Item | Value |
---|---|
geneid | 9135 |
ensemblid | ENSG00000029725.17 |
hgncid | 17677 |
symbol | RABEP1 |
name | rabaptin, RAB GTPase binding effector protein 1 |
refseq_nuc | NM_004703.6 |
refseq_prot | NP_004694.2 |
ensembl_nuc | ENST00000537505.6 |
ensembl_prot | ENSP00000445408.2 |
mane_status | MANE Select |
chr | chr17 |
start | 5282284 |
end | 5386340 |
strand | + |
ver | v1.2 |
region | chr17:5282284-5386340 |
region5000 | chr17:5277284-5391340 |
regionname0 | RABEP1_chr17_5282284_5386340 |
regionname5000 | RABEP1_chr17_5277284_5391340 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 862 | 346 | 91 | 61 | 143 | 14 | 35 | 107 | RABEP1_chr17_5277284_5391340 | RABEP1 | MAQPG others(857): Show |
chr17 | 5277284 | 5391340 |
a0002 | 0/0 | 862 | 4 | 0 | 3 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | MAQPG others(857): Show |
chr17 | 5277284 | 5391340 |
a0003 | 0/0 | 862 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | MAQPG others(857): Show |
chr17 | 5277284 | 5391340 |
a0004 | 0/0 | 862 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | MAQPG others(857): Show |
chr17 | 5277284 | 5391340 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 2586 | 136 | 26 | 24 | 70 | 5 | 11 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0002 | 0/0 | 2586 | 69 | 13 | 3 | 45 | 0 | 8 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0003 | 1/0 | 2586 | 57 | 12 | 23 | 5 | 4 | 12 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0004 | 0/0 | 2586 | 50 | 17 | 8 | 23 | 0 | 2 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0005 | 0/1 | 2586 | 29 | 21 | 3 | 0 | 3 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0007 | 0/0 | 2586 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0009 | 0/0 | 2586 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0011 | 0/0 | 2586 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0012 | 0/0 | 2586 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0001c0013 | 0/0 | 2586 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0002c0006 | 0/0 | 2586 | 3 | 0 | 3 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0002c0008 | 0/0 | 2586 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0003c0014 | 0/0 | 2586 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 | ||
a0004c0010 | 0/0 | 2586 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | ATGGC others(2581): Show |
chr17 | 5277284 | 5391340 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 5917 | 93 | 11 | 23 | 44 | 5 | 10 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0004 | 0/0 | 5917 | 4 | 1 | 0 | 3 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0007 | 0/0 | 5917 | 19 | 0 | 0 | 19 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0011 | 0/0 | 5917 | 3 | 3 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0016 | 0/0 | 5917 | 3 | 3 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0019 | 0/0 | 5917 | 2 | 2 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0021 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0024 | 0/0 | 5917 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0027 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0028 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0029 | 0/0 | 5917 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0030 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0032 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0033 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0034 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0042 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0043 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0001t0045 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0001 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0002 | 0/0 | 5923 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0004 | 0/0 | 5917 | 26 | 11 | 2 | 10 | 0 | 3 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0006 | 0/0 | 5918 | 23 | 0 | 0 | 18 | 0 | 5 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5913): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0008 | 0/0 | 5918 | 11 | 0 | 0 | 11 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5913): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0020 | 0/0 | 5918 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5913): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0023 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0025 | 0/0 | 5917 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0026 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0031 | 0/0 | 5918 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5913): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0040 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0002t0041 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0003 | 1/0 | 5909 | 33 | 8 | 12 | 2 | 2 | 8 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0009 | 0/0 | 5909 | 10 | 1 | 9 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0010 | 0/0 | 5923 | 3 | 3 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0013 | 0/0 | 5909 | 5 | 0 | 2 | 0 | 2 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0014 | 0/0 | 5909 | 3 | 0 | 0 | 2 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0018 | 0/0 | 5909 | 2 | 0 | 0 | 0 | 0 | 2 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0001c0003t0044 | 0/0 | 5909 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0001c0004t0002 | 0/0 | 5923 | 36 | 6 | 5 | 23 | 0 | 2 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0004t0010 | 0/0 | 5923 | 5 | 5 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0004t0012 | 0/0 | 5922 | 5 | 4 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5917): Show |
chr17 | 5277284 | 5391340 |
a0001c0004t0017 | 0/0 | 5922 | 2 | 0 | 2 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5917): Show |
chr17 | 5277284 | 5391340 |
a0001c0004t0022 | 0/0 | 5922 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5917): Show |
chr17 | 5277284 | 5391340 |
a0001c0004t0039 | 0/0 | 5922 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5917): Show |
chr17 | 5277284 | 5391340 |
a0001c0005t0005 | 0/0 | 5923 | 26 | 20 | 3 | 0 | 2 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0005t0036 | 0/1 | 5921 | 1 | 0 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5916): Show |
chr17 | 5277284 | 5391340 |
a0001c0005t0037 | 0/0 | 5923 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0005t0038 | 0/0 | 5923 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0007t0011 | 0/0 | 5917 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0009t0011 | 0/0 | 5917 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0011t0035 | 0/0 | 5917 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0001c0012t0002 | 0/0 | 5923 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5918): Show |
chr17 | 5277284 | 5391340 |
a0001c0013t0003 | 0/0 | 5909 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0002c0006t0015 | 0/0 | 5917 | 3 | 0 | 3 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0002c0008t0001 | 0/0 | 5917 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
a0003c0014t0014 | 0/0 | 5909 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5904): Show |
chr17 | 5277284 | 5391340 |
a0004c0010t0004 | 0/0 | 5917 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | GTCAG others(5912): Show |
chr17 | 5277284 | 5391340 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0293 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0303 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0305 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0316 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0327 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0001g0335 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0004g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0004g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0004g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0004g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0321 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0322 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0324 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0326 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0330 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0333 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0007g0334 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0011g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0011g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0011g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0016g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0016g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0016g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0019g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0019g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0021g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0024g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0027g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0028g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0029g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0030g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0032g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0033g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0034g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0042g0345 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0043g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0001t0045g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0001g0331 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0312 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0320 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0004g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0006g0332 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0008g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0020g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0023g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0025g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0026g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0031g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0040g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0002t0041g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0183 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0227 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0003g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0003 