Item | Value |
---|---|
geneid | 11234 |
ensemblid | ENSG00000110756.18 |
hgncid | 17022 |
symbol | HPS5 |
name | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
refseq_nuc | NM_181507.2 |
refseq_prot | NP_852608.1 |
ensembl_nuc | ENST00000349215.8 |
ensembl_prot | ENSP00000265967.5 |
mane_status | MANE Select |
chr | chr11 |
start | 18278676 |
end | 18322140 |
strand | - |
ver | v1.2 |
region | chr11:18278676-18322140 |
region5000 | chr11:18273676-18327140 |
regionname0 | HPS5_chr11_18278676_18322140 |
regionname5000 | HPS5_chr11_18273676_18327140 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 1129 | 295 | 81 | 50 | 128 | 10 | 24 | 99 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0002 | 0/0 | 1129 | 56 | 14 | 10 | 28 | 3 | 1 | 22 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0003 | 0/0 | 1129 | 3 | 0 | 2 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0004 | 0/0 | 1129 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0005 | 0/0 | 1129 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0006 | 0/0 | 1129 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0007 | 0/0 | 1129 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0008 | 0/0 | 1129 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0009 | 0/0 | 1129 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0010 | 0/0 | 1129 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0011 | 0/0 | 1129 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0012 | 0/0 | 1129 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0013 | 0/0 | 1129 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0014 | 0/0 | 1129 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0015 | 0/0 | 1129 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0016 | 0/0 | 1129 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
a0017 | 0/0 | 1129 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | MAFVP others(1124): Show |
chr11 | 18273676 | 18327140 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 3387 | 232 | 53 | 35 | 120 | 9 | 15 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0001c0003 | 1/1 | 3387 | 51 | 17 | 15 | 8 | 1 | 8 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0001c0004 | 0/0 | 3387 | 9 | 9 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0001c0010 | 0/0 | 3387 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0001c0014 | 0/0 | 3387 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0001c0018 | 0/0 | 3387 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0002c0002 | 0/0 | 3387 | 55 | 14 | 9 | 28 | 3 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0002c0024 | 0/0 | 3387 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0003c0008 | 0/0 | 3387 | 2 | 0 | 2 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0003c0019 | 0/0 | 3387 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0004c0005 | 0/0 | 3387 | 3 | 0 | 0 | 3 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0005c0007 | 0/0 | 3387 | 2 | 0 | 0 | 0 | 0 | 2 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0006c0006 | 0/0 | 3387 | 2 | 0 | 0 | 2 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0007c0021 | 0/0 | 3387 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0008c0016 | 0/0 | 3387 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0009c0017 | 0/0 | 3387 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0010c0020 | 0/0 | 3387 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0011c0015 | 0/0 | 3387 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0012c0009 | 0/0 | 3387 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0013c0013 | 0/0 | 3387 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0014c0011 | 0/0 | 3387 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0015c0012 | 0/0 | 3387 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0016c0023 | 0/0 | 3387 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 | ||
a0017c0022 | 0/0 | 3387 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | ATGGC others(3382): Show |
chr11 | 18273676 | 18327140 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 4840 | 70 | 33 | 4 | 32 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0002 | 0/0 | 4840 | 57 | 3 | 5 | 44 | 1 | 4 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0003 | 0/0 | 4840 | 76 | 0 | 23 | 37 | 6 | 10 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0004 | 0/0 | 4840 | 3 | 1 | 0 | 0 | 2 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0005 | 0/0 | 4840 | 9 | 7 | 2 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0006 | 0/0 | 4840 | 5 | 5 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0007 | 0/0 | 4840 | 5 | 0 | 0 | 5 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0008 | 0/0 | 4840 | 4 | 3 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0010 | 0/0 | 4840 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0011 | 0/0 | 4840 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0001t0013 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0003t0001 | 1/1 | 4840 | 31 | 4 | 8 | 8 | 1 | 8 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0003t0003 | 0/0 | 4840 | 2 | 0 | 2 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0003t0004 | 0/0 | 4840 | 15 | 11 | 4 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0003t0009 | 0/0 | 4840 | 3 | 2 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0004t0001 | 0/0 | 4840 | 9 | 9 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0010t0001 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0014t0001 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0001c0018t0002 | 0/0 | 4840 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0002c0002t0001 | 0/0 | 4840 | 2 | 1 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0002c0002t0002 | 0/0 | 4840 | 47 | 11 | 9 | 25 | 1 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0002c0002t0003 | 0/0 | 4840 | 4 | 0 | 0 | 2 | 2 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0002c0002t0004 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0002c0002t0014 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0002c0024t0002 | 0/0 | 4840 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0003c0008t0001 | 0/0 | 4840 | 2 | 0 | 2 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0003c0019t0003 | 0/0 | 4840 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0004c0005t0003 | 0/0 | 4840 | 3 | 0 | 0 | 3 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0005c0007t0002 | 0/0 | 4840 | 2 | 0 | 0 | 0 | 0 | 2 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0006c0006t0002 | 0/0 | 4840 | 2 | 0 | 0 | 2 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0007c0021t0001 | 0/0 | 4840 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0008c0016t0003 | 0/0 | 4840 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0009c0017t0003 | 0/0 | 4840 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0010c0020t0006 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0011c0015t0012 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0012c0009t0004 | 0/0 | 4840 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0013c0013t0001 | 0/0 | 4840 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0014c0011t0003 | 0/0 | 4840 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0015c0012t0002 | 0/0 | 4840 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0016c0023t0002 | 0/0 | 4840 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
a0017c0022t0001 | 0/0 | 4840 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | AGTGC others(4835): Show |
chr11 | 18273676 | 18327140 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0324 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0328 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0329 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0333 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0337 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0338 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0001g0339 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0012 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0291 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0002g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0001 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0002 | 0/0 | 3 | 0 | 0 | 0 | 3 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0009 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0315 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0318 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0003g0336 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0004g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0004g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0004g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0015 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0306 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0005g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0006g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0006g0345 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0006g0347 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0006g0348 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0007g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0007g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0007g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0007g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0007g0335 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0008g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0008g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0008g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0010g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0011g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0001t0013g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0024 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0001g0057 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0003g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0003g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0004g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0009g0342 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0009g0343 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0003t0009g0344 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0304 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0004t0001g0305 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0010t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0014t0001g0334 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0001c0018t0002g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0005 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0218 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0002g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0003g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0003g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0003g0225 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0004g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0002t0014g0341 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0002c0024t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0003c0008t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0003c0008t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0003c0019t0003g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0004c0005t0003g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0004c0005t0003g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0004c0005t0003g0340 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0005c0007t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0005c0007t0002g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0006c0006t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0006c0006t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0007c0021t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0008c0016t0003g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0009c0017t0003g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0010c0020t0006g0346 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0011c0015t0012g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0012c0009t0004g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0013c0013t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0014c0011t0003g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0015c0012t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0016c0023t0002g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
a0017c0022t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0004 | g0189 | EUR | GBR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00099 | hp2 | a0001 | c0001 | t0003 | g0100 | EUR | GBR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00140 | hp1 | a0001 | c0001 | t0003 | g0142 | EUR | GBR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00140 | hp2 | a0001 | c0001 | t0003 | g0002 | EUR | GBR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00280 | hp1 | a0001 | c0001 | t0003 | g0002 | EUR | FIN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00280 | hp2 | a0001 | c0001 | t0002 | g0291 | EUR | FIN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00323 | hp1 | a0001 | c0003 | t0001 | g0025 | EUR | FIN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00323 | hp2 | a0001 | c0001 | t0004 | g0159 | EUR | FIN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00423 | hp1 | a0001 | c0001 | t0003 | g0008 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00423 | hp2 | a0002 | c0002 | t0002 | g0005 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00558 | hp1 | a0001 | c0001 | t0003 | g0080 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00558 | hp2 | a0001 | c0001 | t0003 | g0107 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00597 | hp2 | a0001 | c0001 | t0002 | g0252 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00609 | hp1 | a0001 | c0001 | t0002 | g0288 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00609 | hp2 | a0001 | c0001 | t0007 | g0125 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00621 | hp1 | a0002 | c0002 | t0002 | g0202 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | CHS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00639 | hp1 | a0001 | c0001 | t0003 | g0143 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00639 | hp2 | a0002 | c0002 | t0002 | g0224 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00642 | hp1 | a0001 | c0001 | t0002 | g0264 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0338 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00735 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00735 | hp2 | a0001 | c0001 | t0008 | g0185 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00738 | hp1 | a0001 | c0001 | t0003 | g0178 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00738 | hp2 | a0001 | c0001 | t0003 | g0182 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00741 | hp1 | a0007 | c0021 | t0001 | g0048 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG00741 | hp2 | a0001 | c0001 | t0003 | g0165 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01070 | hp1 | a0001 | c0001 | t0003 | g0150 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01070 | hp2 | a0001 | c0001 | t0005 | g0321 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01074 | hp1 | a0001 | c0001 | t0003 | g0186 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01074 | hp2 | a0001 | c0003 | t0004 | g0071 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01099 | hp1 | a0001 | c0003 | t0001 | g0046 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01099 | hp2 | a0001 | c0001 | t0003 | g0144 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01106 | hp1 | a0001 | c0003 | t0001 | g0021 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01106 | hp2 | a0008 | c0016 | t0003 | g0162 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01109 | hp1 | a0001 | c0001 | t0003 | g0166 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01109 | hp2 | a0001 | c0001 | t0003 | g0180 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01167 | hp1 | a0001 | c0001 | t0003 | g0094 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01167 | hp2 | a0001 | c0003 | t0001 | g0026 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01168 | hp1 | a0001 | c0001 | t0003 | g0106 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01168 | hp2 | a0001 | c0003 | t0001 | g0037 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01169 | hp1 | a0001 | c0003 | t0001 | g0036 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01169 | hp2 | a0001 | c0001 | t0003 | g0093 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0337 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01175 | hp2 | a0001 | c0003 | t0004 | g0069 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0324 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01243 | hp2 | a0001 | c0003 | t0009 | g0342 | AMR | PUR | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01256 | hp1 | a0001 | c0001 | t0003 | g0115 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01256 | hp2 | a0002 | c0002 | t0002 | g0237 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01258 | hp1 | a0002 | c0002 | t0002 | g0221 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01258 | hp2 | a0001 | c0001 | t0003 | g0160 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01261 | hp1 | a0001 | c0003 | t0001 | g0042 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01261 | hp2 | a0001 | c0003 | t0003 | g0172 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01346 | hp1 | a0001 | c0001 | t0003 | g0152 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01346 | hp2 | a0001 | c0001 | t0003 | g0177 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01361 | hp1 | a0001 | c0003 | t0001 | g0031 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01361 | hp2 | a0001 | c0003 | t0004 | g0070 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01433 | hp1 | a0002 | c0002 | t0002 | g0005 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01433 | hp2 | a0001 | c0001 | t0005 | g0306 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01496 | hp1 | a0001 | c0003 | t0004 | g0061 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01496 | hp2 | a0001 | c0003 | t0001 | g0049 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01516 | hp1 | a0002 | c0002 | t0003 | g0225 | EUR | IBS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01516 | hp2 | a0009 | c0017 | t0003 | g0151 | EUR | IBS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01517 | hp1 | a0001 | c0001 | t0003 | g0002 | EUR | IBS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01517 | hp2 | a0002 | c0002 | t0003 | g0222 | EUR | IBS | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01884 | hp1 | a0010 | c0020 | t0006 | g0346 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01884 | hp2 | a0001 | c0003 | t0004 | g0059 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01891 | hp1 | a0002 | c0002 | t0002 | g0231 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01891 | hp2 | a0001 | c0003 | t0009 | g0344 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01934 | hp1 | a0003 | c0008 | t0001 | g0052 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01934 | hp2 | a0001 | c0001 | t0002 | g0295 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01943 | hp1 | a0002 | c0002 | t0002 | g0228 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01943 | hp2 | a0001 | c0001 | t0003 | g0135 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01952 | hp1 | a0002 | c0002 | t0002 | g0211 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01952 | hp2 | a0001 | c0001 | t0003 | g0147 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01978 | hp1 | a0002 | c0024 | t0002 | g0219 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01978 | hp2 | a0001 | c0001 | t0003 | g0190 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01981 | hp1 | a0001 | c0001 | t0003 | g0117 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01981 | hp2 | a0003 | c0008 | t0001 | g0050 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0131 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01993 | hp2 | a0001 | c0001 | t0002 | g0268 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02004 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02004 | hp2 | a0001 | c0001 | t0003 | g0148 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02015 | hp1 | a0001 | c0001 | t0002 | g0261 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02040 | hp1 | a0002 | c0002 | t0002 | g0229 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02040 | hp2 | a0001 | c0001 | t0002 | g0286 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02055 | hp1 | a0001 | c0001 | t0004 | g0134 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02055 | hp2 | a0002 | c0002 | t0002 | g0205 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02071 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02074 | hp1 | a0001 | c0001 | t0002 | g0247 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02074 | hp2 | a0001 | c0001 | t0003 | g0187 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02080 | hp1 | a0001 | c0001 | t0003 | g0113 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02080 | hp2 | a0002 | c0002 | t0002 | g0195 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02083 | hp1 | a0001 | c0001 | t0002 | g0262 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02083 | hp2 | a0002 | c0002 | t0001 | g0198 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02132 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02132 | hp2 | a0001 | c0001 | t0002 | g0256 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02135 | hp1 | a0004 | c0005 | t0003 | g0340 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02145 | hp2 | a0001 | c0001 | t0008 | g0095 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02148 | hp1 | a0002 | c0002 | t0002 | g0005 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02148 | hp2 | a0001 | c0003 | t0003 | g0073 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02155 | hp1 | a0001 | c0001 | t0003 | g0129 | EAS | CDX | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02155 | hp2 | a0001 | c0001 | t0002 | g0265 | EAS | CDX | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02165 | hp1 | a0001 | c0001 | t0002 | g0266 | EAS | CDX | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02165 | hp2 | a0001 | c0001 | t0003 | g0141 | EAS | CDX | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02257 | hp1 | a0001 | c0001 | t0005 | g0322 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0328 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0330 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02258 | hp2 | a0001 | c0001 | t0008 | g0011 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02280 | hp2 | a0001 | c0001 | t0006 | g0345 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02293 | hp1 | a0001 | c0001 | t0003 | g0098 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02293 | hp2 | a0002 | c0002 | t0002 | g0215 | AMR | PEL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02451 | hp1 | a0001 | c0004 | t0001 | g0298 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0316 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02523 | hp1 | a0001 | c0001 | t0002 | g0257 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02572 | hp1 | a0001 | c0001 | t0013 | g0297 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02572 | hp2 | a0001 | c0003 | t0004 | g0063 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02602 | hp1 | a0001 | c0001 | t0002 | g0270 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02602 | hp2 | a0003 | c0019 | t0003 | g0184 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02615 | hp1 | a0001 | c0004 | t0001 | g0300 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02615 | hp2 | a0001 | c0003 | t0004 | g0028 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0333 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02622 | hp2 | a0002 | c0002 | t0014 | g0341 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02630 | hp1 | a0002 | c0002 | t0002 | g0226 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0332 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02647 | hp1 | a0002 | c0002 | t0002 | g0058 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02647 | hp2 | a0001 | c0014 | t0001 | g0334 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02717 | hp1 | a0001 | c0004 | t0001 | g0296 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02717 | hp2 | a0001 | c0004 | t0001 | g0299 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02723 | hp1 | a0001 | c0004 | t0001 | g0305 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02735 | hp1 | a0001 | c0003 | t0001 | g0034 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0090 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02738 | hp1 | a0012 | c0009 | t0004 | g0067 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02738 | hp2 | a0001 | c0001 | t0003 | g0315 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02809 | hp2 | a0001 | c0003 | t0004 | g0068 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02818 | hp1 | a0001 | c0001 | t0005 | g0307 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02886 | hp1 | a0001 | c0003 | t0001 | g0056 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02886 | hp2 | a0002 | c0002 | t0002 | g0294 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0312 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02895 | hp2 | a0001 | c0001 | t0005 | g0015 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02896 | hp1 | a0001 | c0001 | t0001 | g0311 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02897 | hp1 | a0001 | c0001 | t0001 | g0326 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02897 | hp2 | a0001 | c0001 | t0005 | g0015 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02922 | hp1 | a0001 | c0004 | t0001 | g0302 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02922 | hp2 | a0001 | c0001 | t0006 | g0017 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0317 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0309 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02970 | hp2 | a0001 | c0003 | t0004 | g0029 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0331 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03017 | hp1 | a0001 | c0003 | t0001 | g0044 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03017 | hp2 | a0001 | c0001 | t0003 | g0161 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0319 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0214 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0314 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03098 | hp2 | a0001 | c0003 | t0004 | g0064 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03130 | hp1 | a0002 | c0002 | t0004 | g0212 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03130 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03139 | hp1 | a0001 | c0001 | t0001 | g0327 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0313 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03195 | hp1 | a0002 | c0002 | t0002 | g0216 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03195 | hp2 | a0001 | c0003 | t0001 | g0055 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03209 | hp1 | a0002 | c0002 | t0002 | g0203 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03209 | hp2 | a0001 | c0001 | t0001 | g0310 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0329 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0207 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03453 | hp2 | a0001 | c0003 | t0004 | g0060 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03486 | hp1 | a0002 | c0002 | t0002 | g0208 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03486 | hp2 | a0001 | c0001 | t0006 | g0017 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03491 | hp1 | a0001 | c0003 | t0001 | g0020 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03491 | hp2 | a0001 | c0001 | t0003 | g0122 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03492 | hp1 | a0001 | c0001 | t0003 | g0009 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03492 | hp2 | a0001 | c0003 | t0001 | g0043 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03516 | hp1 | a0001 | c0004 | t0001 | g0304 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03516 | hp2 | a0001 | c0001 | t0006 | g0348 | AFR | ESN | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03540 | hp1 | a0001 | c0001 | t0005 | g0308 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03540 | hp2 | a0001 | c0004 | t0001 | g0301 | AFR | GWD | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03579 | hp1 | a0002 | c0002 | t0002 | g0241 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03579 | hp2 | a0001 | c0001 | t0001 | g0074 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03654 | hp1 | a0001 | c0001 | t0003 | g0157 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03654 | hp2 | a0001 | c0003 | t0001 | g0051 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03688 | hp1 | a0001 | c0001 | t0003 | g0136 | SAS | STU | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03688 | hp2 | a0001 | c0018 | t0002 | g0188 | SAS | STU | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03710 | hp1 | a0001 | c0001 | t0003 | g0112 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03710 | hp2 | a0001 | c0001 | t0003 | g0130 | SAS | PJL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03831 | hp1 | a0002 | c0002 | t0002 | g0236 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03831 | hp2 | a0001 | c0001 | t0002 | g0290 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03834 | hp1 | a0005 | c0007 | t0002 | g0227 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03834 | hp2 | a0001 | c0003 | t0001 | g0040 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03942 | hp1 | a0001 | c0003 | t0001 | g0039 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03942 | hp2 | a0005 | c0007 | t0002 | g0223 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG04184 | hp1 | a0001 | c0001 | t0002 | g0183 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG04184 | hp2 | a0001 | c0003 | t0001 | g0023 | SAS | BEB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG04228 | hp1 | a0001 | c0001 | t0003 | g0009 | SAS | STU | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG04228 | hp2 | a0001 | c0001 | t0003 | g0318 | SAS | STU | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18522 | hp1 | a0001 | c0003 | t0009 | g0343 | AFR | YRI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18522 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | YRI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18612 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | CHB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18612 | hp2 | a0002 | c0002 | t0002 | g0239 | EAS | CHB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18747 | hp1 | a0001 | c0001 | t0002 | g0246 | EAS | CHB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | CHB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18906 | hp1 | a0001 | c0001 | t0008 | g0011 | AFR | YRI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18906 | hp2 | a0001 | c0001 | t0002 | g0243 | AFR | YRI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18939 | hp1 | a0001 | c0001 | t0002 | g0282 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18939 | hp2 | a0001 | c0001 | t0003 | g0118 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18940 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18940 | hp2 | a0001 | c0001 | t0003 | g0133 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18943 | hp1 | a0001 | c0001 | t0011 | g0089 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18943 | hp2 | a0006 | c0006 | t0002 | g0258 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18944 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18944 | hp2 | a0013 | c0013 | t0001 | g0145 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18945 | hp1 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18946 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18946 | hp2 | a0001 | c0001 | t0003 | g0121 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18948 | hp1 | a0001 | c0001 | t0002 | g0292 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18951 | hp1 | a0001 | c0001 | t0003 | g0176 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18951 | hp2 | a0001 | c0001 | t0002 | g0175 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18952 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18952 | hp2 | a0002 | c0002 | t0002 | g0209 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18956 | hp1 | a0001 | c0001 | t0007 | g0171 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18956 | hp2 | a0001 | c0001 | t0002 | g0280 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18959 | hp1 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18961 | hp1 | a0001 | c0001 | t0002 | g0287 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18962 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18962 | hp2 | a0001 | c0003 | t0001 | g0053 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18963 | hp1 | a0001 | c0001 | t0003 | g0132 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18963 | hp2 | a0001 | c0001 | t0002 | g0283 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18964 | hp1 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18964 | hp2 | a0001 | c0001 | t0002 | g0281 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18965 | hp1 | a0001 | c0001 | t0002 | g0245 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18965 | hp2 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18969 | hp1 | a0002 | c0002 | t0002 | g0193 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18969 | hp2 | a0001 | c0001 | t0003 | g0127 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18971 | hp1 | a0002 | c0002 | t0002 | g0196 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18972 | hp1 | a0001 | c0001 | t0002 | g0253 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18972 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18973 | hp1 | a0001 | c0001 | t0002 | g0251 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18975 | hp1 | a0002 | c0002 | t0002 | g0234 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18975 | hp2 | a0001 | c0001 | t0002 | g0248 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18977 | hp1 | a0001 | c0003 | t0001 | g0022 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18977 | hp2 | a0001 | c0001 | t0003 | g0081 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18978 | hp1 | a0002 | c0002 | t0002 | g0220 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18978 | hp2 | a0001 | c0001 | t0003 | g0173 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18979 | hp2 | a0001 | c0001 | t0010 | g0018 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18980 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18980 | hp2 | a0004 | c0005 | t0003 | g0102 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18982 | hp2 | a0002 | c0002 | t0002 | g0192 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18983 | hp1 | a0001 | c0001 | t0003 | g0154 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18983 | hp2 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18984 | hp1 | a0001 | c0001 | t0002 | g0274 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18984 | hp2 | a0014 | c0011 | t0003 | g0179 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18985 | hp1 | a0002 | c0002 | t0002 | g0235 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18985 | hp2 | a0002 | c0002 | t0002 | g0201 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18986 | hp1 | a0002 | c0002 | t0002 | g0194 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18986 | hp2 | a0001 | c0001 | t0002 | g0285 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18987 | hp1 | a0001 | c0001 | t0002 | g0250 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18987 | hp2 | a0001 | c0003 | t0001 | g0038 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18988 | hp1 | a0002 | c0002 | t0003 | g0019 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18988 | hp2 | a0002 | c0002 | t0002 | g0217 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18989 | hp1 | a0006 | c0006 | t0002 | g0254 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18989 | hp2 | a0004 | c0005 | t0003 | g0111 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18990 | hp1 | a0001 | c0001 | t0002 | g0271 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18990 | hp2 | a0001 | c0001 | t0002 | g0267 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18992 | hp1 | a0001 | c0001 | t0003 | g0116 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18992 | hp2 | a0001 | c0001 | t0007 | g0242 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18993 | hp1 | a0001 | c0001 | t0002 | g0279 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18993 | hp2 | a0002 | c0002 | t0003 | g0200 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18998 | hp1 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18999 | hp1 | a0001 | c0001 | t0001 | g0339 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18999 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19000 | hp1 | a0002 | c0002 | t0002 | g0191 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19000 | hp2 | a0001 | c0001 | t0003 | g0174 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19002 | hp1 | a0001 | c0001 | t0003 | g0181 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19002 | hp2 | a0001 | c0001 | t0002 | g0276 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19004 | hp1 | a0001 | c0001 | t0003 | g0138 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19005 | hp1 | a0001 | c0001 | t0003 | g0008 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19006 | hp1 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19006 | hp2 | a0001 | c0001 | t0002 | g0284 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19007 | hp2 | a0001 | c0001 | t0003 | g0336 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19009 | hp2 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19010 | hp1 | a0001 | c0001 | t0002 | g0263 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19010 | hp2 | a0001 | c0001 | t0003 | g0109 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19030 | hp1 | a0001 | c0001 | t0006 | g0347 | AFR | LWK | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19030 | hp2 | a0001 | c0003 | t0004 | g0062 | AFR | LWK | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0325 | AFR | LWK | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19043 | hp2 | a0015 | c0012 | t0002 | g0213 | AFR | LWK | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19056 | hp1 | a0001 | c0001 | t0002 | g0275 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19056 | hp2 | a0001 | c0003 | t0001 | g0045 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19057 | hp1 | a0001 | c0001 | t0003 | g0110 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19057 | hp2 | a0001 | c0001 | t0003 | g0128 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19062 | hp1 | a0001 | c0001 | t0003 | g0170 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19062 | hp2 | a0001 | c0001 | t0002 | g0278 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19063 | hp1 | a0001 | c0001 | t0003 | g0096 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19063 | hp2 | a0002 | c0002 | t0002 | g0233 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19066 | hp2 | a0016 | c0023 | t0002 | g0197 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19068 | hp1 | a0001 | c0001 | t0002 | g0289 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19068 | hp2 | a0001 | c0001 | t0003 | g0156 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19070 | hp1 | a0001 | c0001 | t0002 | g0260 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19070 | hp2 | a0001 | c0003 | t0001 | g0027 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19072 | hp1 | a0001 | c0001 | t0002 | g0293 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19072 | hp2 | a0001 | c0003 | t0001 | g0035 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19074 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19075 | hp1 | a0001 | c0003 | t0001 | g0033 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19075 | hp2 | a0002 | c0002 | t0002 | g0199 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19078 | hp1 | a0001 | c0001 | t0002 | g0269 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19078 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19079 | hp1 | a0001 | c0003 | t0001 | g0047 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19079 | hp2 | a0001 | c0001 | t0002 | g0272 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19084 | hp1 | a0001 | c0001 | t0002 | g0259 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19084 | hp2 | a0001 | c0001 | t0007 | g0099 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19085 | hp1 | a0001 | c0001 | t0003 | g0146 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19085 | hp2 | a0002 | c0002 | t0002 | g0238 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19089 | hp1 | a0001 | c0001 | t0002 | g0277 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19089 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19090 | hp2 | a0001 | c0001 | t0003 | g0139 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19091 | hp1 | a0001 | c0001 | t0007 | g0335 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19091 | hp2 | a0001 | c0001 | t0002 | g0273 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19240 | hp1 | a0002 | c0002 | t0001 | g0240 | AFR | YRI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA19240 | hp2 | a0001 | c0004 | t0001 | g0303 | AFR | YRI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA20752 | hp1 | a0002 | c0002 | t0002 | g0218 | EUR | TSI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA20752 | hp2 | a0001 | c0001 | t0003 | g0123 | EUR | TSI | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA20905 | hp1 | a0017 | c0022 | t0001 | g0041 | SAS | GIH | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA20905 | hp2 | a0001 | c0001 | t0002 | g0249 | SAS | GIH | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01123 | hp1 | a0002 | c0002 | t0002 | g0232 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG01123 | hp2 | a0001 | c0001 | t0003 | g0149 | AMR | CLM | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02109 | hp1 | a0001 | c0003 | t0004 | g0030 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02109 | hp2 | a0011 | c0015 | t0012 | g0072 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02486 | hp1 | a0001 | c0003 | t0001 | g0054 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02486 | hp2 | a0001 | c0001 | t0005 | g0323 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02559 | hp1 | a0001 | c0001 | t0002 | g0210 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG02559 | hp2 | a0002 | c0002 | t0002 | g0230 | AFR | ACB | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03471 | hp1 | a0001 | c0003 | t0004 | g0065 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG03471 | hp2 | a0001 | c0001 | t0002 | g0206 | AFR | MSL | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG06807 | hp1 | a0001 | c0001 | t0005 | g0320 | AFR | USA | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
