA | 5828 |
rs6999547 | snp | C/T | 0.0876345 | 0.190099 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76996583 | TAGATGTTTAAATAC[C/T]CTATAAATAATTTAA | 5828 |
rs7001566 | snp | C/T | 0.000399281 | 0.0141238 | upstream-variant-2KB, utr-variant-5-prime, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77000923 | GATCGCCACTGCCTT[C/T]TCGTTCTGTGGTATG | 5828 |
rs7001776 | snp | C/G | 0.0209421 | 0.100162 | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77001077 | CCTACAAGGAACACT[C/G]ACTTCTACGAAAGCT | 5828 |
rs7006751 | snp | C/G | 0.0715223 | 0.175059 | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77001866 | ATGCGGGGAAACATG[C/G]AACAGTTAAAATTCT | 5828 |
rs7006841 | snp | C/T | 0.0279526 | 0.114869 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76992769 | CATTCTCCTAGGTAC[C/T]AGAGATTCAATCTAA | 5828 |
rs7016885 | snp | C/T | 0 | 0 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76994394 | ATTGACAGAAATCTA[C/T]CAATAATAATGTGGG | 5828 |
rs9298285 | snp | C/T | 0.0214609 | 0.10134 | PEX2 | 8 | allele_origin=T(unknown)/C(germline) | 8:76984155 | TCTGTTTGCACTCTT[C/T]GCATTCTCTTTTCTG | 5828 |
rs9643715 | snp | A/G | 0.404733 | 0.196361 | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77001701 | CGGGGGAAAATACAC[A/G]CAAAGACTTGATTGA | 5828 |
rs10081480 | snp | G/T | 0.0667028 | 0.170006 | utr-variant-5-prime, intron-variant, missense | PEX2, LOC105375907 | GRCh38.p7 | 8:77000188 | CTTTAGCGGCGCTGC[G/T]GAAGGCACTGGATGG | 5828 |
rs10087163 | snp | A/G | 0.0241461 | 0.107192 | missense | PEX2 | GRCh38.p7 | 8:76983629 | CAAAGCCAACTTCAC[A/G]TATGTTTTGAGGCTT | 5828 |
rs10089271 | snp | A/T | 0.41141 | 0.19091 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76993082 | ATGTGGCTGCATCTG[A/T]TATCTGGAAGGAGAC | 5828 |
rs10106087 | snp | C/T | 0.396909 | 0.202282 | intron-variant | PEX2 | GRCh38.p7 | 8:76984609 | GATACAGGAAGGTAA[C/T]AAATACAACAACTAT | 5828 |
rs10108054 | snp | C/T | 0.0752113 | 0.178743 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76982120 | CTGTTTTTTAAAAAA[C/T]ATTCTAGTTAAGACG | 5828 |
rs10694404 | in-del | -/AAAC | 0.00755907 | 0.0610114 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76995920 | ATTGGCTAAAAAAAG[-/AAAC]AAACAAAAAAAAGCA | 5828 |
rs10808814 | snp | C/T | 0.4021 | 0.198407 | intron-variant | PEX2 | GRCh38.p7 | 8:76988783 | caaaccctgccattg[C/T]tttatcaattaagtt | 5828 |
rs10957830 | snp | A/C | 0.40157 | 0.198813 | intron-variant | PEX2 | GRCh38.p7 | 8:76984236 | ATTAGCAAAGAGTTG[A/C]AATCTTGTACAACCT | 5828 |
rs10957831 | snp | C/G | 0.416218 | 0.186739 | intron-variant | PEX2 | GRCh38.p7 | 8:76989074 | cctagctactaaggg[C/G]aggctgacgcaggag | 5828 |
rs11538555 | snp | C/G | | | utr-variant-5-prime, missense | PEX2, LOC105375907 | GRCh38.p7 | 8:77000084 | GCGAGTTCCGGAAGC[C/G]TTGGTAATCCAGATT | 5828 |
rs11786732 | snp | C/T | 0.401924 | 0.198543 | intron-variant | PEX2 | GRCh38.p7 | 8:76987840 | GAAACAAGAAATACA[C/T]GAGGCAATACAGGTT | 5828 |