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0009g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0010g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0010g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0013g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0013g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0013g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0013g0225 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0013g0228 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0014g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0014g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0014g0325 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0018g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0018g0348 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0003t0044g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0244 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0002g0336 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0010g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0010g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0010g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0010g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0010g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0012g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0012g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0012g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0012g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0012g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0017g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0017g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0022g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0004t0039g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0280 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0284 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0285 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0286 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0337 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0338 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0341 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0342 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0343 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0005g0344 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0036g0288 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0037g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0005t0038g0283 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0007t0011g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0009t0011g0346 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0011t0035g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0012t0002g0347 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0001c0013t0003g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0002c0006t0015g0315 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0002c0006t0015g0339 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0002c0006t0015g0340 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0002c0008t0001g0292 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0003c0014t0014g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
a0004c0010t0004g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0040 | EUR | GBR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00099 | hp2 | a0001 | c0012 | t0002 | g0347 | EUR | GBR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00280 | hp1 | a0001 | c0009 | t0011 | g0346 | EUR | FIN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0034 | EUR | FIN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00408 | hp2 | a0001 | c0003 | t0003 | g0191 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00423 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00423 | hp2 | a0001 | c0001 | t0007 | g0307 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00438 | hp1 | a0001 | c0001 | t0007 | g0329 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00438 | hp2 | a0001 | c0002 | t0006 | g0094 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00544 | hp2 | a0001 | c0002 | t0004 | g0108 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0257 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00609 | hp2 | a0001 | c0002 | t0006 | g0147 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00621 | hp1 | a0001 | c0002 | t0004 | g0117 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00621 | hp2 | a0001 | c0004 | t0002 | g0251 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00642 | hp1 | a0001 | c0004 | t0002 | g0262 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0293 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00673 | hp1 | a0001 | c0002 | t0040 | g0109 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00673 | hp2 | a0001 | c0004 | t0002 | g0071 | EAS | CHS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00733 | hp1 | a0001 | c0003 | t0003 | g0195 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00738 | hp2 | a0001 | c0005 | t0005 | g0289 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00741 | hp1 | a0001 | c0001 | t0001 | g0305 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG00741 | hp2 | a0001 | c0003 | t0003 | g0222 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01069 | hp1 | a0002 | c0006 | t0015 | g0339 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01069 | hp2 | a0001 | c0002 | t0004 | g0121 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01071 | hp1 | a0002 | c0006 | t0015 | g0340 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01071 | hp2 | a0001 | c0003 | t0009 | g0003 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01074 | hp1 | a0001 | c0003 | t0013 | g0177 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01074 | hp2 | a0001 | c0002 | t0004 | g0122 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01081 | hp1 | a0001 | c0003 | t0013 | g0178 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0113 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01109 | hp1 | a0001 | c0005 | t0005 | g0281 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01109 | hp2 | a0001 | c0003 | t0003 | g0193 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01167 | hp1 | a0001 | c0003 | t0003 | g0226 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01167 | hp2 | a0001 | c0004 | t0017 | g0290 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01169 | hp1 | a0001 | c0003 | t0003 | g0208 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01169 | hp2 | a0001 | c0004 | t0017 | g0291 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01175 | hp1 | a0001 | c0004 | t0002 | g0249 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01175 | hp2 | a0001 | c0003 | t0003 | g0188 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0112 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01243 | hp1 | a0001 | c0005 | t0005 | g0280 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01243 | hp2 | a0001 | c0004 | t0012 | g0231 | AMR | PUR | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01255 | hp1 | a0001 | c0003 | t0003 | g0187 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01261 | hp1 | a0001 | c0003 | t0003 | g0204 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0073 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01358 | hp1 | a0001 | c0002 | t0025 | g0240 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01358 | hp2 | a0001 | c0001 | t0001 | g0106 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01361 | hp1 | a0001 | c0004 | t0002 | g0254 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01361 | hp2 | a0001 | c0003 | t0003 | g0201 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01433 | hp1 | a0001 | c0003 | t0003 | g0214 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0327 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01496 | hp2 | a0001 | c0003 | t0009 | g0211 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01515 | hp1 | a0001 | c0005 | t0005 | g0285 | EUR | IBS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01515 | hp2 | a0001 | c0003 | t0003 | g0185 | EUR | IBS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0081 | EUR | IBS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01516 | hp2 | a0001 | c0003 | t0013 | g0228 | EUR | IBS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01517 | hp1 | a0001 | c0005 | t0005 | g0284 | EUR | IBS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0030 | EUR | IBS | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01884 | hp1 | a0001 | c0001 | t0011 | g0159 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01884 | hp2 | a0001 | c0004 | t0002 | g0129 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01891 | hp1 | a0001 | c0002 | t0004 | g0137 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01891 | hp2 | a0001 | c0003 | t0010 | g0013 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01928 | hp2 | a0001 | c0004 | t0002 | g0250 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01934 | hp1 | a0001 | c0003 | t0003 | g0213 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01934 | hp2 | a0001 | c0001 | t0001 | g0090 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01943 | hp1 | a0001 | c0004 | t0002 | g0247 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01943 | hp2 | a0001 | c0003 | t0009 | g0207 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0316 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0084 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0170 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01975 | hp2 | a0002 | c0006 | t0015 | g0315 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0065 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01978 | hp2 | a0001 | c0003 | t0009 | g0189 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01981 | hp2 | a0001 | c0003 | t0003 | g0219 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01993 | hp2 | a0001 | c0003 | t0009 | g0209 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02015 | hp2 | a0001 | c0004 | t0002 | g0264 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02027 | hp1 | a0001 | c0002 | t0008 | g0126 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02040 | hp1 | a0001 | c0002 | t0006 | g0149 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02040 | hp2 | a0001 | c0001 | t0007 | g0309 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02071 | hp1 | a0001 | c0001 | t0028 | g0022 