HG06807 | hp2 | a0001 | c0003 | t0004 | g0066 | AFR | USA | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18955 | hp1 | a0001 | c0001 | t0002 | g0255 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA18955 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | USA | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA20300 | hp2 | a0001 | c0010 | t0001 | g0108 | AFR | USA | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA21309 | hp1 | a0002 | c0002 | t0002 | g0204 | AFR | LWK | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
NA21309 | hp2 | a0001 | c0003 | t0001 | g0032 | AFR | LWK | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
homoSapiens | chm13v2 | a0001 | c0003 | t0001 | g0024 | REF | REF | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
homoSapiens | grch38p0 | a0001 | c0003 | t0001 | g0057 | REF | REF | HPS5_chr11_18273676_18327140 | HPS5 | chr11 | 18273676 | 18327140 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:18281986 | G | A | 1 | a0009 | 1 | HG01516.hp2 | missense_variant | MODERATE | c.3293C>T | p.Thr1098Ile | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/23 | 3537/4840 | 3293/3390 | 1098/1129 | chr11 | 18281986 | |||
chr11:18282050 | G | A | 1 | a0006 | 2 | NA18943.hp2 NA18989.hp1 |
missense_variant | MODERATE | c.3229C>T | p.Arg1077Trp | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/23 | 3473/4840 | 3229/3390 | 1077/1129 | chr11 | 18282050 | |||
chr11:18282062 | T | C | 1 | a0015 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.3217A>G | p.Met1073Val | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/23 | 3461/4840 | 3217/3390 | 1073/1129 | chr11 | 18282062 | |||
chr11:18283807 | C | T | 1 | a0008 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.3046G>A | p.Glu1016Lys | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/23 | 3290/4840 | 3046/3390 | 1016/1129 | chr11 | 18283807 | |||
chr11:18283808 | C | T | 1 | a0007 | 1 | HG00741.hp1 | missense_variant | MODERATE | c.3045G>A | p.Met1015Ile | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/23 | 3289/4840 | 3045/3390 | 1015/1129 | chr11 | 18283808 | |||
chr11:18287917 | G | A | 1 | a0003 | 3 | HG01934.hp1 HG01981.hp2 HG02602.hp2 |
missense_variant | MODERATE | c.2537C>T | p.Pro846Leu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 17/23 | 2781/4840 | 2537/3390 | 846/1129 | chr11 | 18287917 | |||
chr11:18291700 | C | T | 1 | a0011 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.2182G>A | p.Ala728Thr | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/23 | 2426/4840 | 2182/3390 | 728/1129 | chr11 | 18291700 | |||
chr11:18291982 | C | T | 1 | a0004 | 3 | HG02135.hp1 NA18980.hp2 NA18989.hp2 |
missense_variant | MODERATE | c.1900G>A | p.Glu634Lys | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/23 | 2144/4840 | 1900/3390 | 634/1129 | chr11 | 18291982 | |||
chr11:18295050 | G | A | 1 | a0010 | 1 | HG01884.hp1 | missense_variant | MODERATE | c.1754C>T | p.Ser585Leu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/23 | 1998/4840 | 1754/3390 | 585/1129 | chr11 | 18295050 | |||
chr11:18296097 | C | T | 1 | a0013 | 1 | NA18944.hp2 | missense_variant | MODERATE | c.1536G>A | p.Met512Ile | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 13/23 | 1780/4840 | 1536/3390 | 512/1129 | chr11 | 18296097 | |||
chr11:18296833 | A | T | 1 | a0014 | 1 | NA18984.hp2 | missense_variant | MODERATE | c.1475T>A | p.Leu492Gln | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/23 | 1719/4840 | 1475/3390 | 492/1129 | chr11 | 18296833 | |||
chr11:18297633 | G | T | 3 | a0002 a0005 a0016 |
59 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show |
missense_variant | MODERATE | c.1249C>A | p.Leu417Met | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 11/23 | 1493/4840 | 1249/3390 | 417/1129 | chr11 | 18297633 | |||
chr11:18298919 | T | C | 1 | a0017 | 1 | NA20905.hp1 | missense_variant | MODERATE | c.1037A>G | p.Asn346Ser | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/23 | 1281/4840 | 1037/3390 | 346/1129 | chr11 | 18298919 | |||
chr11:18300855 | G | C | 1 | a0005 | 2 | HG03834.hp1 HG03942.hp2 |
missense_variant | MODERATE | c.958C>G | p.Gln320Glu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/23 | 1202/4840 | 958/3390 | 320/1129 | chr11 | 18300855 | |||
chr11:18310871 | T | C | 1 | a0016 | 1 | NA19066.hp2 | missense_variant | MODERATE | c.347A>G | p.Tyr116Cys | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/23 | 591/4840 | 347/3390 | 116/1129 | chr11 | 18310871 | |||
chr11:18310873 | C | T | 1 | a0012 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.345G>A | p.Met115Ile | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/23 | 589/4840 | 345/3390 | 115/1129 | chr11 | 18310873 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:18282015 | G | A | 1 | a0001c0018 | 1 | HG03688.hp2 | synonymous_variant | LOW | c.3264C>T | p.Ala1088Ala | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/23 | 3508/4840 | 3264/3390 | 1088/1129 | chr11 | 18282015 | |||
chr11:18291773 | A | G | 1 | a0001c0014 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.2109T>C | p.Asp703Asp | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/23 | 2353/4840 | 2109/3390 | 703/1129 | chr11 | 18291773 | |||
chr11:18296832 | C | T | 1 | a0015c0012 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1476G>A | p.Leu492Leu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/23 | 1720/4840 | 1476/3390 | 492/1129 | chr11 | 18296832 | |||
chr11:18306137 | G | T | 19 | a0001c0001 a0001c0004 a0001c0010 others(16): Show |
316 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
splice_region_variant&synonymous_variant | LOW | c.822C>A | p.Leu274Leu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/23 | 1066/4840 | 822/3390 | 274/1129 | chr11 | 18306137 | |||
chr11:18308960 | C | T | 1 | a0001c0010 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.597G>A | p.Leu199Leu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/23 | 841/4840 | 597/3390 | 199/1129 | chr11 | 18308960 | |||
chr11:18310909 | T | C | 1 | a0002c0024 | 1 | HG01978.hp1 | synonymous_variant | LOW | c.309A>G | p.Glu103Glu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/23 | 553/4840 | 309/3390 | 103/1129 | chr11 | 18310909 | |||
chr11:18311994 | A | G | 1 | a0001c0004 | 9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
synonymous_variant | LOW | c.139T>C | p.Leu47Leu | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/23 | 383/4840 | 139/3390 | 47/1129 | chr11 | 18311994 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:18278691 | A | G | 1 | a0011c0015t0012 | 1 | HG02109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1191T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 1191 | chr11 | 18278691 | ||||||
chr11:18278814 | A | T | 2 | a0001c0001t0005 a0001c0001t0008 |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1068T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 1068 | chr11 | 18278814 | ||||||
chr11:18279078 | G | A | 5 | a0001c0001t0004 a0001c0003t0004 a0001c0003t0009 others(2): Show |
23 | HG00099.hp1 HG00323.hp2 HG01074.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*804C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 804 | chr11 | 18279078 | ||||||
chr11:18279180 | T | A | 1 | a0001c0001t0005 | 9 | HG01070.hp2 HG01433.hp2 HG02257.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*702A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 702 | chr11 | 18279180 | ||||||
chr11:18279407 | G | A | 14 | a0001c0001t0002 a0001c0001t0004 a0001c0003t0004 others(11): Show |
136 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(133): Show |
3_prime_UTR_variant | MODIFIER | c.*475C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 475 | chr11 | 18279407 | ||||||
chr11:18279418 | G | T | 8 | a0001c0001t0003 a0001c0003t0003 a0002c0002t0003 others(5): Show |
89 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(86): Show |
3_prime_UTR_variant | MODIFIER | c.*464C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 464 | chr11 | 18279418 | ||||||
chr11:18279439 | A | T | 2 | a0001c0001t0005 a0001c0001t0008 |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*443T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 443 | chr11 | 18279439 | ||||||
chr11:18279520 | C | T | 1 | a0001c0001t0007 | 5 | HG00609.hp2 NA18956.hp1 NA18992.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*362G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 362 | chr11 | 18279520 | ||||||
chr11:18279582 | A | G | 14 | a0001c0001t0002 a0001c0001t0004 a0001c0003t0004 others(11): Show |
136 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(133): Show |
3_prime_UTR_variant | MODIFIER | c.*300T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 300 | chr11 | 18279582 | ||||||
chr11:18279583 | G | A | 14 | a0001c0001t0002 a0001c0001t0004 a0001c0003t0004 others(11): Show |
136 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(133): Show |
3_prime_UTR_variant | MODIFIER | c.*299C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 299 | chr11 | 18279583 | ||||||
chr11:18279606 | A | C | 1 | a0001c0001t0011 | 1 | NA18943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*276T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 276 | chr11 | 18279606 | ||||||
chr11:18279827 | G | A | 1 | a0001c0001t0013 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*55C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 23/23 | 55 | chr11 | 18279827 | ||||||
chr11:18321971 | T | C | 1 | a0002c0002t0014 | 1 | HG02622.hp2 | 5_prime_UTR_variant | MODIFIER | c.-75A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/23 | 4113 | chr11 | 18321971 | ||||||
chr11:18321978 | A | C | 1 | a0001c0001t0010 | 1 | NA18979.hp2 | 5_prime_UTR_variant | MODIFIER | c.-82T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/23 | 4120 | chr11 | 18321978 | ||||||
chr11:18321987 | G | C | 1 | a0001c0003t0009 | 3 | HG01243.hp2 HG01891.hp2 NA18522.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-91C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/23 | chr11 | 18321987 | |||||||
chr11:18322038 | G | A | 2 | a0001c0001t0006 a0010c0020t0006 |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-142C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/23 | chr11 | 18322038 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:18280058 | T | C | 137 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 others(134): Show |
152 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.3330-116A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280058 | |||||||
chr11:18280110 | A | C | 2 | a0001c0001t0007g0125 a0001c0001t0007g0242 |
2 | HG00609.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.3330-168T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280110 | |||||||
chr11:18280286 | C | T | 2 | a0001c0001t0003g0118 a0001c0001t0003g0128 |
2 | NA18939.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.3330-344G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280286 | |||||||
chr11:18280293 | T | C | 125 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 others(122): Show |
138 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.3330-351A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280293 | |||||||
chr11:18280341 | C | G | 2 | a0001c0001t0001g0328 a0001c0001t0001g0329 |
2 | HG02257.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3330-399G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280341 | |||||||
chr11:18280367 | A | G | 2 | a0001c0003t0001g0021 a0001c0003t0001g0026 |
2 | HG01106.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.3330-425T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280367 | |||||||
chr11:18280368 | A | G | 34 | a0002c0002t0002g0005 a0002c0002t0002g0058 a0002c0002t0002g0201 others(31): Show |
36 | HG00423.hp2 HG00639.hp2 HG01123.hp1 others(33): Show |
intron_variant | MODIFIER | c.3330-426T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280368 | |||||||
chr11:18280513 | T | C | 1 | a0015c0012t0002g0213 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3330-571A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280513 | |||||||
chr11:18280794 | G | A | 1 | a0001c0003t0001g0049 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3330-852C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280794 | |||||||
chr11:18280934 | A | G | 2 | a0002c0002t0002g0232 a0002c0024t0002g0219 |
2 | HG01123.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.3330-992T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280934 | |||||||
chr11:18280941 | AG | A | 101 | a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0090 others(98): Show |
111 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.3330-1000delC | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280941 | |||||||
chr11:18280979 | AATACCAC others(10): Show |
A | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3329+954_3329+970d others(19): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280979 | |||||||
chr11:18280999 | T | C | 11 | a0001c0001t0005g0015 a0001c0001t0005g0306 a0001c0001t0005g0307 others(8): Show |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.3329+951A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18280999 | |||||||
chr11:18281082 | A | AT | 69 | a0001c0001t0001g0097 a0001c0001t0001g0164 a0001c0001t0002g0012 others(66): Show |
75 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.3329+867dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281082 | |||||||
chr11:18281082 | AT | A | 6 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0338 others(3): Show |
6 | HG00642.hp2 HG02622.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.3329+867delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281082 | |||||||
chr11:18281254 | C | T | 343 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(340): Show |
367 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
intron_variant | MODIFIER | c.3329+696G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281254 | |||||||
chr11:18281255 | A | AT | 41 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(38): Show |
42 | HG00597.hp1 HG00609.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.3329+694dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281255 | |||||||
chr11:18281255 | A | T | 1 | a0001c0001t0005g0322 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3329+695T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281255 | |||||||
chr11:18281255 | AT | A | 7 | a0001c0001t0001g0076 a0001c0001t0002g0250 a0001c0001t0006g0017 others(4): Show |
8 | HG01167.hp2 HG01884.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.3329+694delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281255 | |||||||
chr11:18281258 | T | A | 34 | a0002c0002t0002g0005 a0002c0002t0002g0058 a0002c0002t0002g0201 others(31): Show |
36 | HG00423.hp2 HG00639.hp2 HG01123.hp1 others(33): Show |
intron_variant | MODIFIER | c.3329+692A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281258 | |||||||
chr11:18281273 | T | A | 1 | a0001c0001t0002g0265 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3329+677A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281273 | |||||||
chr11:18281314 | G | A | 6 | a0001c0001t0001g0076 a0001c0001t0006g0017 a0001c0001t0006g0345 others(3): Show |
7 | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.3329+636C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281314 | |||||||
chr11:18281317 | C | T | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3329+633G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281317 | |||||||
chr11:18281383 | C | G | 1 | a0001c0001t0006g0348 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3329+567G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281383 | |||||||
chr11:18281384 | G | A | 1 | a0001c0001t0002g0250 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.3329+566C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281384 | |||||||
chr11:18281385 | T | C | 1 | a0001c0001t0001g0079 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3329+565A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281385 | |||||||
chr11:18281421 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.3329+529C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281421 | |||||||
chr11:18281493 | G | A | 1 | a0002c0002t0002g0203 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3329+457C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281493 | |||||||
chr11:18281558 | C | T | 1 | a0001c0001t0001g0207 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3329+392G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281558 | |||||||
chr11:18281575 | CT | C | 263 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 others(260): Show |
286 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
intron_variant | MODIFIER | c.3329+374delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281575 | |||||||
chr11:18281622 | T | C | 101 | a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0090 others(98): Show |
111 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.3329+328A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281622 | |||||||
chr11:18281695 | C | T | 1 | a0001c0003t0001g0053 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.3329+255G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281695 | |||||||
chr11:18281805 | C | T | 5 | a0001c0001t0007g0099 a0001c0001t0007g0125 a0001c0001t0007g0171 others(2): Show |