rs12156404 | snp | A/T | 0.40157 | 0.198813 | upstream-variant-2KB, intron-variant, synonymous-codon | PEX2, LOC105375907 | GRCh38.p7 | 8:77000372 | AAGTGAGGACACTAC[A/T]AGTGTCGAGGGGCCT | 5828 |
rs12681273 | snp | G/T | | | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77002152 | TCAGTTCAGAGGCAG[G/T]GAATAAGTAAATAAT | 5828 |
rs13250897 | snp | A/C | | | synonymous-codon | PEX2 | GRCh38.p7 | 8:76983582 | CAGAAATTCAGCAAA[A/C]CCATGCCAGAGAAGT | 5828 |
rs13251576 | snp | A/G | 0.0360663 | 0.129354 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76997947 | GGCTTTTCTCCTGAG[A/G]TTTCTTGTACATTCC | 5828 |
rs13251732 | snp | C/T | 0.0210872 | 0.100494 | missense | PEX2 | GRCh38.p7 | 8:76983734 | AATTAATCAGCCCAC[C/T]TAATTTCAAAAGTCC | 5828 |
rs13276738 | snp | A/G | 0.0876345 | 0.190099 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76997201 | AAGGACCATTCAAAG[A/G]ACCATGTCAAATCTG | 5828 |
rs16939392 | snp | C/G | 0.0752113 | 0.178743 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76992921 | TCACAAAACTTTCCA[C/G]GGAGAAAAGAGGAAA | 5828 |
rs16939393 | snp | A/G | 0.016128 | 0.0883395 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76994008 | GTATAGCATCTACTA[A/G]GGTTCGTGTGATTAA | 5828 |
rs16939394 | snp | A/G | 0.123957 | 0.215901 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76999912 | CGGCGACAATTACAA[A/G]GTCGTGAAACTCCAC | 5828 |
rs16939395 | snp | A/T | 0.406468 | 0.194981 | upstream-variant-2KB, intron-variant, missense | PEX2, LOC105375907 | GRCh38.p7 | 8:77000651 | GGAGGATAGGCTGTT[A/T]ATCTCTGCAGGCTCA | 5828 |
rs17367674 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | PEX2 | GRCh38.p7 | 8:76987345 | AGCAGCCACCTGATA[C/T]TAGCATGTCAGCCTG | 5828 |
rs17446112 | snp | C/T | 0.0134861 | 0.0810011 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76991450 | CTACGTAAGACTCTT[C/T]AATAGACCAAAAGAC | 5828 |
rs28364724 | in-del | AGTAGTGTCCTCGACACTA/T | 0.5 | 0 | upstream-variant-2KB, intron-variant, cds-indel | PEX2, LOC105375907 | GRCh38.p7 | 8:77000372 | AGGCCCCTCGACACT[AGTAGTGTCCTCGACACTA/T]GTAGTGTCCTCACTT | 5828 |
rs28435921 | snp | A/T | 0.499354 | 0.0179596 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76980598 | CAGGAATGTGCACAT[A/T]ATCCAAGGCAGACCA | 5828 |
rs28613097 | snp | A/G | 0.0146672 | 0.084371 | intron-variant, upstream-variant-2KB | PEX2, LOC105375907 | GRCh38.p7 | 8:76991844 | ACCAGATAATGTTAC[A/G]AAAGTGGTTTAGAAG | 5828 |
rs28712819 | snp | A/T | 0.0748431 | 0.178382 | intron-variant | PEX2 | GRCh38.p7 | 8:76984918 | TCTAAGAAAACTATG[A/T]TATAAAAATATATAC | 5828 |
rs33977560 | in-del | -/AAAC | | | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76995921 | TTGGCTAAAAAAAGA[-/AAAC]AACAAAAAAAAGCAA | 5828 |
rs34063162 | in-del | -/TTTAA | | | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76999386 | CGATTTTTAATTTAA[-/TTTAA]GAACCCAGGAAAAAA | 5828 |
rs34071452 | in-del | -/G | | | upstream-variant-2KB, intron-variant, frameshift-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:77000443 | TGCGGACATCGCGAA[-/G]GGCCTCTGGCAGGCG | 5828 |