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02071 | hp2 | a0001 | c0002 | t0006 | g0154 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02074 | hp2 | a0001 | c0004 | t0002 | g0260 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02080 | hp2 | a0001 | c0002 | t0008 | g0140 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02083 | hp2 | a0001 | c0001 | t0007 | g0326 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02132 | hp1 | a0001 | c0002 | t0006 | g0128 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02132 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02145 | hp1 | a0001 | c0003 | t0003 | g0198 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02145 | hp2 | a0001 | c0004 | t0010 | g0237 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02165 | hp1 | a0001 | c0001 | t0007 | g0078 | EAS | CDX | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02165 | hp2 | a0001 | c0002 | t0006 | g0171 | EAS | CDX | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02257 | hp1 | a0001 | c0004 | t0002 | g0294 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02258 | hp1 | a0001 | c0003 | t0003 | g0230 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02258 | hp2 | a0001 | c0005 | t0005 | g0277 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02273 | hp1 | a0001 | c0001 | t0029 | g0047 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02273 | hp2 | a0001 | c0003 | t0009 | g0206 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02280 | hp1 | a0001 | c0001 | t0016 | g0173 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02280 | hp2 | a0001 | c0002 | t0004 | g0150 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0082 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02293 | hp2 | a0001 | c0003 | t0009 | g0202 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02300 | hp1 | a0001 | c0003 | t0009 | g0221 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02300 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PEL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02451 | hp1 | a0001 | c0001 | t0016 | g0175 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02523 | hp1 | a0001 | c0003 | t0003 | g0212 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02523 | hp2 | a0001 | c0001 | t0034 | g0045 | EAS | KHV | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02572 | hp1 | a0001 | c0005 | t0005 | g0271 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02572 | hp2 | a0001 | c0001 | t0032 | g0241 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02615 | hp1 | a0001 | c0005 | t0005 | g0287 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02615 | hp2 | a0001 | c0001 | t0019 | g0182 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02622 | hp1 | a0001 | c0005 | t0005 | g0273 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02622 | hp2 | a0001 | c0004 | t0002 | g0158 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02647 | hp1 | a0001 | c0003 | t0003 | g0216 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02647 | hp2 | a0001 | c0005 | t0005 | g0341 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02717 | hp1 | a0001 | c0001 | t0042 | g0345 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02717 | hp2 | a0003 | c0014 | t0014 | g0200 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0295 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02723 | hp2 | a0001 | c0005 | t0005 | g0270 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02735 | hp1 | a0001 | c0002 | t0006 | g0155 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0093 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02738 | hp1 | a0001 | c0003 | t0018 | g0348 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02738 | hp2 | a0002 | c0008 | t0001 | g0292 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02809 | hp1 | a0001 | c0002 | t0004 | g0135 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02809 | hp2 | a0001 | c0005 | t0005 | g0276 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02818 | hp1 | a0001 | c0005 | t0005 | g0343 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02818 | hp2 | a0001 | c0002 | t0004 | g0125 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02886 | hp1 | a0001 | c0005 | t0005 | g0269 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02886 | hp2 | a0001 | c0004 | t0012 | g0168 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02895 | hp1 | a0001 | c0004 | t0010 | g0234 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02895 | hp2 | a0001 | c0005 | t0005 | g0337 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02896 | hp1 | a0001 | c0001 | t0011 | g0133 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02896 | hp2 | a0001 | c0004 | t0010 | g0233 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02897 | hp1 | a0001 | c0005 | t0005 | g0338 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02897 | hp2 | a0001 | c0001 | t0011 | g0132 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02922 | hp1 | a0001 | c0004 | t0012 | g0167 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02922 | hp2 | a0001 | c0001 | t0004 | g0299 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02965 | hp1 | a0001 | c0004 | t0010 | g0238 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02965 | hp2 | a0001 | c0004 | t0012 | g0163 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02970 | hp2 | a0001 | c0001 | t0016 | g0174 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02976 | hp1 | a0001 | c0004 | t0002 | g0300 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0297 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03017 | hp1 | a0001 | c0002 | t0006 | g0100 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03017 | hp2 | a0001 | c0003 | t0003 | g0229 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03041 | hp1 | a0001 | c0004 | t0012 | g0164 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03041 | hp2 | a0001 | c0013 | t0003 | g0199 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03098 | hp2 | a0001 | c0004 | t0002 | g0301 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03130 | hp1 | a0001 | c0005 | t0005 | g0342 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03130 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03139 | hp1 | a0001 | c0003 | t0010 | g0001 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03139 | hp2 | a0001 | c0002 | t0004 | g0138 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03195 | hp1 | a0001 | c0003 | t0003 | g0224 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03195 | hp2 | a0001 | c0005 | t0005 | g0344 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03209 | hp1 | a0001 | c0002 | t0004 | g0136 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03209 | hp2 | a0001 | c0001 | t0043 | g0180 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03225 | hp1 | a0001 | c0002 | t0004 | g0134 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03225 | hp2 | a0001 | c0005 | t0005 | g0268 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03239 | hp1 | a0001 | c0005 | t0005 | g0286 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03239 | hp2 | a0001 | c0003 | t0018 | g0176 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03453 | hp1 | a0001 | c0001 | t0019 | g0181 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03453 | hp2 | a0001 | c0005 | t0037 | g0267 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03486 | hp1 | a0001 | c0005 | t0005 | g0272 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03486 | hp2 | a0001 | c0002 | t0004 | g0124 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03490 | hp1 | a0001 | c0003 | t0003 | g0217 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03490 | hp2 | a0001 | c0002 | t0004 | g0102 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03492 | hp1 | a0001 | c0003 | t0003 | g0194 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03492 | hp2 | a0001 | c0002 | t0006 | g0146 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03516 | hp1 | a0001 | c0002 | t0004 | g0123 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03516 | hp2 | a0001 | c0004 | t0022 | g0239 | AFR | ESN | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03540 | hp1 | a0001 | c0005 | t0005 | g0282 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | GWD | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03654 | hp1 | a0001 | c0004 | t0002 | g0245 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03654 | hp2 | a0001 | c0002 | t0006 | g0059 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03669 | hp1 | a0001 | c0001 | t0001 | g0303 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03669 | hp2 | a0001 | c0001 | t0001 | g0302 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03688 | hp1 | a0001 | c0003 | t0003 | g0184 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03688 | hp2 | a0001 | c0001 | t0024 | g0037 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03710 | hp1 | a0001 | c0002 | t0004 | g0312 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0087 | SAS | PJL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03834 | hp1 | a0001 | c0003 | t0014 | g0325 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0118 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03927 | hp1 | a0001 | c0003 | t0003 | g0203 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0039 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03942 | hp1 | a0001 | c0011 | t0035 | g0172 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03942 | hp2 | a0001 | c0003 | t0013 | g0186 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0032 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04115 | hp2 | a0001 | c0002 | t0004 | g0103 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04184 | hp1 | a0001 | c0004 | t0002 | g0244 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04184 | hp2 | a0001 | c0002 | t0006 | g0127 | SAS | BEB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0024 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04199 | hp2 | a0001 | c0003 | t0003 | g0210 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04204 | hp1 | a0001 | c0003 | t0003 | g0218 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0076 | SAS | STU | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18522 | hp1 | a0001 | c0005 | t0005 | g0278 | AFR | YRI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18522 | hp2 | a0001 | c0001 | t0045 | g0179 | AFR | YRI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18612 | hp1 | a0001 | c0002 | t0008 | g0145 | EAS | CHB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18612 | hp2 | a0001 | c0004 | t0002 | g0004 | EAS | CHB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18906 | hp1 | a0001 | c0002 | t0026 | g0139 | AFR | YRI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18906 | hp2 | a0001 | c0003 | t0003 | g0196 | AFR | YRI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18939 | hp1 | a0001 | c0004 | t0002 | g0248 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18940 | hp1 | a0001 | c0001 | t0007 | g0333 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18940 | hp2 | a0001 | c0002 | t0006 | g0096 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18941 | hp2 | a0001 | c0001 | t0007 | g0324 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18942 | hp1 | a0001 | c0002 | t0002 | g0097 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18942 | hp2 | a0001 | c0002 | t0006 | g0044 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18943 | hp1 | a0001 | c0002 | t0031 | g0131 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18943 | hp2 | a0001 | c0004 | t0002 | g0256 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18945 | hp2 | a0001 | c0002 | t0041 | g0190 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18950 | hp1 | a0001 | c0002 | t0006 | g0098 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18950 | hp2 | a0001 | c0004 | t0002 | g0265 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18951 | hp1 | a0001 | c0002 | t0008 | g0144 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18952 | hp2 | a0001 | c0002 | t0004 | g0320 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18953 | hp1 | a0001 | c0002 | t0006 | g0095 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18953 | hp2 | a0001 | c0001 | t0007 | g0321 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18954 | hp1 | a0001 | c0002 | t0004 | g0319 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18954 | hp2 | a0001 | c0004 | t0002 | g0255 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18957 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18957 | hp2 | a0001 | c0002 | t0006 | g0130 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18959 | hp2 | a0001 | c0002 | t0006 | g0148 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18960 | hp1 | a0001 | c0002 | t0004 | g0120 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18961 | hp2 | a0001 | c0001 | t0007 | g0317 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18964 | hp2 | a0001 | c0002 | t0006 | g0143 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18965 | hp1 | a0001 | c0002 | t0008 | g0007 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18965 | hp2 | a0001 | c0003 | t0014 | g0009 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18966 | hp1 | a0001 | c0004 | t0002 | g0263 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18967 | hp1 | a0001 | c0004 | t0002 | g0252 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18969 | hp2 | a0001 | c0002 | t0004 | g0116 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18970 | hp2 | a0001 | c0002 | t0001 | g0331 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18973 | hp1 | a0001 | c0004 | t0002 | g0336 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18973 | hp2 | a0001 | c0001 | t0007 | g0323 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18975 | hp1 | a0001 | c0001 | t0033 | g0298 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18977 | hp1 | a0001 | c0001 | t0004 | g0115 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18977 | hp2 | a0001 | c0004 | t0002 | g0092 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18980 | hp1 | a0001 | c0002 | t0004 | g0308 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18980 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18981 | hp2 | a0001 | c0002 | t0020 | g0161 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18983 | hp1 | a0001 | c0001 | t0007 | g0310 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18983 | hp2 | a0001 | c0004 | t0002 | g0004 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18989 | hp1 | a0001 | c0002 | t0006 | g0099 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18989 | hp2 | a0001 | c0003 | t0014 | g0008 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18990 | hp2 | a0001 | c0001 | t0007 | g0322 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18991 | hp1 | a0001 | c0004 | t0002 | g0005 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18991 | hp2 | a0001 | c0002 | t0006 | g0036 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18995 | hp1 | a0001 | c0002 | t0006 | g0038 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18995 | hp2 | a0001 | c0002 | t0008 | g0141 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18999 | hp1 | a0001 | c0002 | t0008 | g0153 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA18999 | hp2 | a0001 | c0001 | t0001 | g0335 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19002 | hp1 | a0001 | c0002 | t0008 | g0151 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19002 | hp2 | a0001 | c0004 | t0002 | g0253 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19005 | hp1 | a0001 | c0004 | t0002 | g0156 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19007 | hp2 | a0001 | c0002 | t0004 | g0119 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19010 | hp1 | a0001 | c0004 | t0002 | g0258 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19011 | hp1 | a0001 | c0004 | t0002 | g0259 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19030 | hp1 | a0001 | c0002 | t0004 | g0104 | AFR | LWK | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19030 | hp2 | a0001 | c0004 | t0010 | g0236 | AFR | LWK | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19043 | hp1 | a0001 | c0001 | t0030 | g0012 | AFR | LWK | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19043 | hp2 | a0001 | c0004 | t0002 | g0242 | AFR | LWK | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19054 | hp1 | a0001 | c0002 | t0006 | g0332 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19054 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19056 | hp1 | a0001 | c0001 | t0004 | g0110 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19056 | hp2 | a0001 | c0004 | t0002 | g0243 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19057 | hp1 | a0001 | c0002 | t0008 | g0142 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19057 | hp2 | a0001 | c0001 | t0007 | g0311 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19058 | hp1 | a0001 | c0002 | t0008 | g0160 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19058 | hp2 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19062 | hp2 | a0001 | c0001 | t0007 | g0306 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19063 | hp1 | a0001 | c0001 | t0007 | g0314 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19063 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19064 | hp2 | a0001 | c0001 | t0007 | g0334 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19065 | hp1 | a0001 | c0003 | t0044 | g0192 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19065 | hp2 | a0001 | c0002 | t0008 | g0152 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19067 | hp1 | a0001 | c0001 | t0001 | g0318 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19067 | hp2 | a0001 | c0001 | t0007 | g0026 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19072 | hp2 | a0001 | c0004 | t0002 | g0266 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19079 | hp1 | a0001 | c0001 | t0027 | g0083 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19079 | hp2 | a0001 | c0002 | t0004 | g0328 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19082 | hp1 | a0001 | c0001 | t0007 | g0313 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19083 | hp2 | a0001 | c0001 | t0007 | g0330 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19085 | hp2 | a0001 | c0002 | t0004 | g0304 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19086 | hp1 | a0001 | c0002 | t0006 | g0006 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19086 | hp2 | a0004 | c0010 | t0004 | g0107 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19088 | hp1 | a0001 | c0001 | t0004 | g0105 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19088 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19090 | hp1 | a0001 | c0004 | t0002 | g0169 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA19090 | hp2 | a0001 | c0004 | t0002 | g0261 | EAS | JPT | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20129 | hp1 | a0001 | c0005 | t0005 | g0274 | AFR | ASW | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20129 | hp2 | a0001 | c0003 | t0009 | g0003 | AFR | ASW | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20752 | hp1 | a0001 | c0003 | t0003 | g0227 | EUR | TSI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20752 | hp2 | a0001 | c0005 | t0038 | g0283 | EUR | TSI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0114 | EUR | TSI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20805 | hp2 | a0001 | c0003 | t0013 | g0225 | EUR | TSI | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0043 | SAS | GIH | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20905 | hp2 | a0001 | c0003 | t0003 | g0205 | SAS | GIH | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01123 | hp1 | a0001 | c0003 | t0009 | g0220 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0296 | AMR | CLM | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02109 | hp1 | a0001 | c0005 | t0005 | g0279 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02109 | hp2 | a0001 | c0003 | t0003 | g0215 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02486 | hp1 | a0001 | c0005 | t0005 | g0275 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02486 | hp2 | a0001 | c0001 | t0021 | g0235 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02559 | hp1 | a0001 | c0003 | t0003 | g0223 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03471 | hp1 | a0001 | c0003 | t0010 | g0001 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG03471 | hp2 | a0001 | c0001 | t0001 | g0165 | AFR | MSL | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG06807 | hp1 | a0001 | c0003 | t0003 | g0197 | AFR | USA | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