5 | HG00609.hp2 NA18956.hp1 NA18992.hp2 others(2): Show |
intron_variant | MODIFIER | c.3329+145G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281805 | |||||||
chr11:18281857 | C | T | 101 | a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0090 others(98): Show |
111 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.3329+93G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281857 | |||||||
chr11:18281882 | C | T | 2 | a0002c0002t0002g0191 a0002c0002t0002g0192 |
2 | NA18982.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.3329+68G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 22/22 | chr11 | 18281882 | |||||||
chr11:18282431 | C | CT | 43 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0207 others(40): Show |
48 | HG00423.hp2 HG00639.hp2 HG01123.hp1 others(45): Show |
intron_variant | MODIFIER | c.3059-212dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18282431 | |||||||
chr11:18282587 | C | T | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.3059-367G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18282587 | |||||||
chr11:18282747 | T | C | 1 | a0001c0001t0003g0135 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.3059-527A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18282747 | |||||||
chr11:18282854 | G | A | 18 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0313 others(15): Show |
21 | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(18): Show |
intron_variant | MODIFIER | c.3059-634C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18282854 | |||||||
chr11:18283125 | T | A | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3058+670A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283125 | |||||||
chr11:18283188 | G | A | 1 | a0001c0001t0003g0133 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.3058+607C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283188 | |||||||
chr11:18283193 | G | C | 5 | a0001c0001t0001g0014 a0001c0001t0001g0309 a0001c0001t0001g0310 others(2): Show |
6 | HG02895.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.3058+602C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283193 | |||||||
chr11:18283328 | T | TA | 8 | a0001c0001t0004g0134 a0001c0001t0004g0159 a0001c0001t0004g0189 others(5): Show |
8 | HG00099.hp1 HG00323.hp2 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.3058+466dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283328 | |||||||
chr11:18283328 | TA | T | 77 | a0001c0001t0001g0083 a0001c0001t0001g0311 a0001c0001t0001g0325 others(74): Show |
83 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.3058+466delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283328 | |||||||
chr11:18283511 | T | TAAAACAA others(2782): Show |
1 | a0002c0002t0002g0224 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3058+283_3058+284i others(2791): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283511 | |||||||
chr11:18283511 | T | TAAAACAA others(2774): Show |
1 | a0002c0002t0002g0218 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.3058+283_3058+284i others(2783): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283511 | |||||||
chr11:18283511 | T | TAAAACAA others(2800): Show |
1 | a0002c0002t0002g0215 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.3058+283_3058+284i others(2809): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283511 | |||||||
chr11:18283511 | T | TAAAACAA others(2801): Show |
1 | a0002c0002t0002g0230 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3058+283_3058+284i others(2810): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283511 | |||||||
chr11:18283712 | G | C | 1 | a0006c0006t0002g0254 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.3058+83C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283712 | |||||||
chr11:18283786 | T | C | 35 | a0001c0001t0004g0134 a0001c0001t0004g0159 a0001c0001t0004g0189 others(32): Show |
37 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(34): Show |
intron_variant | MODIFIER | c.3058+9A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | 18283786 | |||||||
chr11:18284000 | C | T | 1 | a0001c0001t0003g0182 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2952-99G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284000 | |||||||
chr11:18284061 | C | T | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2952-160G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284061 | |||||||
chr11:18284076 | A | G | 1 | a0001c0001t0001g0082 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.2952-175T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284076 | |||||||
chr11:18284138 | A | G | 2 | a0001c0001t0003g0106 a0001c0001t0003g0115 |
2 | HG01168.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.2952-237T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284138 | |||||||
chr11:18284167 | G | GA | 8 | a0001c0001t0002g0260 a0001c0001t0002g0275 a0001c0001t0002g0284 others(5): Show |
8 | HG01978.hp1 HG02055.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.2952-267dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284167 | |||||||
chr11:18284174 | A | C | 1 | a0001c0001t0001g0310 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2952-273T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284174 | |||||||
chr11:18284210 | G | C | 23 | a0001c0001t0004g0134 a0001c0001t0004g0159 a0001c0001t0004g0189 others(20): Show |
23 | HG00099.hp1 HG00323.hp2 HG01074.hp2 others(20): Show |
intron_variant | MODIFIER | c.2952-309C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284210 | |||||||
chr11:18284725 | G | A | 79 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0008 others(76): Show |
87 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.2951+621C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284725 | |||||||
chr11:18284852 | G | A | 94 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0175 others(91): Show |
100 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(97): Show |
intron_variant | MODIFIER | c.2951+494C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18284852 | |||||||
chr11:18285142 | T | TA | 14 | a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 others(11): Show |
14 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.2951+203dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18285142 | |||||||
chr11:18285142 | TA | T | 9 | a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0168 others(6): Show |
9 | HG03041.hp2 NA18959.hp2 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.2951+203delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18285142 | |||||||
chr11:18285288 | A | C | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2951+58T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 20/22 | chr11 | 18285288 | |||||||
chr11:18285498 | T | C | 59 | a0001c0001t0001g0207 a0001c0001t0002g0012 a0001c0001t0002g0013 others(56): Show |
61 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.2838-39A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18285498 | |||||||
chr11:18285598 | A | C | 1 | a0017c0022t0001g0041 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2838-139T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18285598 | |||||||
chr11:18285739 | CT | C | 10 | a0001c0001t0005g0323 a0001c0004t0001g0296 a0001c0004t0001g0298 others(7): Show |
10 | HG02451.hp1 HG02486.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.2838-281delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18285739 | |||||||
chr11:18285881 | A | C | 1 | a0001c0001t0003g0182 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2838-422T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18285881 | |||||||
chr11:18286028 | C | A | 275 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(272): Show |
297 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
intron_variant | MODIFIER | c.2837+563G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286028 | |||||||
chr11:18286371 | C | G | 2 | a0002c0002t0002g0058 a0002c0002t0002g0294 |
2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2837+220G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286371 | |||||||
chr11:18286427 | C | T | 1 | a0004c0005t0003g0111 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2837+164G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286427 | |||||||
chr11:18286452 | T | TA | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2837+138dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286452 | |||||||
chr11:18286493 | G | T | 7 | a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 others(4): Show |
7 | HG01496.hp1 HG02572.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.2837+98C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286493 | |||||||
chr11:18286521 | G | A | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2837+70C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286521 | |||||||
chr11:18286534 | C | A | 10 | a0001c0001t0003g0009 a0001c0001t0003g0117 a0001c0001t0003g0122 others(7): Show |
11 | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(8): Show |
intron_variant | MODIFIER | c.2837+57G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286534 | |||||||
chr11:18286541 | C | CA | 12 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0325 others(9): Show |
15 | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.2837+49dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286541 | |||||||
chr11:18286547 | A | C | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.2837+44T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 19/22 | chr11 | 18286547 | |||||||
chr11:18286877 | A | G | 1 | a0001c0001t0006g0345 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2718-167T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18286877 | |||||||
chr11:18286910 | G | GA | 146 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(143): Show |
157 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
intron_variant | MODIFIER | c.2718-201dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18286910 | |||||||
chr11:18287015 | A | G | 1 | a0001c0001t0002g0265 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2718-305T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18287015 | |||||||
chr11:18287065 | T | C | 53 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(50): Show |
59 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.2718-355A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18287065 | |||||||
chr11:18287150 | C | T | 1 | a0001c0003t0004g0069 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2717+385G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18287150 | |||||||
chr11:18287196 | G | A | 1 | a0001c0003t0001g0022 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.2717+339C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18287196 | |||||||
chr11:18287509 | G | A | 1 | a0001c0001t0003g0115 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.2717+26C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 18/22 | chr11 | 18287509 | |||||||
chr11:18287704 | C | G | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.2562-14G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 17/22 | chr11 | 18287704 | |||||||
chr11:18288021 | A | G | 2 | a0001c0001t0005g0307 a0001c0001t0005g0308 |
2 | HG02818.hp1 HG03540.hp1 |
splice_region_variant&intron_variant | LOW | c.2441-8T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288021 | |||||||
chr11:18288153 | A | G | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.2441-140T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288153 | |||||||
chr11:18288167 | TAAA | T | 53 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(50): Show |
59 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.2441-157_2441-155d others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288167 | |||||||
chr11:18288512 | G | A | 344 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(341): Show |
368 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(365): Show |
intron_variant | MODIFIER | c.2441-499C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288512 | |||||||
chr11:18288596 | TA | T | 54 | a0001c0001t0003g0113 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.2441-584delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288596 | |||||||
chr11:18288734 | C | CTCTG | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.2441-722_2441-721i others(6): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288734 | |||||||
chr11:18288734 | C | CTG | 20 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0003g0096 others(17): Show |
22 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(19): Show |
intron_variant | MODIFIER | c.2441-723_2441-722d others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288734 | |||||||
chr11:18288734 | C | CTGTG | 262 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(259): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.2441-725_2441-722d others(6): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288734 | |||||||
chr11:18288734 | C | CTGTGTG | 7 | a0001c0001t0001g0084 a0001c0001t0002g0243 a0001c0001t0003g0086 others(4): Show |
7 | HG02615.hp2 HG03710.hp1 HG03710.hp2 others(4): Show |
intron_variant | MODIFIER | c.2441-727_2441-722d others(8): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288734 | |||||||
chr11:18288734 | CTGTG | C | 3 | a0001c0003t0009g0342 a0001c0003t0009g0343 a0001c0003t0009g0344 |
3 | HG01243.hp2 HG01891.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2441-725_2441-722d others(6): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288734 | |||||||
chr11:18288765 | C | A | 1 | a0001c0001t0001g0167 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2441-752G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288765 | |||||||
chr11:18288865 | C | T | 1 | a0015c0012t0002g0213 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2441-852G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288865 | |||||||
chr11:18288902 | T | C | 161 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(158): Show |
175 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
intron_variant | MODIFIER | c.2441-889A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18288902 | |||||||
chr11:18289033 | C | T | 3 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0166 |
3 | HG01109.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2441-1020G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289033 | |||||||
chr11:18289120 | A | G | 1 | a0001c0001t0001g0214 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2441-1107T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289120 | |||||||
chr11:18289124 | G | C | 7 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(4): Show |
7 | HG01070.hp2 HG02145.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.2441-1111C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289124 | |||||||
chr11:18289198 | T | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.2441-1185A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289198 | |||||||
chr11:18289303 | C | T | 2 | a0001c0001t0006g0017 a0001c0001t0006g0348 |
3 | HG02922.hp2 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2441-1290G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289303 | |||||||
chr11:18289533 | A | G | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2441-1520T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289533 | |||||||
chr11:18289579 | G | GA | 59 | a0001c0001t0001g0014 a0001c0001t0001g0214 a0001c0001t0001g0309 others(56): Show |
66 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(63): Show |
intron_variant | MODIFIER | c.2441-1567dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18289579 | |||||||
chr11:18290060 | G | A | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.2440+1382C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18290060 | |||||||
chr11:18290154 | T | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.2440+1288A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18290154 | |||||||
chr11:18290402 | C | A | 2 | a0001c0003t0001g0023 a0001c0003t0001g0025 |
2 | HG00323.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.2440+1040G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18290402 | |||||||
chr11:18290753 | T | C | 1 | a0015c0012t0002g0213 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2440+689A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18290753 | |||||||
chr11:18290787 | G | A | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2440+655C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18290787 | |||||||
chr11:18290863 | A | G | 1 | a0001c0001t0002g0253 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.2440+579T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18290863 | |||||||
chr11:18291090 | C | T | 137 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(134): Show |
148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.2440+352G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18291090 | |||||||
chr11:18291247 | C | A | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2440+195G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18291247 | |||||||
chr11:18291359 | CT | C | 5 | a0001c0001t0002g0183 a0001c0001t0003g0110 a0001c0001t0003g0128 others(2): Show |
5 | HG02155.hp1 HG02165.hp2 HG04184.hp1 others(2): Show |
intron_variant | MODIFIER | c.2440+82delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18291359 | |||||||
chr11:18291391 | A | G | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.2440+51T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18291391 | |||||||
chr11:18291406 | G | A | 238 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(235): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
intron_variant | MODIFIER | c.2440+36C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 16/22 | chr11 | 18291406 | |||||||
chr11:18292094 | T | G | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1863-75A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292094 | |||||||
chr11:18292190 | T | G | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.1863-171A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292190 | |||||||
chr11:18292209 | CT | C | 234 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(231): Show |
251 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show |
intron_variant | MODIFIER | c.1863-191delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292209 | |||||||
chr11:18292350 | T | G | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1863-331A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292350 | |||||||
chr11:18292364 | A | C | 292 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(289): Show |
316 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
intron_variant | MODIFIER | c.1863-345T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292364 | |||||||
chr11:18292409 | G | A | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1863-390C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292409 | |||||||
chr11:18292486 | G | A | 1 | a0001c0001t0003g0144 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1862+413C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292486 | |||||||
chr11:18292789 | A | G | 1 | a0002c0002t0002g0239 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1862+110T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292789 | |||||||
chr11:18292812 | G | A | 3 | a0001c0001t0003g0100 a0001c0001t0003g0130 a0001c0001t0003g0178 |
3 | HG00099.hp2 HG00738.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.1862+87C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292812 | |||||||
chr11:18292848 | T | C | 3 | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 |
3 | NA18959.hp2 NA19066.hp1 NA19078.hp2 |
intron_variant | MODIFIER | c.1862+51A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292848 | |||||||
chr11:18292882 | T | G | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.1862+17A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 15/22 | chr11 | 18292882 | |||||||
chr11:18292989 | G | A | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.1785-13C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18292989 | |||||||
chr11:18293032 | C | CTT | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.1785-58_1785-57dup others(2): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293032 | |||||||