rs34238954 | in-del | -/A | | | intron-variant | PEX2 | GRCh38.p7 | 8:76985176 | AAATCCACCCATGAC[-/A]AAAAAAAAAAAAAAA | 5828 |
rs34389994 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76996404 | TCCTATACTGACAAC[A/G]CGGTAATGGACCCAA | 5828 |
rs34482914 | in-del | -/T | 0.433818 | 0.169443 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76996806 | ACATTCTTTATTTCA[-/T]TTTAATCCTCACAAC | 5828 |
rs34502070 | in-del | -/G | | | intron-variant | PEX2 | GRCh38.p7 | 8:76985619 | ACTCCAATAAAGCTA[-/G]GGGGAAAAAAACACA | 5828 |
rs34543653 | in-del | -/T | 0.425123 | 0.178415 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76994629 | TACAGTCCTGTAAAC[-/T]TTTGTCAGCAGAAAC | 5828 |
rs34584496 | in-del | -/AA | | | intron-variant | PEX2 | GRCh38.p7 | 8:76985190 | AAATCCACCCATGAC[-/AA]AAAAAAAAAAAAAAT | 5828 |
rs34704553 | in-del | -/T/TT | | | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77001158 | TGTTATTAGGAAAGT[-/T/TT]TTTTTTTTTTTTTGC | 5828 |
rs34790497 | in-del | -/C | | | intron-variant | PEX2 | GRCh38.p7 | 8:76988438 | CTGCAGTCTATTAAG[-/C]TGTGCAATAGCACTG | 5828 |
rs35006173 | in-del | -/T | 0.419776 | 0.18351 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76998957 | TCTATTTTTTTTTTT[-/T]AAGAAAAAAATATGA | 5828 |
rs35089903 | in-del | -/GT/TG | | | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76999752 | GCTCAACTGCAGCTG[-/GT/TG]TGTGTGTGTTTATTT | 5828 |
rs35218706 | snp | C/T | 0.00100724 | 0.0224189 | PEX2 | 8 | allele_origin=T(unknown)/C(germline) | 8:76983702 | TGCAAACTTTCCCCT[C/T]TGAAGGAAAATCAAA | 5828 |
rs35626222 | in-del | -/C | | | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76997960 | GGTTTCTTGTACATT[-/C]CCAAAGGAATAGAAA | 5828 |
rs35689779 | snp | C/T | 0.00141718 | 0.0265816 | PEX2 | 8 | allele_origin=T(germline)/C(unknown) | 8:76983970 | GTGGCATTTTTGGAG[C/T]AGATGGTGAATCTCC | 5828 |
rs35746829 | in-del | -/C | | | intron-variant | PEX2 | GRCh38.p7 | 8:76985596 | TACCATTTTTACTTG[-/C]CCAATTATACTCCAA | 5828 |
rs35835561 | in-del | -/G | | | intron-variant | PEX2 | GRCh38.p7 | 8:76988027 | TTAAATCTACTTGAT[-/G]CTACATAAGTGCTAA | 5828 |
rs35978283 | in-del | -/A | | | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76994065 | AAATGATCTAGTACT[-/A]AAAACTATTAAAAGG | 5828 |
rs36209625 | in-del | -/TTTAA | 0.0865458 | 0.189163 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76999377 | AAACAAACAACGATT[-/TTTAA]TTTAAGAACCCAGGA | 5828 |
rs55716567 | snp | A/G | 0.0748431 | 0.178382 | intron-variant | PEX2 | GRCh38.p7 | 8:76988650 | TCTTATAACAACAAC[A/G]AAGTTTGCTGCATGG | 5828 |
rs55886246 | snp | A/G | | | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76981262 | GACTGCTTGAGCCCA[A/G]AAGTTCAAGACCAGC | 5828 |
rs56178165 | in-del | -/AA | 0 | 0 | intron-variant | PEX2 | GRCh38.p7 | 8:76989027 | AAAAAAAAAAAAAAA[-/AA]TTAGCCAGGCGTGCT | 5828 |