HG06807 | hp2 | a0001 | c0007 | t0011 | g0246 | AFR | USA | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20300 | hp1 | a0001 | c0002 | t0004 | g0101 | AFR | USA | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0053 | AFR | USA | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA21309 | hp1 | a0001 | c0002 | t0023 | g0162 | AFR | LWK | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
NA21309 | hp2 | a0001 | c0004 | t0039 | g0232 | AFR | LWK | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
homoSapiens | chm13v2 | a0001 | c0005 | t0036 | g0288 | REF | REF | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
homoSapiens | grch38p0 | a0001 | c0003 | t0003 | g0183 | REF | REF | RABEP1_chr17_5277284_5391340 | RABEP1 | chr17 | 5277284 | 5391340 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:5354393 | A | C | 1 | a0003 | 1 | HG02717.hp2 | missense_variant | MODERATE | c.998A>C | p.Lys333Thr | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/18 | 1201/5909 | 998/2589 | 333/862 | chr17 | 5354393 | |||
chr17:5368468 | G | C | 1 | a0002 | 4 | HG01069.hp1 HG01071.hp1 HG01975.hp2 others(1): Show |
missense_variant&splice_region_variant | MODERATE | c.1884G>C | p.Met628Ile | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/18 | 2087/5909 | 1884/2589 | 628/862 | chr17 | 5368468 | |||
chr17:5383167 | C | T | 1 | a0004 | 1 | NA19086.hp2 | missense_variant | MODERATE | c.2533C>T | p.Arg845Trp | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2736/5909 | 2533/2589 | 845/862 | chr17 | 5383167 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:5332004 | C | T | 2 | a0001c0013 a0003c0014 |
2 | HG02717.hp2 HG03041.hp2 |
synonymous_variant | LOW | c.219C>T | p.His73His | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/18 | 422/5909 | 219/2589 | 73/862 | chr17 | 5332004 | |||
chr17:5361615 | T | C | 1 | a0001c0007 | 1 | HG06807.hp2 | synonymous_variant | LOW | c.1503T>C | p.Tyr501Tyr | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/18 | 1706/5909 | 1503/2589 | 501/862 | chr17 | 5361615 | |||
chr17:5361621 | C | T | 1 | a0001c0005 | 28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
synonymous_variant | LOW | c.1509C>T | p.Ser503Ser | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/18 | 1712/5909 | 1509/2589 | 503/862 | chr17 | 5361621 | |||
chr17:5368384 | C | T | 1 | a0001c0012 | 1 | HG00099.hp2 | synonymous_variant | LOW | c.1800C>T | p.Val600Val | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/18 | 2003/5909 | 1800/2589 | 600/862 | chr17 | 5368384 | |||
chr17:5373316 | G | A | 1 | a0001c0009 | 1 | HG00280.hp1 | splice_region_variant&synonymous_variant | LOW | c.1887G>A | p.Ala629Ala | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/18 | 2090/5909 | 1887/2589 | 629/862 | chr17 | 5373316 | |||
chr17:5377145 | T | C | 4 | a0001c0001 a0001c0007 a0001c0009 others(1): Show |
139 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
synonymous_variant | LOW | c.2055T>C | p.Arg685Arg | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/18 | 2258/5909 | 2055/2589 | 685/862 | chr17 | 5377145 | |||
chr17:5381403 | A | G | 8 | a0001c0001 a0001c0002 a0001c0007 others(5): Show |
213 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(210): Show |
synonymous_variant | LOW | c.2385A>G | p.Gln795Gln | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/18 | 2588/5909 | 2385/2589 | 795/862 | chr17 | 5381403 | |||
chr17:5381424 | T | C | 8 | a0001c0001 a0001c0002 a0001c0007 others(5): Show |
213 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(210): Show |
synonymous_variant | LOW | c.2406T>C | p.Asn802Asn | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/18 | 2609/5909 | 2406/2589 | 802/862 | chr17 | 5381424 | |||
chr17:5381475 | G | A | 10 | a0001c0001 a0001c0002 a0001c0004 others(7): Show |
264 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(261): Show |
synonymous_variant | LOW | c.2457G>A | p.Arg819Arg | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/18 | 2660/5909 | 2457/2589 | 819/862 | chr17 | 5381475 | |||
chr17:5383136 | G | T | 1 | a0001c0011 | 1 | HG03942.hp1 | synonymous_variant | LOW | c.2502G>T | p.Arg834Arg | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2705/5909 | 2502/2589 | 834/862 | chr17 | 5383136 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:5282310 | G | A | 1 | a0001c0002t0020 | 1 | NA18981.hp2 | 5_prime_UTR_variant | MODIFIER | c.-177G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | 177 | chr17 | 5282310 | ||||||
chr17:5282326 | G | A | 2 | a0001c0001t0021 a0001c0004t0022 |
2 | HG02486.hp2 HG03516.hp2 |
5_prime_UTR_variant | MODIFIER | c.-161G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | 161 | chr17 | 5282326 | ||||||
chr17:5282354 | C | A | 1 | a0001c0002t0008 | 11 | HG02027.hp1 HG02080.hp2 NA18612.hp1 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-133C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | 133 | chr17 | 5282354 | ||||||
chr17:5282369 | T | C | 43 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(40): Show |
290 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(287): Show |
5_prime_UTR_variant | MODIFIER | c.-118T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | 118 | chr17 | 5282369 | ||||||
chr17:5282385 | C | A | 1 | a0001c0003t0009 | 10 | HG01071.hp2 HG01123.hp1 HG01496.hp2 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-102C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | 102 | chr17 | 5282385 | ||||||
chr17:5282443 | C | T | 1 | a0001c0002t0040 | 1 | HG00673.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-44C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/18 | chr17 | 5282443 | |||||||
chr17:5383230 | C | G | 7 | a0001c0001t0016 a0001c0001t0019 a0001c0001t0045 others(4): Show |
15 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*7C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 7 | chr17 | 5383230 | ||||||
chr17:5383397 | T | C | 43 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(40): Show |
261 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
3_prime_UTR_variant | MODIFIER | c.*174T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 174 | chr17 | 5383397 | ||||||
chr17:5383404 | A | G | 1 | a0001c0011t0035 | 1 | HG03942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*181A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 181 | chr17 | 5383404 | ||||||
chr17:5383438 | A | G | 1 | a0001c0001t0034 | 1 | HG02523.hp2 | 3_prime_UTR_variant | MODIFIER | c.*215A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 215 | chr17 | 5383438 | ||||||
chr17:5383456 | T | A | 1 | a0001c0002t0023 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*233T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 233 | chr17 | 5383456 | ||||||
chr17:5383495 | G | A | 1 | a0001c0004t0039 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*272G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 272 | chr17 | 5383495 | ||||||
chr17:5383523 | C | G | 1 | a0001c0001t0033 | 1 | NA18975.hp1 | 3_prime_UTR_variant | MODIFIER | c.*300C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 300 | chr17 | 5383523 | ||||||
chr17:5383546 | T | C | 1 | a0001c0001t0024 | 1 | HG03688.hp2 | 3_prime_UTR_variant | MODIFIER | c.*323T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 323 | chr17 | 5383546 | ||||||
chr17:5383549 | C | T | 1 | a0001c0001t0032 | 1 | HG02572.hp2 | 3_prime_UTR_variant | MODIFIER | c.*326C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 326 | chr17 | 5383549 | ||||||
chr17:5383738 | A | ATTTCCCT others(12): Show |
47 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(44): Show |
295 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
3_prime_UTR_variant | MODIFIER | c.*518_*519insCCCTTG others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 519 | INFO_REALIGN_3_PRIME | chr17 | 5383738 | |||||
chr17:5383759 | TTTATC | T | 47 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(44): Show |
295 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
3_prime_UTR_variant | MODIFIER | c.*544_*548delATCTT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 544 | INFO_REALIGN_3_PRIME | chr17 | 5383759 | |||||
chr17:5383977 | AG | A | 39 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(36): Show |
221 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(218): Show |
3_prime_UTR_variant | MODIFIER | c.*757delG | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 757 | INFO_REALIGN_3_PRIME | chr17 | 5383977 | |||||
chr17:5384062 | A | G | 4 | a0001c0001t0016 a0001c0001t0019 a0001c0001t0043 others(1): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*839A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 839 | chr17 | 5384062 | ||||||
chr17:5384095 | G | A | 1 | a0002c0006t0015 | 3 | HG01069.hp1 HG01071.hp1 HG01975.hp2 |
3_prime_UTR_variant | MODIFIER | c.*872G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 872 | chr17 | 5384095 | ||||||
chr17:5384191 | C | T | 2 | a0001c0001t0019 a0001c0001t0043 |
3 | HG02615.hp2 HG03209.hp2 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*968C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 968 | chr17 | 5384191 | ||||||
chr17:5384265 | C | T | 1 | a0001c0001t0007 | 19 | HG00423.hp2 HG00438.hp1 HG02040.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*1042C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1042 | chr17 | 5384265 | ||||||
chr17:5384572 | C | G | 1 | a0001c0004t0017 | 2 | HG01167.hp2 HG01169.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1349C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1349 | chr17 | 5384572 | ||||||
chr17:5384626 | G | C | 1 | a0001c0003t0013 | 5 | HG01074.hp1 HG01081.hp1 HG01516.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1403G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1403 | chr17 | 5384626 | ||||||
chr17:5384698 | G | A | 35 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(32): Show |
212 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
3_prime_UTR_variant | MODIFIER | c.*1475G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1475 | chr17 | 5384698 | ||||||
chr17:5384723 | A | G | 1 | a0001c0002t0031 | 1 | NA18943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1500A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1500 | chr17 | 5384723 | ||||||
chr17:5384753 | A | G | 35 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(32): Show |
212 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
3_prime_UTR_variant | MODIFIER | c.*1530A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1530 | chr17 | 5384753 | ||||||
chr17:5384762 | ATTATT | A | 34 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(31): Show |