chr11:18293113 | C | T | 1 | a0001c0001t0003g0116 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.1785-137G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293113 | |||||||
chr11:18293204 | TG | T | 12 | a0002c0002t0001g0198 a0002c0002t0002g0003 a0002c0002t0002g0004 others(9): Show |
16 | HG02080.hp2 HG02083.hp2 NA18940.hp1 others(13): Show |
intron_variant | MODIFIER | c.1785-229delC | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293204 | |||||||
chr11:18293238 | C | T | 2 | a0001c0001t0005g0307 a0001c0001t0005g0308 |
2 | HG02818.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1785-262G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293238 | |||||||
chr11:18293318 | A | G | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.1785-342T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293318 | |||||||
chr11:18293406 | T | C | 3 | a0001c0001t0005g0306 a0001c0001t0005g0320 a0001c0001t0005g0321 |
3 | HG01070.hp2 HG01433.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1785-430A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293406 | |||||||
chr11:18293439 | G | A | 5 | a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 others(2): Show |
5 | HG02451.hp2 HG02965.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1785-463C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293439 | |||||||
chr11:18293489 | G | A | 1 | a0001c0001t0003g0318 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1785-513C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293489 | |||||||
chr11:18293610 | A | G | 1 | a0001c0003t0001g0046 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1785-634T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293610 | |||||||
chr11:18293629 | A | G | 3 | a0001c0001t0006g0017 a0001c0001t0006g0347 a0001c0001t0006g0348 |
4 | HG02922.hp2 HG03486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1785-653T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293629 | |||||||
chr11:18293743 | C | G | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.1785-767G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293743 | |||||||
chr11:18293758 | G | A | 1 | a0001c0003t0001g0046 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1785-782C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293758 | |||||||
chr11:18293870 | A | G | 1 | a0001c0003t0001g0021 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1785-894T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293870 | |||||||
chr11:18293928 | A | AC | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1785-953_1785-952i others(3): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18293928 | |||||||
chr11:18294018 | G | A | 11 | a0001c0001t0005g0015 a0001c0001t0005g0306 a0001c0001t0005g0307 others(8): Show |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.1784+1002C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294018 | |||||||
chr11:18294242 | T | G | 1 | a0002c0002t0002g0294 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1784+778A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294242 | |||||||
chr11:18294369 | CCTTGACT others(11): Show |
C | 1 | a0001c0001t0003g0315 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1784+633_1784+650d others(20): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294369 | |||||||
chr11:18294398 | G | A | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.1784+622C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294398 | |||||||
chr11:18294424 | T | C | 1 | a0001c0001t0003g0187 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1784+596A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294424 | |||||||
chr11:18294443 | T | A | 1 | a0015c0012t0002g0213 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1784+577A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294443 | |||||||
chr11:18294702 | T | C | 7 | a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 others(4): Show |
7 | HG01496.hp1 HG02572.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.1784+318A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294702 | |||||||
chr11:18294760 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1784+260C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294760 | |||||||
chr11:18294766 | C | T | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1784+254G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294766 | |||||||
chr11:18294831 | T | TA | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1784+188dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294831 | |||||||
chr11:18294873 | T | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1784+147A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294873 | |||||||
chr11:18294882 | G | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1784+138C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294882 | |||||||
chr11:18294955 | T | C | 1 | a0001c0001t0003g0080 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1784+65A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 14/22 | chr11 | 18294955 | |||||||
chr11:18295173 | G | C | 7 | a0001c0001t0001g0244 a0001c0001t0002g0256 a0001c0001t0002g0259 others(4): Show |
7 | HG02132.hp2 HG02135.hp2 NA18992.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.1635-4C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 13/22 | chr11 | 18295173 | |||||||
chr11:18295331 | C | T | 5 | a0001c0001t0001g0014 a0001c0001t0001g0309 a0001c0001t0001g0310 others(2): Show |
6 | HG02895.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1635-162G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 13/22 | chr11 | 18295331 | |||||||
chr11:18295345 | C | A | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1635-176G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 13/22 | chr11 | 18295345 | |||||||
chr11:18295884 | T | C | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1634+115A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 13/22 | chr11 | 18295884 | |||||||
chr11:18295911 | T | A | 154 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(151): Show |
167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
intron_variant | MODIFIER | c.1634+88A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 13/22 | chr11 | 18295911 | |||||||
chr11:18296152 | C | T | 238 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(235): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
intron_variant | MODIFIER | c.1511-30G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296152 | |||||||
chr11:18296170 | G | A | 5 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0300 others(2): Show |
5 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1511-48C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296170 | |||||||
chr11:18296317 | C | A | 126 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(123): Show |
135 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
intron_variant | MODIFIER | c.1511-195G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296317 | |||||||
chr11:18296478 | T | C | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1510+320A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296478 | |||||||
chr11:18296600 | G | A | 1 | a0015c0012t0002g0213 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1510+198C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296600 | |||||||
chr11:18296681 | C | T | 1 | a0001c0001t0001g0168 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.1510+117G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296681 | |||||||
chr11:18296740 | G | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1510+58C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 12/22 | chr11 | 18296740 | |||||||
chr11:18297003 | C | CA | 52 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(49): Show |
58 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(55): Show |
intron_variant | MODIFIER | c.1324-20dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 11/22 | chr11 | 18297003 | |||||||
chr11:18297003 | CA | C | 18 | a0001c0001t0002g0249 a0001c0001t0005g0015 a0001c0001t0005g0306 others(15): Show |
21 | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(18): Show |
intron_variant | MODIFIER | c.1324-20delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 11/22 | chr11 | 18297003 | |||||||
chr11:18297047 | A | G | 1 | a0002c0002t0002g0229 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1324-63T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 11/22 | chr11 | 18297047 | |||||||
chr11:18297732 | G | T | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.1165-15C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18297732 | |||||||
chr11:18297737 | A | G | 6 | a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 others(3): Show |
6 | HG00621.hp2 HG00642.hp2 HG01175.hp1 others(3): Show |
intron_variant | MODIFIER | c.1165-20T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18297737 | |||||||
chr11:18297804 | G | A | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1165-87C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18297804 | |||||||
chr11:18297863 | C | T | 1 | a0002c0002t0001g0240 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1165-146G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18297863 | |||||||
chr11:18297874 | G | A | 1 | a0001c0001t0001g0214 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1165-157C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18297874 | |||||||
chr11:18297996 | T | C | 1 | a0001c0001t0006g0348 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1165-279A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18297996 | |||||||
chr11:18298012 | A | G | 239 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(236): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1165-295T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298012 | |||||||
chr11:18298041 | T | C | 1 | a0001c0001t0001g0316 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1165-324A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298041 | |||||||
chr11:18298048 | C | G | 1 | a0002c0002t0002g0217 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1165-331G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298048 | |||||||
chr11:18298155 | G | C | 1 | a0001c0003t0001g0038 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.1165-438C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298155 | |||||||
chr11:18298156 | C | T | 1 | a0001c0003t0001g0038 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.1165-439G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298156 | |||||||
chr11:18298157 | T | C | 1 | a0001c0003t0001g0038 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.1165-440A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298157 | |||||||
chr11:18298184 | G | T | 3 | a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0004g0189 |
3 | HG00099.hp1 HG01109.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.1165-467C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298184 | |||||||
chr11:18298266 | C | T | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.1164+526G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298266 | |||||||
chr11:18298281 | C | A | 1 | a0001c0001t0001g0214 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1164+511G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298281 | |||||||
chr11:18298321 | G | A | 11 | a0001c0001t0005g0015 a0001c0001t0005g0306 a0001c0001t0005g0307 others(8): Show |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.1164+471C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298321 | |||||||
chr11:18298368 | G | A | 240 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(237): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.1164+424C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298368 | |||||||
chr11:18298439 | G | A | 1 | a0001c0001t0003g0136 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1164+353C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298439 | |||||||
chr11:18298476 | C | T | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1164+316G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298476 | |||||||
chr11:18298537 | A | C | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1164+255T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298537 | |||||||
chr11:18298605 | G | T | 53 | a0002c0002t0001g0198 a0002c0002t0001g0240 a0002c0002t0002g0003 others(50): Show |
59 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.1164+187C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298605 | |||||||
chr11:18298777 | T | G | 1 | a0001c0001t0001g0338 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1164+15A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 10/22 | chr11 | 18298777 | |||||||
chr11:18299010 | A | C | 10 | a0001c0001t0013g0297 a0001c0004t0001g0296 a0001c0004t0001g0298 others(7): Show |
10 | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.986-40T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299010 | |||||||
chr11:18299066 | C | T | 1 | a0001c0001t0006g0345 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.986-96G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299066 | |||||||
chr11:18299098 | A | G | 1 | a0001c0001t0003g0123 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.986-128T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299098 | |||||||
chr11:18299153 | G | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.986-183C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299153 | |||||||
chr11:18299172 | G | C | 1 | a0001c0001t0001g0158 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.986-202C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299172 | |||||||
chr11:18299174 | A | G | 3 | a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 |
3 | HG02074.hp1 NA18747.hp1 NA18975.hp2 |
intron_variant | MODIFIER | c.986-204T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299174 | |||||||
chr11:18299213 | A | T | 1 | a0001c0003t0001g0038 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.986-243T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299213 | |||||||
chr11:18299293 | G | A | 1 | a0001c0001t0001g0158 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.986-323C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299293 | |||||||
chr11:18299458 | C | T | 1 | a0001c0001t0002g0243 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.986-488G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299458 | |||||||
chr11:18299628 | A | G | 1 | a0001c0001t0006g0348 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.986-658T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299628 | |||||||
chr11:18299844 | C | G | 1 | a0013c0013t0001g0145 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.986-874G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18299844 | |||||||
chr11:18300344 | T | C | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.985+484A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300344 | |||||||
chr11:18300396 | C | T | 136 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(133): Show |
147 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
intron_variant | MODIFIER | c.985+432G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300396 | |||||||
chr11:18300632 | G | A | 4 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0166 others(1): Show |
4 | HG01106.hp2 HG01109.hp1 HG01167.hp1 others(1): Show |
intron_variant | MODIFIER | c.985+196C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300632 | |||||||
chr11:18300688 | C | A | 1 | a0001c0001t0003g0156 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.985+140G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300688 | |||||||
chr11:18300696 | CA | C | 11 | a0001c0003t0001g0027 a0001c0003t0001g0032 a0001c0003t0001g0036 others(8): Show |
11 | HG01099.hp1 HG01169.hp1 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.985+131delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300696 | |||||||
chr11:18300696 | CAAA | C | 63 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0214 others(60): Show |
72 | HG00423.hp2 HG00597.hp2 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.985+129_985+131del others(3): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300696 | |||||||
chr11:18300696 | CAAAA | C | 77 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(74): Show |
82 | HG00280.hp2 HG00609.hp1 HG00735.hp1 others(79): Show |
intron_variant | MODIFIER | c.985+128_985+131del others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300696 | |||||||
chr11:18300696 | CAAAAA | C | 142 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(139): Show |
152 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.985+127_985+131del others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 9/22 | chr11 | 18300696 | |||||||
chr11:18300968 | A | G | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.897-52T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18300968 | |||||||
chr11:18300998 | G | T | 60 | a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(57): Show |
62 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.897-82C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18300998 | |||||||
chr11:18301040 | T | C | 3 | a0001c0001t0006g0017 a0001c0001t0006g0347 a0001c0001t0006g0348 |
4 | HG02922.hp2 HG03486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.897-124A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301040 | |||||||
chr11:18301195 | C | A | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.897-279G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301195 | |||||||
chr11:18301316 | C | T | 1 | a0001c0001t0001g0330 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.897-400G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301316 | |||||||
chr11:18301328 | C | A | 2 | a0005c0007t0002g0223 a0005c0007t0002g0227 |
2 | HG03834.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.897-412G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301328 | |||||||
chr11:18301360 | G | A | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.897-444C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301360 | |||||||
chr11:18301377 | A | C | 292 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(289): Show |
316 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
intron_variant | MODIFIER | c.897-461T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301377 | |||||||
chr11:18301385 | G | A | 2 | a0001c0001t0001g0137 a0001c0001t0001g0140 |
2 | NA18962.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.897-469C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301385 | |||||||
chr11:18301454 | C | CA | 33 | a0001c0001t0001g0014 a0001c0001t0001g0077 a0001c0001t0001g0207 others(30): Show |
35 | HG00323.hp1 HG00741.hp1 HG00741.hp2 others(32): Show |
intron_variant | MODIFIER | c.897-539dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301454 | |||||||
chr11:18301454 | C | CAAAA | 50 | a0002c0002t0001g0198 a0002c0002t0001g0240 a0002c0002t0002g0003 others(47): Show |
56 | HG00423.hp2 HG00621.hp1 HG01123.hp1 others(53): Show |
intron_variant | MODIFIER | c.897-542_897-539dup others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301454 | |||||||
chr11:18301454 | CA | C | 37 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0119 others(34): Show |
39 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.897-539delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301454 | |||||||
chr11:18301575 | C | G | 1 | a0001c0003t0001g0046 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.897-659G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301575 | |||||||
chr11:18301576 | G | A | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.897-660C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301576 | |||||||
chr11:18301676 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.897-760C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301676 | |||||||
chr11:18301686 | G | T | 1 | a0001c0001t0001g0313 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.897-770C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301686 | |||||||
chr11:18301695 | T | A | 1 | a0001c0001t0001g0325 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.897-779A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301695 | |||||||