rs56231626 | snp | A/G | 0.0637235 | 0.166737 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76980923 | GATTTGAATTCTAGC[A/G]GAATCTGTGTCCCTC | 5828 |
rs57654410 | snp | C/G | 0.0185938 | 0.0946107 | upstream-variant-2KB, utr-variant-3-prime | PEX2, LOC105375907 | GRCh38.p7 | 8:77001660 | GCCTACAGATGTGCT[C/G]TGCTTCACTTAATTT | 5828 |
rs59296540 | snp | C/T | 0.0189856 | 0.0955633 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76980955 | TGCCATGTACACTCA[C/T]CAAAAAAATGAGAGC | 5828 |
rs60300869 | snp | C/T | 0.00835141 | 0.0640778 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76981496 | AACAAAAAACAAAGA[C/T]GTTTGTATATATTTT | 5828 |
rs60633248 | in-del | -/A | 0.0861826 | 0.188849 | intron-variant | PEX2 | GRCh38.p7 | 8:76990919 | AAACTTGATTGACTC[-/A]GGTTTGCTACAAACC | 5828 |
rs60915975 | snp | A/T | | | intron-variant | PEX2 | GRCh38.p7 | 8:76988868 | CCAGGTATAAACTCC[A/T]TCTCAAGAAACCACT | 5828 |
rs61752118 | snp | C/T | | | stop-gained | PEX2 | GRCh38.p7 | 8:76984064 | TGGTCCCAGTTTACT[C/T]AGTGCTTTCATGGAT | 5828 |
rs61752119 | snp | A/G | | | missense | PEX2 | GRCh38.p7 | 8:76984016 | GCTCGCTTTGAGCCA[A/G]AGGTGAAAGCGTGCT | 5828 |
rs61752121 | in-del | -/T | | | frameshift-variant | PEX2 | GRCh38.p7 | 8:76983906 | AAATGATTTTTCCCC[-/T]AACCTGAGATATCAG | 5828 |
rs61752122 | in-del | -/GAGAT | 3.29853e-05 | 0.00406098 | PEX2 | 8 | allele_origin=G(germline)/+.-----(germline) | 8:76983896 | TTTTTCCCCTAACCT[-/GAGAT]ATCAGCCACCCAGTA | 5828 |
rs61752123 | snp | C/T | 0.000280105 | 0.0118311 | PEX2 | 8 | allele_origin=T(germline)/C(germline) | 8:76983824 | AGGTGGTTAGAAGAA[C/T]GATGCTATGATTTGT | 5828 |
rs61752124 | snp | A/C/T | 3.29632e-05 | 0.00405964 | PEX2 | 8 | allele_origin=T(unknown)/C(germline) | 8:76983806 | TGCTATGATTTGTTT[A/C/T]GAAACCATCATTTAG | 5828 |
rs61752126 | in-del | -/G | | | frameshift-variant | PEX2 | GRCh38.p7 | 8:76983537 | ACTTATCAATGTCCA[-/G]AAGTTGAAAGCCAAG | 5828 |
rs61752127 | snp | A/G | | | stop-gained | PEX2 | GRCh38.p7 | 8:76983510 | CAAGCTGTCTTCATG[A/G]TGTATTCCTCTTACT | 5828 |
rs61752128 | snp | C/T | | | missense | PEX2 | GRCh38.p7 | 8:76983440 | AAAGAATGCGCTCTA[C/T]GTGGAGAGTGGCCCA | 5828 |
rs63545361 | in-del | -/A | | | frameshift-variant | PEX2 | GRCh38.p7 | 8:76983629 | CAAAGCCAACTTCAC[-/A]TATGTTTTGAGGCTT | 5828 |
rs66637612 | in-del | -/A | | | intron-variant | PEX2 | GRCh38.p7 | 8:76990920 | AACTTGATTGACTCG[-/A]GTTTGCTACAAACCT | 5828 |
rs71260333 | in-del | -/CAAA | 0 | 0 | intron-variant | PEX2, LOC105375907 | GRCh38.p7 | 8:76995927 | AAAAAAAGAAACAAA[-/CAAA]AAAAAGCAACTGTAA | 5828 |
rs73242165 | snp | A/G | 0.0748431 | 0.178382 | utr-variant-3-prime | PEX2 | GRCh38.p7 | 8:76980815 | TATGTGTCAGGCATT[A/G]TTTTAAGAGCTTTAT | 5828 |
rs73242185 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | PEX2 | GRCh38.p7 | 8:76988180 | TGATAAAGATACATA[C/T]ATCTCTGGGCTTTTA | 5828 |
rs73242191 | snp | A/G | 0.0123036 | 0.0774623 | intron-variant | PEX2 | GRCh38.p7 | 8:76991140 | TCAGGTTCCTTAGTG[A/G]TATTTAGTGAGAAAC | 5828 |