211 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(208): Show |
3_prime_UTR_variant | MODIFIER | c.*1543_*1547delTTTT others(1): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1543 | INFO_REALIGN_3_PRIME | chr17 | 5384762 | |||||
chr17:5384767 | T | C | 1 | a0001c0002t0025 | 1 | HG01358.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1544T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1544 | chr17 | 5384767 | ||||||
chr17:5384859 | A | T | 16 | a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(13): Show |
128 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(125): Show |
3_prime_UTR_variant | MODIFIER | c.*1636A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1636 | chr17 | 5384859 | ||||||
chr17:5384869 | A | G | 1 | a0001c0003t0044 | 1 | NA19065.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1646A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1646 | chr17 | 5384869 | ||||||
chr17:5384883 | C | T | 35 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(32): Show |
212 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
3_prime_UTR_variant | MODIFIER | c.*1660C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1660 | chr17 | 5384883 | ||||||
chr17:5384920 | C | T | 1 | a0001c0001t0027 | 1 | NA19079.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1697C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1697 | chr17 | 5384920 | ||||||
chr17:5385059 | G | C | 3 | a0001c0001t0019 a0001c0001t0043 a0001c0001t0045 |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1836G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1836 | chr17 | 5385059 | ||||||
chr17:5385170 | T | A | 1 | a0001c0001t0028 | 1 | HG02071.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1947T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1947 | chr17 | 5385170 | ||||||
chr17:5385172 | T | C | 4 | a0001c0001t0011 a0001c0001t0032 a0001c0007t0011 others(1): Show |
6 | HG00280.hp1 HG01884.hp1 HG02572.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1949T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1949 | chr17 | 5385172 | ||||||
chr17:5385190 | T | C | 1 | a0001c0001t0029 | 1 | HG02273.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1967T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 1967 | chr17 | 5385190 | ||||||
chr17:5385440 | A | G | 35 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(32): Show |
185 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(182): Show |
3_prime_UTR_variant | MODIFIER | c.*2217A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2217 | chr17 | 5385440 | ||||||
chr17:5385449 | CA | C | 31 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(28): Show |
176 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
3_prime_UTR_variant | MODIFIER | c.*2227delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2227 | chr17 | 5385449 | ||||||
chr17:5385458 | C | G | 1 | a0001c0001t0016 | 3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2235C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2235 | chr17 | 5385458 | ||||||
chr17:5385474 | G | C | 31 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(28): Show |
176 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
3_prime_UTR_variant | MODIFIER | c.*2251G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2251 | chr17 | 5385474 | ||||||
chr17:5385488 | T | C | 1 | a0001c0004t0017 | 2 | HG01167.hp2 HG01169.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2265T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2265 | chr17 | 5385488 | ||||||
chr17:5385558 | A | G | 1 | a0001c0005t0038 | 1 | NA20752.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2335A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2335 | chr17 | 5385558 | ||||||
chr17:5385663 | T | C | 44 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(41): Show |
267 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
3_prime_UTR_variant | MODIFIER | c.*2440T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2440 | chr17 | 5385663 | ||||||
chr17:5385699 | G | C | 1 | a0001c0001t0028 | 1 | HG02071.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2476G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2476 | chr17 | 5385699 | ||||||
chr17:5385708 | G | A | 31 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(28): Show |
176 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
3_prime_UTR_variant | MODIFIER | c.*2485G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2485 | chr17 | 5385708 | ||||||
chr17:5385903 | ATAAC | A | 35 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(32): Show |
212 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
3_prime_UTR_variant | MODIFIER | c.*2686_*2689delAACT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2686 | INFO_REALIGN_3_PRIME | chr17 | 5385903 | |||||
chr17:5386122 | A | G | 1 | a0001c0002t0026 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2899A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 2899 | chr17 | 5386122 | ||||||
chr17:5386260 | A | G | 39 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(36): Show |
221 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(218): Show |
3_prime_UTR_variant | MODIFIER | c.*3037A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 18/18 | 3037 | chr17 | 5386260 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:5282580 | G | T | 1 | a0001c0003t0018g0348 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.34+60G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282580 | |||||||
chr17:5282687 | G | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+167G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282687 | |||||||
chr17:5282725 | G | C | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+205G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282725 | |||||||
chr17:5282744 | G | T | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.34+224G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282744 | |||||||
chr17:5282821 | G | T | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.34+301G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282821 | |||||||
chr17:5282925 | C | A | 1 | a0001c0004t0002g0005 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.34+405C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282925 | |||||||
chr17:5282938 | C | G | 104 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(101): Show |
105 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(102): Show |
intron_variant | MODIFIER | c.34+418C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282938 | |||||||
chr17:5282992 | A | G | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+472A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5282992 | |||||||
chr17:5283166 | T | A | 1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.34+646T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5283166 | |||||||
chr17:5283597 | G | A | 273 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(270): Show |
276 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(273): Show |
intron_variant | MODIFIER | c.34+1077G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5283597 | |||||||
chr17:5283602 | G | A | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.34+1082G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5283602 | |||||||
chr17:5283618 | A | C | 1 | a0001c0003t0003g0230 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.34+1098A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5283618 | |||||||
chr17:5284168 | T | C | 1 | a0001c0003t0018g0176 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.34+1648T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284168 | |||||||
chr17:5284478 | T | G | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+1958T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284478 | |||||||
chr17:5284534 | T | TGGCTCAC others(9): Show |
1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+2016_34+2031dup others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5284534 | ||||||
chr17:5284578 | T | C | 285 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(282): Show |
288 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(285): Show |
intron_variant | MODIFIER | c.34+2058T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284578 | |||||||
chr17:5284694 | G | A | 1 | a0001c0002t0006g0006 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.34+2174G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284694 | |||||||
chr17:5284723 | C | T | 1 | a0001c0003t0003g0229 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.34+2203C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284723 | |||||||
chr17:5284851 | T | TA | 100 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(97): Show |
102 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.34+2345dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5284851 | ||||||
chr17:5284961 | T | C | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.34+2441T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284961 | |||||||
chr17:5284976 | T | A | 29 | a0001c0001t0001g0257 a0001c0002t0004g0101 a0001c0003t0013g0177 others(26): Show |
30 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.34+2456T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284976 | |||||||
chr17:5284976 | TA | T | 8 | a0001c0002t0006g0100 a0001c0002t0006g0171 a0001c0003t0003g0226 others(5): Show |
8 | HG01167.hp1 HG01516.hp2 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.34+2469delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5284976 | ||||||
chr17:5284977 | A | T | 5 | a0001c0005t0005g0341 a0001c0005t0005g0342 a0001c0005t0005g0343 others(2): Show |
5 | HG02647.hp2 HG02818.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.34+2457A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284977 | |||||||
chr17:5284988 | A | T | 2 | a0002c0006t0015g0339 a0002c0006t0015g0340 |
2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.34+2468A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5284988 | |||||||
chr17:5285081 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.34+2561A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5285081 | |||||||
chr17:5285105 | T | G | 1 | a0001c0004t0002g0005 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.34+2585T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5285105 | |||||||
chr17:5285357 | C | T | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.34+2837C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5285357 | |||||||