chr11:18301696 | C | A | 1 | a0001c0001t0001g0325 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.897-780G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301696 | |||||||
chr11:18301749 | A | G | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.897-833T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301749 | |||||||
chr11:18301769 | G | C | 136 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(133): Show |
147 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
intron_variant | MODIFIER | c.897-853C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301769 | |||||||
chr11:18301832 | C | A | 1 | a0001c0003t0001g0046 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.897-916G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301832 | |||||||
chr11:18301937 | T | C | 1 | a0001c0001t0003g0154 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.897-1021A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301937 | |||||||
chr11:18301970 | T | C | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.897-1054A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18301970 | |||||||
chr11:18302006 | T | A | 2 | a0001c0001t0002g0175 a0001c0001t0002g0276 |
2 | NA18951.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.897-1090A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302006 | |||||||
chr11:18302126 | C | T | 1 | a0001c0001t0002g0286 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.897-1210G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302126 | |||||||
chr11:18302222 | A | G | 1 | a0001c0001t0010g0018 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.897-1306T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302222 | |||||||
chr11:18302281 | T | C | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.897-1365A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302281 | |||||||
chr11:18302511 | T | A | 1 | a0001c0003t0001g0020 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.897-1595A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302511 | |||||||
chr11:18302514 | T | A | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.897-1598A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302514 | |||||||
chr11:18302550 | T | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.897-1634A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302550 | |||||||
chr11:18302670 | C | A | 3 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 |
3 | HG02145.hp1 HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.897-1754G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302670 | |||||||
chr11:18302742 | T | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.897-1826A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302742 | |||||||
chr11:18302791 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.897-1875C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302791 | |||||||
chr11:18302816 | A | G | 1 | a0001c0003t0004g0028 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.897-1900T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302816 | |||||||
chr11:18302822 | C | CGG | 50 | a0001c0001t0001g0007 a0001c0001t0001g0083 a0001c0001t0001g0088 others(47): Show |
56 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(53): Show |
intron_variant | MODIFIER | c.897-1908_897-1907d others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302822 | |||||||
chr11:18302822 | C | CGGG | 36 | a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0101 others(33): Show |
38 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(35): Show |
intron_variant | MODIFIER | c.897-1909_897-1907d others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302822 | |||||||
chr11:18302822 | C | CGGGGGGG others(7): Show |
1 | a0001c0003t0001g0038 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.897-1920_897-1907d others(16): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302822 | |||||||
chr11:18302830 | G | GGGGGGGG others(3): Show |
1 | a0001c0001t0002g0255 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.897-1915_897-1914i others(12): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302830 | |||||||
chr11:18302830 | G | GGGGGGGG others(4): Show |
1 | a0001c0001t0002g0283 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.897-1915_897-1914i others(13): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302830 | |||||||
chr11:18302830 | G | GGGGGGGG others(6): Show |
2 | a0001c0001t0001g0328 a0001c0001t0013g0297 |
2 | HG02257.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.897-1915_897-1914i others(15): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302830 | |||||||
chr11:18302831 | G | GGAGGGGG others(6): Show |
1 | a0001c0003t0001g0025 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.897-1916_897-1915i others(15): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGAGGGG others(8): Show |
1 | a0001c0003t0001g0026 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.897-1916_897-1915i others(17): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGAGGGG others(9): Show |
1 | a0001c0003t0001g0021 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.897-1916_897-1915i others(18): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGAGGG others(12): Show |
1 | a0001c0003t0001g0023 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.897-1916_897-1915i others(21): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGA | 34 | a0001c0001t0001g0137 a0001c0001t0003g0112 a0001c0004t0001g0296 others(31): Show |
38 | HG01123.hp1 HG01256.hp2 HG01258.hp1 others(35): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(8): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGA | 25 | a0001c0001t0001g0076 a0001c0004t0001g0301 a0001c0004t0001g0305 others(22): Show |
27 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(9): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(3): Show |
22 | a0001c0001t0001g0333 a0001c0001t0002g0249 a0001c0001t0002g0251 others(19): Show |
22 | HG00597.hp2 HG00609.hp1 HG01070.hp2 others(19): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(12): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(4): Show |
21 | a0001c0001t0001g0075 a0001c0001t0001g0207 a0001c0001t0002g0175 others(18): Show |
21 | HG01934.hp2 HG01993.hp2 HG02040.hp2 others(18): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(13): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(5): Show |
12 | a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0244 others(9): Show |
14 | HG00735.hp1 HG02004.hp1 HG02074.hp1 others(11): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(14): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(6): Show |
9 | a0001c0001t0001g0078 a0001c0001t0002g0210 a0001c0001t0002g0264 others(6): Show |
9 | HG00280.hp2 HG00642.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(15): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(7): Show |
13 | a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 others(10): Show |
13 | HG01074.hp2 HG01099.hp1 HG01168.hp2 others(10): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(16): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(8): Show |
5 | a0001c0001t0002g0279 a0001c0003t0001g0032 a0001c0003t0001g0033 others(2): Show |
5 | HG03492.hp2 NA18522.hp1 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(17): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(9): Show |
11 | a0001c0003t0001g0022 a0001c0003t0001g0031 a0001c0003t0001g0036 others(8): Show |
11 | HG01169.hp1 HG01175.hp2 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(18): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(10): Show |
5 | a0001c0001t0001g0324 a0001c0003t0001g0020 a0001c0003t0004g0066 others(2): Show |
5 | HG01243.hp1 HG01361.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(19): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(11): Show |
11 | a0001c0001t0002g0284 a0001c0003t0001g0027 a0001c0003t0001g0034 others(8): Show |
11 | HG00741.hp1 HG01243.hp2 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.897-1916_897-1915i others(20): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(12): Show |
1 | a0001c0003t0004g0064 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.897-1916_897-1915i others(21): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(13): Show |
1 | a0001c0003t0003g0073 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.897-1916_897-1915i others(22): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(14): Show |
2 | a0001c0003t0004g0061 a0001c0003t0004g0062 |
2 | HG01496.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.897-1916_897-1915i others(23): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302831 | G | GGGGGGGG others(17): Show |
1 | a0001c0003t0001g0035 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.897-1916_897-1915i others(26): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302831 | |||||||
chr11:18302845 | G | C | 1 | a0001c0001t0003g0186 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.897-1929C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302845 | |||||||
chr11:18302849 | C | T | 66 | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 others(63): Show |
68 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.897-1933G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302849 | |||||||
chr11:18302939 | G | A | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.897-2023C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302939 | |||||||
chr11:18302952 | G | A | 1 | a0001c0001t0001g0076 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.897-2036C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18302952 | |||||||
chr11:18303048 | G | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.897-2132C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303048 | |||||||
chr11:18303068 | G | GAAAGTGA others(4): Show |
54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.897-2153_897-2152i others(13): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303068 | |||||||
chr11:18303185 | T | C | 1 | a0001c0001t0003g0138 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.896+2237A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303185 | |||||||
chr11:18303276 | T | TA | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.896+2145_896+2146i others(3): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303276 | |||||||
chr11:18303290 | C | A | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.896+2132G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303290 | |||||||
chr11:18303453 | C | T | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.896+1969G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303453 | |||||||
chr11:18303464 | GCAGAGCC others(14): Show |
G | 1 | a0001c0001t0001g0316 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.896+1937_896+1957d others(23): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303464 | |||||||
chr11:18303485 | CT | C | 4 | a0001c0003t0004g0028 a0001c0003t0009g0342 a0001c0003t0009g0343 others(1): Show |
4 | HG01243.hp2 HG01891.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.896+1936delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303485 | |||||||
chr11:18303511 | T | C | 3 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0002c0002t0002g0231 |
3 | HG01891.hp1 HG02145.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.896+1911A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303511 | |||||||
chr11:18303599 | C | T | 132 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(129): Show |
142 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
intron_variant | MODIFIER | c.896+1823G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303599 | |||||||
chr11:18303618 | C | T | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.896+1804G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303618 | |||||||
chr11:18303721 | C | T | 60 | a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(57): Show |
62 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.896+1701G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303721 | |||||||
chr11:18303726 | G | A | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.896+1696C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303726 | |||||||
chr11:18303753 | C | A | 10 | a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0059 others(7): Show |
10 | HG01496.hp1 HG01884.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.896+1669G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303753 | |||||||
chr11:18303792 | T | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.896+1630A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303792 | |||||||
chr11:18303854 | T | TA | 69 | a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0001g0140 others(66): Show |
75 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(72): Show |
intron_variant | MODIFIER | c.896+1567dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303854 | |||||||
chr11:18303854 | TA | T | 15 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(12): Show |
18 | HG01168.hp2 HG01243.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.896+1567delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303854 | |||||||
chr11:18303921 | A | C | 1 | a0002c0002t0002g0202 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.896+1501T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303921 | |||||||
chr11:18303946 | G | T | 1 | a0001c0001t0002g0256 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.896+1476C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303946 | |||||||
chr11:18303968 | G | GA | 10 | a0001c0001t0013g0297 a0001c0004t0001g0296 a0001c0004t0001g0298 others(7): Show |
10 | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.896+1453dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18303968 | |||||||
chr11:18304006 | A | G | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.896+1416T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304006 | |||||||
chr11:18304119 | G | A | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.896+1303C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304119 | |||||||
chr11:18304216 | C | CT | 21 | a0001c0001t0001g0075 a0001c0001t0001g0244 a0001c0001t0002g0245 others(18): Show |
21 | HG01169.hp1 HG01261.hp2 HG02080.hp1 others(18): Show |
intron_variant | MODIFIER | c.896+1205dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304216 | |||||||
chr11:18304269 | T | G | 80 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0074 others(77): Show |
85 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(82): Show |
intron_variant | MODIFIER | c.896+1153A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304269 | |||||||
chr11:18304274 | T | C | 1 | a0001c0001t0010g0018 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.896+1148A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304274 | |||||||
chr11:18304320 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.896+1102C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304320 | |||||||
chr11:18304509 | G | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.896+913C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304509 | |||||||
chr11:18304649 | C | G | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.896+773G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304649 | |||||||
chr11:18304809 | C | T | 1 | a0001c0001t0001g0214 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.896+613G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304809 | |||||||
chr11:18304995 | T | C | 147 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(144): Show |
158 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
intron_variant | MODIFIER | c.896+427A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18304995 | |||||||
chr11:18305162 | G | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.896+260C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305162 | |||||||
chr11:18305165 | G | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.896+257C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305165 | |||||||
chr11:18305168 | C | A | 61 | a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(58): Show |
63 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.896+254G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305168 | |||||||
chr11:18305174 | T | A | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.896+248A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305174 | |||||||
chr11:18305211 | C | T | 238 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(235): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
intron_variant | MODIFIER | c.896+211G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305211 | |||||||
chr11:18305278 | C | T | 10 | a0001c0001t0013g0297 a0001c0004t0001g0296 a0001c0004t0001g0298 others(7): Show |
10 | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.896+144G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305278 | |||||||
chr11:18305359 | A | G | 1 | a0001c0001t0003g0115 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.896+63T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305359 | |||||||
chr11:18305370 | A | C | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.896+52T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | 18305370 | |||||||
chr11:18305575 | T | G | 11 | a0001c0001t0005g0015 a0001c0001t0005g0306 a0001c0001t0005g0307 others(8): Show |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.825-82A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305575 | |||||||
chr11:18305664 | C | G | 3 | a0002c0002t0002g0221 a0002c0002t0002g0236 a0002c0002t0002g0237 |
3 | HG01256.hp2 HG01258.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.825-171G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305664 | |||||||
chr11:18305701 | C | T | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.825-208G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305701 | |||||||
chr11:18305710 | C | T | 1 | a0001c0003t0001g0034 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.825-217G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305710 | |||||||
chr11:18305721 | T | C | 1 | a0001c0001t0003g0187 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.825-228A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305721 | |||||||
chr11:18305732 | C | CT | 8 | a0001c0003t0001g0033 a0001c0003t0004g0029 a0001c0003t0004g0069 others(5): Show |
8 | HG00741.hp1 HG01175.hp2 HG01243.hp2 others(5): Show |
intron_variant | MODIFIER | c.825-240dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305732 | |||||||
chr11:18305732 | CT | C | 225 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(222): Show |
243 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
intron_variant | MODIFIER | c.825-240delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305732 | |||||||
chr11:18305772 | A | G | 292 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(289): Show |
316 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
intron_variant | MODIFIER | c.825-279T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305772 | |||||||
chr11:18305777 | C | G | 311 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(308): Show |
335 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
intron_variant | MODIFIER | c.825-284G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305777 | |||||||
chr11:18305779 | C | T | 1 | a0016c0023t0002g0197 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.825-286G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305779 | |||||||
chr11:18305798 | T | C | 1 | a0001c0001t0003g0106 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.825-305A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305798 | |||||||
chr11:18305801 | T | C | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.825-308A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305801 | |||||||
chr11:18305803 | G | A | 1 | a0001c0001t0003g0141 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.825-310C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305803 | |||||||
chr11:18305839 | C | T | 2 | a0002c0002t0002g0217 a0002c0002t0002g0239 |
2 | NA18612.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.824+296G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305839 | |||||||
chr11:18305878 | C | T | 53 | a0002c0002t0001g0198 a0002c0002t0001g0240 a0002c0002t0002g0003 others(50): Show |
59 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.824+257G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305878 | |||||||
chr11:18305929 | T | TCACCC | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.824+205_824+206ins others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305929 | |||||||
chr11:18305936 | G | A | 11 | a0001c0001t0005g0015 a0001c0001t0005g0306 a0001c0001t0005g0307 others(8): Show |
13 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.824+199C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305936 | |||||||
chr11:18305952 | T | A | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.824+183A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305952 | |||||||
chr11:18305958 | TCCTGACC others(14): Show |
T | 1 | a0001c0001t0002g0280 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.824+156_824+176del others(21): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305958 | |||||||
chr11:18305974 | C | T | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.824+161G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18305974 | |||||||
chr11:18306101 | T | G | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.824+34A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | 18306101 | |||||||
chr11:18306642 | G | T | 1 | a0001c0001t0001g0207 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.612-295C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18306642 | |||||||
chr11:18306879 | A | G | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.612-532T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18306879 | |||||||
chr11:18306915 | G | A | 2 | a0001c0001t0001g0077 a0001c0001t0001g0078 |
2 | HG02818.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.612-568C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18306915 | |||||||
chr11:18306981 | CATCATTC others(14): Show |
C | 60 | a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(57): Show |
62 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.612-655_612-635del others(21): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18306981 | |||||||
chr11:18307052 | G | A | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.612-705C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307052 | |||||||
chr11:18307123 | C | T | 1 | a0001c0001t0011g0089 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.612-776G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307123 | |||||||
chr11:18307127 | A | G | 3 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 |
3 | HG02145.hp1 HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.612-780T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307127 | |||||||
chr11:18307195 | G | T | 1 | a0001c0001t0002g0293 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.612-848C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307195 | |||||||
chr11:18307459 | T | C | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.612-1112A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307459 | |||||||
chr11:18307518 | ACAT | A | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.612-1174_612-1172d others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307518 | |||||||
chr11:18307673 | T | A | 1 | a0002c0002t0002g0209 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.611+1273A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307673 | |||||||
chr11:18307690 | A | G | 1 | a0001c0001t0003g0112 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.611+1256T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307690 | |||||||
chr11:18307747 | A | C | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.611+1199T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307747 | |||||||
chr11:18307761 | A | C | 1 | a0006c0006t0002g0254 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.611+1185T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307761 | |||||||
chr11:18307792 | G | A | 2 | a0001c0001t0003g0147 a0001c0001t0003g0148 |
2 | HG01952.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.611+1154C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307792 | |||||||
chr11:18307813 | A | C | 4 | a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 others(1): Show |
4 | HG02965.hp1 HG03041.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.611+1133T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18307813 | |||||||
chr11:18308004 | T | C | 3 | a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 |
3 | HG00140.hp1 HG00639.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.611+942A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18308004 | |||||||
chr11:18308051 | C | A | 3 | a0001c0001t0008g0011 a0001c0001t0008g0095 a0001c0001t0008g0185 |
4 | HG00735.hp2 HG02145.hp2 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.611+895G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18308051 | |||||||
chr11:18308248 | T | A | 1 | a0001c0001t0003g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.611+698A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18308248 | |||||||
chr11:18308800 | AG | A | 5 | a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0267 others(2): Show |
5 | NA18965.hp1 NA18972.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.611+145delC | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18308800 | |||||||
chr11:18308838 | G | GA | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.611+107dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | 18308838 | |||||||
chr11:18309186 | A | C | 1 | a0004c0005t0003g0111 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.478-107T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309186 | |||||||
chr11:18309429 | G | C | 9 | a0001c0001t0001g0087 a0001c0001t0003g0080 a0001c0001t0003g0081 others(6): Show |
9 | HG00558.hp1 HG01952.hp2 HG02004.hp2 others(6): Show |
intron_variant | MODIFIER | c.478-350C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309429 | |||||||
chr11:18309467 | G | A | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.478-388C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309467 | |||||||
chr11:18309724 | G | A | 2 | a0001c0001t0003g0315 a0001c0001t0003g0318 |
2 | HG02738.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.478-645C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309724 | |||||||
chr11:18309829 | T | C | 3 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 |
3 | HG02145.hp1 HG02809.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.478-750A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309829 | |||||||
chr11:18309935 | C | T | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.477+806G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309935 | |||||||
chr11:18309942 | G | T | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.477+799C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309942 | |||||||
chr11:18309944 | A | C | 1 | a0001c0001t0002g0175 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.477+797T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309944 | |||||||
chr11:18309952 | A | T | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.477+789T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309952 | |||||||
chr11:18309956 | T | C | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.477+785A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309956 | |||||||
chr11:18309996 | C | G | 1 | a0002c0024t0002g0219 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.477+745G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18309996 | |||||||
chr11:18310016 | A | G | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.477+725T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18310016 | |||||||
chr11:18310081 | A | G | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.477+660T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18310081 | |||||||
chr11:18310118 | G | A | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.477+623C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18310118 | |||||||
chr11:18310210 | C | T | 1 | a0003c0019t0003g0184 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.477+531G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18310210 | |||||||
chr11:18310428 | ATATCT | A | 3 | a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0003g0336 |
3 | HG00642.hp2 HG01175.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.477+308_477+312del others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18310428 | |||||||
chr11:18310480 | T | C | 1 | a0001c0004t0001g0298 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.477+261A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 5/22 | chr11 | 18310480 | |||||||
chr11:18310943 | T | C | 1 | a0001c0001t0001g0105 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.285-10A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 4/22 | chr11 | 18310943 | |||||||
chr11:18311177 | C | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.284+210G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 4/22 | chr11 | 18311177 | |||||||
chr11:18311360 | A | C | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.284+27T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 4/22 | chr11 | 18311360 | |||||||
chr11:18311495 | C | CATT | 67 | a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0091 others(64): Show |
72 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(69): Show |
intron_variant | MODIFIER | c.220-47_220-45dupAA others(1): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311495 | |||||||
chr11:18311508 | A | AT | 6 | a0001c0001t0005g0306 a0001c0001t0005g0320 a0001c0001t0005g0321 others(3): Show |
7 | HG00735.hp2 HG01070.hp2 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.220-58dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311508 | |||||||
chr11:18311508 | A | ATT | 3 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0015c0012t0002g0213 |
3 | HG02809.hp1 HG03579.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.220-59_220-58dupAA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311508 | |||||||
chr11:18311508 | A | ATTT | 4 | a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0174 others(1): Show |
4 | NA19000.hp2 NA19010.hp2 NA19057.hp1 others(1): Show |
intron_variant | MODIFIER | c.220-58_220-57insAA others(1): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311508 | |||||||
chr11:18311511 | A | AT | 12 | a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0322 others(9): Show |
12 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.220-61dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311511 | |||||||
chr11:18311511 | A | ATT | 14 | a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0312 others(11): Show |
14 | HG01070.hp1 HG01123.hp2 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.220-62_220-61dupAA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311511 | |||||||
chr11:18311511 | A | ATTT | 102 | a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0083 others(99): Show |
109 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
intron_variant | MODIFIER | c.220-63_220-61dupAA others(1): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311511 | |||||||
chr11:18311511 | A | T | 20 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0330 others(17): Show |
21 | HG00735.hp2 HG01070.hp2 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.220-60T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311511 | |||||||
chr11:18311512 | T | TTA | 12 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(9): Show |
13 | HG00323.hp2 HG00621.hp2 HG00642.hp1 others(10): Show |
intron_variant | MODIFIER | c.220-62_220-61insTA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311512 | |||||||
chr11:18311513 | T | TA | 11 | a0001c0001t0005g0323 a0001c0001t0013g0297 a0001c0003t0004g0059 others(8): Show |
11 | HG01884.hp2 HG02451.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.220-63_220-62insT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311513 | |||||||
chr11:18311514 | T | A | 91 | a0001c0001t0001g0092 a0001c0001t0001g0324 a0001c0001t0001g0325 others(88): Show |
97 | HG00323.hp1 HG00423.hp2 HG00621.hp1 others(94): Show |
intron_variant | MODIFIER | c.220-63A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311514 | |||||||
chr11:18311515 | T | A | 1 | a0002c0002t0002g0232 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.220-64A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311515 | |||||||
chr11:18311517 | T | A | 2 | a0001c0003t0001g0047 a0002c0002t0002g0058 |
2 | HG02647.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.220-66A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311517 | |||||||
chr11:18311700 | G | A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.219+214C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311700 | |||||||
chr11:18311733 | A | G | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.219+181T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311733 | |||||||
chr11:18311889 | A | T | 59 | a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(56): Show |
61 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.219+25T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 3/22 | chr11 | 18311889 | |||||||
chr11:18312095 | A | C | 1 | a0001c0001t0003g0107 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.109-71T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18312095 | |||||||
chr11:18312329 | G | A | 1 | a0001c0001t0003g0160 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.109-305C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18312329 | |||||||
chr11:18312487 | C | T | 1 | a0001c0001t0003g0106 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.109-463G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18312487 | |||||||
chr11:18312672 | G | A | 3 | a0001c0001t0008g0011 a0001c0001t0008g0095 a0001c0001t0008g0185 |
4 | HG00735.hp2 HG02145.hp2 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-648C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18312672 | |||||||
chr11:18312687 | G | C | 1 | a0001c0001t0002g0267 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.109-663C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18312687 | |||||||
chr11:18312797 | A | T | 1 | a0001c0001t0001g0244 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.109-773T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18312797 | |||||||
chr11:18313103 | G | A | 2 | a0001c0003t0001g0027 a0001c0003t0001g0047 |
2 | NA19070.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.109-1079C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313103 | |||||||
chr11:18313222 | GA | G | 10 | a0001c0001t0013g0297 a0001c0004t0001g0296 a0001c0004t0001g0298 others(7): Show |
10 | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.109-1199delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313222 | |||||||
chr11:18313566 | G | T | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.109-1542C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313566 | |||||||
chr11:18313587 | A | AT | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.109-1564dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313587 | |||||||
chr11:18313642 | G | A | 79 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(76): Show |
83 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.109-1618C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313642 | |||||||
chr11:18313653 | C | T | 3 | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 |
3 | NA18959.hp2 NA19066.hp1 NA19078.hp2 |
intron_variant | MODIFIER | c.109-1629G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313653 | |||||||
chr11:18313690 | C | T | 1 | a0007c0021t0001g0048 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.109-1666G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313690 | |||||||
chr11:18313691 | G | A | 4 | a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 others(1): Show |
4 | NA18975.hp1 NA18985.hp1 NA19063.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-1667C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313691 | |||||||
chr11:18313810 | A | T | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.109-1786T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313810 | |||||||
chr11:18313843 | A | G | 293 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(290): Show |
317 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
intron_variant | MODIFIER | c.109-1819T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313843 | |||||||
chr11:18313908 | G | A | 1 | a0002c0002t0002g0236 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.109-1884C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313908 | |||||||
chr11:18313912 | C | CAA | 128 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(125): Show |
138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.109-1890_109-1889d others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313912 | |||||||
chr11:18313912 | C | CAAA | 7 | a0001c0001t0001g0014 a0001c0001t0001g0309 a0001c0001t0001g0310 others(4): Show |
8 | HG02895.hp1 HG02896.hp1 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.109-1891_109-1889d others(5): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313912 | |||||||
chr11:18313912 | CA | C | 68 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(65): Show |
70 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(67): Show |
intron_variant | MODIFIER | c.109-1889delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313912 | |||||||
chr11:18313924 | A | G | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.109-1900T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18313924 | |||||||
chr11:18314137 | G | A | 239 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(236): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.109-2113C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314137 | |||||||
chr11:18314213 | C | T | 1 | a0001c0001t0002g0249 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.109-2189G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314213 | |||||||
chr11:18314230 | G | C | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.109-2206C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314230 | |||||||
chr11:18314243 | C | G | 1 | a0001c0001t0001g0101 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.109-2219G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314243 | |||||||
chr11:18314323 | G | A | 1 | a0008c0016t0003g0162 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.109-2299C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314323 | |||||||
chr11:18314358 | G | A | 138 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(135): Show |
149 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
intron_variant | MODIFIER | c.109-2334C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314358 | |||||||
chr11:18314407 | T | C | 2 | a0001c0001t0001g0163 a0001c0001t0001g0164 |
2 | NA18961.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.109-2383A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314407 | |||||||
chr11:18314436 | T | C | 1 | a0001c0001t0001g0338 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.109-2412A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314436 | |||||||
chr11:18314453 | C | T | 1 | a0001c0001t0003g0100 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.109-2429G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314453 | |||||||
chr11:18314476 | C | T | 1 | a0001c0001t0005g0322 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.109-2452G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314476 | |||||||
chr11:18314530 | A | AAAAT | 7 | a0001c0001t0001g0207 a0001c0001t0002g0210 a0001c0001t0002g0293 others(4): Show |
7 | HG01261.hp2 HG02559.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.109-2510_109-2507d others(6): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314530 | |||||||
chr11:18314530 | A | AAAATAAA others(1): Show |
50 | a0001c0001t0001g0244 a0001c0001t0002g0012 a0001c0001t0002g0013 others(47): Show |
52 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(49): Show |
intron_variant | MODIFIER | c.109-2514_109-2507d others(10): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314530 | |||||||
chr11:18314530 | A | AAAATAAA others(5): Show |