chr17:5285476 | C | T | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.34+2956C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5285476 | |||||||
chr17:5285667 | A | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.34+3147A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5285667 | |||||||
chr17:5285868 | TATC | T | 285 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(282): Show |
288 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(285): Show |
intron_variant | MODIFIER | c.34+3351_34+3353del others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5285868 | ||||||
chr17:5286121 | T | C | 22 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(19): Show |
22 | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.34+3601T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286121 | |||||||
chr17:5286132 | T | A | 1 | a0001c0004t0002g0005 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.34+3612T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286132 | |||||||
chr17:5286135 | C | T | 1 | a0001c0004t0002g0005 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.34+3615C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286135 | |||||||
chr17:5286217 | C | T | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.34+3697C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286217 | |||||||
chr17:5286236 | C | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.34+3716C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286236 | |||||||
chr17:5286279 | A | G | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.34+3759A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286279 | |||||||
chr17:5286287 | C | T | 21 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0243 others(18): Show |
22 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.34+3767C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286287 | |||||||
chr17:5286313 | G | A | 1 | a0001c0001t0045g0179 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.34+3793G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286313 | |||||||
chr17:5286321 | C | G | 257 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(254): Show |
260 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
intron_variant | MODIFIER | c.34+3801C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286321 | |||||||
chr17:5286361 | G | A | 1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.34+3841G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286361 | |||||||
chr17:5286448 | C | T | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.34+3928C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286448 | |||||||
chr17:5286450 | T | C | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+3930T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286450 | |||||||
chr17:5286498 | A | T | 1 | a0001c0001t0001g0335 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.34+3978A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286498 | |||||||
chr17:5286506 | GTTGTA | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.34+3991_34+3995del others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5286506 | ||||||
chr17:5286783 | A | T | 1 | a0001c0002t0020g0161 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.34+4263A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286783 | |||||||
chr17:5286798 | C | T | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.34+4278C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286798 | |||||||
chr17:5286813 | C | T | 281 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(278): Show |
284 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(281): Show |
intron_variant | MODIFIER | c.34+4293C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286813 | |||||||
chr17:5286836 | A | G | 7 | a0001c0002t0002g0097 a0001c0002t0006g0006 a0001c0002t0006g0094 others(4): Show |
7 | HG00438.hp2 NA18940.hp2 NA18942.hp1 others(4): Show |
intron_variant | MODIFIER | c.34+4316A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286836 | |||||||
chr17:5286860 | A | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.34+4340A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286860 | |||||||
chr17:5286949 | T | C | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.34+4429T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286949 | |||||||
chr17:5286950 | A | G | 52 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(49): Show |
53 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.34+4430A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5286950 | |||||||
chr17:5287050 | T | G | 345 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(342): Show |
349 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
intron_variant | MODIFIER | c.34+4530T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287050 | |||||||
chr17:5287069 | C | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.34+4549C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287069 | |||||||
chr17:5287135 | G | C | 2 | a0001c0002t0004g0102 a0001c0002t0004g0103 |
2 | HG03490.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.34+4615G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287135 | |||||||
chr17:5287167 | G | A | 54 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(51): Show |
55 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.34+4647G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287167 | |||||||
chr17:5287242 | T | C | 2 | a0001c0004t0010g0233 a0001c0004t0010g0234 |
2 | HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.34+4722T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287242 | |||||||
chr17:5287322 | A | G | 97 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(94): Show |
99 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.34+4802A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287322 | |||||||
chr17:5287428 | A | G | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.34+4908A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287428 | |||||||
chr17:5287470 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.34+4950G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287470 | |||||||
chr17:5287476 | G | A | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+4956G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287476 | |||||||
chr17:5287494 | G | T | 1 | a0001c0002t0008g0160 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.34+4974G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287494 | |||||||
chr17:5287598 | CA | C | 83 | a0001c0001t0001g0011 a0001c0001t0001g0106 a0001c0001t0001g0165 others(80): Show |
85 | HG00544.hp2 HG00642.hp1 HG00673.hp1 others(82): Show |
intron_variant | MODIFIER | c.34+5103delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287598 | CAA | C | 78 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(75): Show |
79 | HG00099.hp2 HG00609.hp2 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.34+5102_34+5103del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287598 | CAAA | C | 9 | a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 others(6): Show |
9 | HG00280.hp1 HG01123.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.34+5101_34+5103del others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287598 | CAAAA | C | 26 | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 others(23): Show |
26 | HG00280.hp2 HG00438.hp2 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.34+5100_34+5103del others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287598 | CAAAAA | C | 70 | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(67): Show |
71 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(68): Show |
intron_variant | MODIFIER | c.34+5099_34+5103del others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287598 | CAAAAAA | C | 30 | a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0327 others(27): Show |
30 | HG00438.hp1 HG01069.hp1 HG01071.hp1 others(27): Show |
intron_variant | MODIFIER | c.34+5098_34+5103del others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287598 | CAAAAAAA others(5): Show |
C | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.34+5092_34+5103del others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287598 | ||||||
chr17:5287618 | A | C | 1 | a0001c0005t0005g0289 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.34+5098A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287618 | |||||||
chr17:5287685 | C | T | 1 | a0001c0003t0003g0229 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.34+5165C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287685 | |||||||
chr17:5287911 | C | CAAAAAAA others(19): Show |
1 | a0001c0003t0003g0184 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.34+5401_34+5402ins others(26): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5287911 | ||||||
chr17:5287930 | A | G | 283 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(280): Show |
286 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(283): Show |
intron_variant | MODIFIER | c.34+5410A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287930 | |||||||
chr17:5287962 | T | C | 1 | a0001c0001t0001g0039 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.34+5442T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287962 | |||||||
chr17:5287983 | T | C | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.34+5463T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5287983 | |||||||
chr17:5288026 | C | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+5506C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288026 | |||||||
chr17:5288056 | G | T | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.34+5536G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288056 | |||||||
chr17:5288232 | T | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.34+5712T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288232 | |||||||
chr17:5288319 | G | T | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.34+5799G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288319 | |||||||
chr17:5288571 | T | G | 1 | a0001c0001t0001g0040 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.34+6051T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288571 | |||||||
chr17:5288642 | G | A | 1 | a0001c0007t0011g0246 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.34+6122G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288642 | |||||||
chr17:5288686 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.34+6166C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288686 | |||||||