6 | a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 others(3): Show |
6 | HG02074.hp1 HG02602.hp1 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.109-2518_109-2507d others(14): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314530 | |||||||
chr11:18314530 | AAAATAAA others(1): Show |
A | 54 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(51): Show |
60 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.109-2514_109-2507d others(10): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314530 | |||||||
chr11:18314677 | C | T | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.109-2653G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314677 | |||||||
chr11:18314858 | G | A | 1 | a0001c0001t0002g0269 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.109-2834C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314858 | |||||||
chr11:18314912 | G | A | 1 | a0002c0002t0002g0204 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.108+2839C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314912 | |||||||
chr11:18314925 | C | T | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.108+2826G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314925 | |||||||
chr11:18314999 | CAGCTTCT others(7): Show |
C | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.108+2738_108+2751d others(16): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18314999 | |||||||
chr11:18315154 | T | C | 1 | a0002c0002t0002g0058 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.108+2597A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315154 | |||||||
chr11:18315188 | C | T | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.108+2563G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315188 | |||||||
chr11:18315260 | C | T | 1 | a0002c0002t0002g0215 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.108+2491G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315260 | |||||||
chr11:18315490 | G | A | 1 | a0001c0001t0001g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.108+2261C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315490 | |||||||
chr11:18315612 | T | TA | 6 | a0001c0001t0001g0214 a0001c0001t0005g0306 a0001c0001t0005g0320 others(3): Show |
6 | HG01070.hp2 HG01433.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.108+2138dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315612 | |||||||
chr11:18315726 | C | A | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.108+2025G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315726 | |||||||
chr11:18315757 | T | TA | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+1993dupT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315757 | |||||||
chr11:18315929 | T | C | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.108+1822A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18315929 | |||||||
chr11:18316072 | T | C | 1 | a0003c0019t0003g0184 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.108+1679A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316072 | |||||||
chr11:18316086 | A | G | 1 | a0001c0001t0001g0214 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.108+1665T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316086 | |||||||
chr11:18316374 | T | C | 1 | a0011c0015t0012g0072 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.108+1377A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316374 | |||||||
chr11:18316503 | G | A | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.108+1248C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316503 | |||||||
chr11:18316511 | G | A | 1 | a0015c0012t0002g0213 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.108+1240C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316511 | |||||||
chr11:18316655 | T | C | 64 | a0001c0001t0001g0214 a0001c0001t0005g0015 a0001c0001t0005g0306 others(61): Show |
72 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(69): Show |
intron_variant | MODIFIER | c.108+1096A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316655 | |||||||
chr11:18316861 | G | A | 2 | a0001c0001t0001g0317 a0001c0001t0001g0319 |
2 | HG02965.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.108+890C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316861 | |||||||
chr11:18316865 | G | A | 1 | a0001c0001t0013g0297 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.108+886C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316865 | |||||||
chr11:18316960 | C | T | 1 | a0001c0003t0004g0068 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.108+791G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18316960 | |||||||
chr11:18317070 | T | G | 1 | a0003c0019t0003g0184 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.108+681A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317070 | |||||||
chr11:18317088 | G | A | 3 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0166 |
3 | HG01109.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.108+663C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317088 | |||||||
chr11:18317127 | G | C | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | NA18982.hp1 NA19074.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.108+624C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317127 | |||||||
chr11:18317135 | A | C | 138 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(135): Show |
149 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
intron_variant | MODIFIER | c.108+616T>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317135 | |||||||
chr11:18317189 | G | A | 138 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(135): Show |
149 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
intron_variant | MODIFIER | c.108+562C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317189 | |||||||
chr11:18317193 | CA | C | 339 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(336): Show |
363 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
intron_variant | MODIFIER | c.108+557delT | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317193 | |||||||
chr11:18317257 | A | AT | 25 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(22): Show |
31 | HG01106.hp1 HG01243.hp1 HG02080.hp2 others(28): Show |
intron_variant | MODIFIER | c.108+493dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317257 | |||||||
chr11:18317257 | AT | A | 136 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0082 others(133): Show |
147 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
intron_variant | MODIFIER | c.108+493delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317257 | |||||||
chr11:18317351 | G | T | 12 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(9): Show |
15 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.108+400C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317351 | |||||||
chr11:18317380 | C | T | 1 | a0001c0018t0002g0188 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.108+371G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317380 | |||||||
chr11:18317401 | G | A | 9 | a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0299 others(6): Show |
9 | HG02451.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+350C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317401 | |||||||
chr11:18317416 | C | T | 1 | a0001c0001t0003g0096 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.108+335G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317416 | |||||||
chr11:18317417 | G | A | 1 | a0001c0001t0007g0171 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.108+334C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317417 | |||||||
chr11:18317709 | A | G | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.108+42T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 2/22 | chr11 | 18317709 | |||||||
chr11:18317960 | T | C | 1 | a0010c0020t0006g0346 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-49-53A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18317960 | |||||||
chr11:18318694 | T | G | 64 | a0001c0001t0001g0214 a0001c0001t0005g0015 a0001c0001t0005g0306 others(61): Show |
72 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(69): Show |
intron_variant | MODIFIER | c.-49-787A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18318694 | |||||||
chr11:18318731 | G | A | 1 | a0001c0003t0003g0172 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-49-824C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18318731 | |||||||
chr11:18318943 | C | T | 1 | a0001c0001t0001g0325 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-49-1036G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18318943 | |||||||
chr11:18318953 | A | AT | 53 | a0001c0001t0001g0214 a0002c0002t0001g0198 a0002c0002t0001g0240 others(50): Show |
59 | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.-49-1047dupA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18318953 | |||||||
chr11:18318970 | C | T | 15 | a0002c0002t0001g0198 a0002c0002t0002g0003 a0002c0002t0002g0004 others(12): Show |
19 | HG00621.hp1 HG02080.hp2 HG02083.hp2 others(16): Show |
intron_variant | MODIFIER | c.-49-1063G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18318970 | |||||||
chr11:18319207 | A | G | 1 | a0001c0001t0001g0244 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-49-1300T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319207 | |||||||
chr11:18319223 | G | C | 1 | a0001c0001t0002g0270 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-49-1316C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319223 | |||||||
chr11:18319255 | C | CCA | 19 | a0001c0001t0001g0079 a0001c0001t0001g0319 a0001c0001t0002g0210 others(16): Show |
19 | HG01074.hp1 HG02074.hp2 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.-49-1350_-49-1349d others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | C | CCACA | 23 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0002g0013 others(20): Show |
25 | HG00609.hp1 HG01884.hp2 HG01952.hp1 others(22): Show |
intron_variant | MODIFIER | c.-49-1352_-49-1349d others(6): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | C | CCACACA | 49 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0214 others(46): Show |
58 | HG00280.hp2 HG00423.hp2 HG00639.hp2 others(55): Show |
intron_variant | MODIFIER | c.-49-1354_-49-1349d others(8): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | C | CCACACAC others(1): Show |
17 | a0001c0001t0001g0330 a0001c0001t0005g0307 a0001c0001t0005g0308 others(14): Show |
17 | HG02083.hp2 HG02258.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.-49-1356_-49-1349d others(10): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | C | CCACACAC others(3): Show |
6 | a0001c0001t0001g0331 a0001c0001t0005g0015 a0001c0001t0005g0322 others(3): Show |
7 | HG00621.hp1 HG02257.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.-49-1358_-49-1349d others(12): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | C | CCACACAC others(5): Show |
1 | a0002c0002t0002g0294 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-49-1360_-49-1349d others(14): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | CCA | C | 127 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(124): Show |
136 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.-49-1350_-49-1349d others(4): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | CCACA | C | 16 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(13): Show |
17 | HG01167.hp1 HG01169.hp2 HG02015.hp2 others(14): Show |
intron_variant | MODIFIER | c.-49-1352_-49-1349d others(6): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319255 | CCACACA | C | 8 | a0001c0001t0001g0324 a0001c0001t0003g0080 a0001c0001t0003g0081 others(5): Show |
8 | HG00323.hp1 HG00558.hp1 HG01106.hp1 others(5): Show |
intron_variant | MODIFIER | c.-49-1354_-49-1349d others(8): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319255 | |||||||
chr11:18319266 | C | A | 1 | a0001c0001t0001g0339 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.-49-1359G>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319266 | |||||||
chr11:18319311 | AT | A | 251 | a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0075 others(248): Show |
270 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
intron_variant | MODIFIER | c.-49-1405delA | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319311 | |||||||
chr11:18319315 | G | A | 251 | a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0075 others(248): Show |
270 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
intron_variant | MODIFIER | c.-49-1408C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319315 | |||||||
chr11:18319348 | G | A | 5 | a0001c0001t0006g0017 a0001c0001t0006g0345 a0001c0001t0006g0347 others(2): Show |
6 | HG01884.hp1 HG02280.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-49-1441C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319348 | |||||||
chr11:18319647 | G | A | 5 | a0001c0001t0001g0014 a0001c0001t0001g0309 a0001c0001t0001g0310 others(2): Show |
6 | HG02895.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.-49-1740C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319647 | |||||||
chr11:18319655 | T | C | 56 | a0001c0001t0001g0244 a0001c0001t0002g0012 a0001c0001t0002g0013 others(53): Show |
58 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(55): Show |
intron_variant | MODIFIER | c.-49-1748A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319655 | |||||||
chr11:18319663 | T | C | 1 | a0002c0002t0002g0294 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-49-1756A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319663 | |||||||
chr11:18319692 | T | C | 1 | a0001c0001t0004g0189 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-49-1785A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319692 | |||||||
chr11:18319788 | A | T | 15 | a0002c0002t0001g0198 a0002c0002t0002g0003 a0002c0002t0002g0004 others(12): Show |
19 | HG00621.hp1 HG02080.hp2 HG02083.hp2 others(16): Show |
intron_variant | MODIFIER | c.-49-1881T>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319788 | |||||||
chr11:18319883 | G | A | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.-49-1976C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319883 | |||||||
chr11:18319956 | T | C | 7 | a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 others(4): Show |
7 | HG02451.hp2 HG02738.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.-50+1990A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18319956 | |||||||
chr11:18320039 | G | A | 1 | a0001c0001t0002g0295 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.-50+1907C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320039 | |||||||
chr11:18320045 | G | A | 7 | a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 others(4): Show |
7 | HG01496.hp1 HG02572.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.-50+1901C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320045 | |||||||
chr11:18320062 | C | T | 3 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0014t0001g0334 |
3 | HG02622.hp1 HG02630.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.-50+1884G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320062 | |||||||
chr11:18320066 | G | A | 5 | a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0070 others(2): Show |
5 | HG01074.hp2 HG01175.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.-50+1880C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320066 | |||||||
chr11:18320070 | T | G | 6 | a0001c0001t0005g0015 a0001c0001t0005g0320 a0001c0001t0005g0321 others(3): Show |
7 | HG01070.hp2 HG02109.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-50+1876A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320070 | |||||||
chr11:18320093 | T | C | 1 | a0001c0001t0003g0190 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-50+1853A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320093 | |||||||
chr11:18320305 | T | C | 3 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0014t0001g0334 |
3 | HG02622.hp1 HG02630.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.-50+1641A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320305 | |||||||
chr11:18320322 | A | G | 125 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(122): Show |
135 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
intron_variant | MODIFIER | c.-50+1624T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320322 | |||||||
chr11:18320402 | TTCAGCCA others(7): Show |
T | 1 | a0001c0003t0001g0020 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.-50+1530_-50+1543d others(16): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320402 | |||||||
chr11:18320534 | T | C | 237 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(234): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.-50+1412A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320534 | |||||||
chr11:18320613 | G | T | 243 | a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0075 others(240): Show |
261 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
intron_variant | MODIFIER | c.-50+1333C>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320613 | |||||||
chr11:18320658 | C | G | 1 | a0001c0001t0001g0324 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-50+1288G>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320658 | |||||||
chr11:18320739 | G | A | 1 | a0002c0002t0014g0341 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-50+1207C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320739 | |||||||
chr11:18320777 | T | G | 1 | a0001c0003t0003g0073 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-50+1169A>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320777 | |||||||
chr11:18320831 | C | T | 1 | a0001c0001t0001g0339 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.-50+1115G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320831 | |||||||
chr11:18320832 | T | A | 1 | a0001c0001t0001g0339 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.-50+1114A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320832 | |||||||
chr11:18320847 | T | C | 13 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0324 others(10): Show |
16 | HG01243.hp1 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.-50+1099A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320847 | |||||||
chr11:18320960 | G | C | 1 | a0001c0001t0007g0335 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-50+986C>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18320960 | |||||||
chr11:18321091 | A | G | 1 | a0001c0001t0003g0080 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-50+855T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321091 | |||||||
chr11:18321151 | TAAA | T | 6 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(3): Show |
6 | HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.-50+792_-50+794del others(3): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321151 | |||||||
chr11:18321171 | T | C | 3 | a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0003g0336 |
3 | HG00642.hp2 HG01175.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-50+775A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321171 | |||||||
chr11:18321207 | C | T | 1 | a0001c0001t0001g0339 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.-50+739G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321207 | |||||||
chr11:18321208 | T | C | 1 | a0001c0001t0001g0339 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.-50+738A>G | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321208 | |||||||
chr11:18321213 | T | A | 1 | a0004c0005t0003g0340 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-50+733A>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321213 | |||||||
chr11:18321370 | A | G | 2 | a0001c0001t0006g0345 a0010c0020t0006g0346 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.-50+576T>C | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321370 | |||||||
chr11:18321662 | G | A | 291 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(288): Show |
315 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
intron_variant | MODIFIER | c.-50+284C>T | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321662 | |||||||
chr11:18321835 | C | T | 1 | a0002c0002t0003g0019 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.-50+111G>A | HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1/22 | chr11 | 18321835 |