chr17:5288831 | G | A | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+6311G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288831 | |||||||
chr17:5288862 | C | T | 2 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | HG02451.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.34+6342C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288862 | |||||||
chr17:5288870 | A | AT | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.34+6357dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5288870 | ||||||
chr17:5288988 | G | C | 1 | a0001c0001t0030g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.34+6468G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5288988 | |||||||
chr17:5289050 | T | G | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.34+6530T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289050 | |||||||
chr17:5289129 | C | T | 1 | a0001c0004t0002g0092 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.34+6609C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289129 | |||||||
chr17:5289174 | T | C | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.34+6654T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289174 | |||||||
chr17:5289177 | C | T | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.34+6657C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289177 | |||||||
chr17:5289195 | A | G | 1 | a0001c0003t0003g0201 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.34+6675A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289195 | |||||||
chr17:5289366 | G | GT | 3 | a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0007g0334 |
3 | HG00423.hp2 NA19062.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.34+6850dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5289366 | ||||||
chr17:5289414 | C | A | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.34+6894C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289414 | |||||||
chr17:5289419 | CT | C | 59 | a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0170 others(56): Show |
59 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.34+6915delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5289419 | ||||||
chr17:5289436 | A | T | 28 | a0001c0001t0001g0157 a0001c0002t0004g0150 a0001c0002t0006g0127 others(25): Show |
28 | HG00609.hp2 HG01884.hp2 HG02027.hp1 others(25): Show |
intron_variant | MODIFIER | c.34+6916A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289436 | |||||||
chr17:5289484 | ACT | A | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.34+6968_34+6969del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5289484 | ||||||
chr17:5289584 | A | G | 7 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(4): Show |
7 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.34+7064A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289584 | |||||||
chr17:5289661 | A | G | 54 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(51): Show |
55 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.34+7141A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289661 | |||||||
chr17:5289738 | A | G | 2 | a0001c0005t0005g0337 a0001c0005t0005g0338 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.34+7218A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289738 | |||||||
chr17:5289765 | A | G | 1 | a0001c0001t0016g0175 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.34+7245A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289765 | |||||||
chr17:5289837 | T | G | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.34+7317T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289837 | |||||||
chr17:5289854 | C | G | 1 | a0001c0004t0002g0259 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.34+7334C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289854 | |||||||
chr17:5289928 | T | C | 27 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(24): Show |
28 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.34+7408T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5289928 | |||||||
chr17:5290002 | C | G | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+7482C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290002 | |||||||
chr17:5290016 | C | G | 2 | a0001c0001t0001g0011 a0001c0001t0001g0016 |
2 | HG02257.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.34+7496C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290016 | |||||||
chr17:5290083 | A | G | 1 | a0001c0005t0005g0287 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.34+7563A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290083 | |||||||
chr17:5290091 | A | G | 2 | a0001c0002t0006g0154 a0001c0002t0006g0155 |
2 | HG02071.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.34+7571A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290091 | |||||||
chr17:5290150 | C | T | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.34+7630C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290150 | |||||||
chr17:5290173 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.34+7653C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290173 | |||||||
chr17:5290236 | C | T | 1 | a0001c0002t0006g0100 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.34+7716C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290236 | |||||||
chr17:5290367 | C | T | 97 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(94): Show |
99 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.34+7847C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290367 | |||||||
chr17:5290383 | C | G | 271 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(268): Show |
274 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(271): Show |
intron_variant | MODIFIER | c.34+7863C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290383 | |||||||
chr17:5290463 | C | T | 97 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(94): Show |
99 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.34+7943C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290463 | |||||||
chr17:5290518 | A | G | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.34+7998A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290518 | |||||||
chr17:5290576 | G | A | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.34+8056G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290576 | |||||||
chr17:5290592 | A | C | 4 | a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0121 others(1): Show |
4 | HG01069.hp2 HG01074.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.34+8072A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290592 | |||||||
chr17:5290705 | A | G | 1 | a0001c0001t0001g0019 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.34+8185A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290705 | |||||||
chr17:5290891 | G | C | 1 | a0001c0001t0001g0041 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.34+8371G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290891 | |||||||
chr17:5290933 | G | A | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.34+8413G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290933 | |||||||
chr17:5290954 | A | G | 63 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.34+8434A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290954 | |||||||
chr17:5290955 | T | C | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+8435T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5290955 | |||||||
chr17:5291149 | A | G | 283 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(280): Show |
286 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(283): Show |
intron_variant | MODIFIER | c.34+8629A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291149 | |||||||
chr17:5291212 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.34+8692C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291212 | |||||||
chr17:5291238 | G | A | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+8718G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291238 | |||||||
chr17:5291244 | A | C | 12 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0025g0240 others(9): Show |
12 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.34+8724A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291244 | |||||||
chr17:5291283 | A | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.34+8763A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291283 | |||||||
chr17:5291368 | T | C | 271 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(268): Show |
274 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(271): Show |
intron_variant | MODIFIER | c.34+8848T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291368 | |||||||
chr17:5291539 | C | T | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.34+9019C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291539 | |||||||
chr17:5291566 | T | C | 129 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(126): Show |
131 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(128): Show |
intron_variant | MODIFIER | c.34+9046T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291566 | |||||||
chr17:5291650 | G | A | 1 | a0001c0002t0026g0139 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.34+9130G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291650 | |||||||
chr17:5291679 | A | G | 280 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(277): Show |
283 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(280): Show |
intron_variant | MODIFIER | c.34+9159A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291679 | |||||||
chr17:5291886 | A | G | 54 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(51): Show |
55 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.34+9366A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5291886 | |||||||
chr17:5292067 | A | C | 1 | a0001c0001t0001g0039 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.34+9547A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292067 | |||||||
chr17:5292324 | A | G | 5 | a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 others(2): Show |
5 | HG00738.hp2 HG01515.hp1 HG01517.hp1 others(2): Show |
intron_variant | MODIFIER | c.34+9804A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292324 | |||||||
chr17:5292458 | G | T | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.34+9938G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292458 | |||||||
chr17:5292492 | G | C | 1 | a0001c0001t0001g0042 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.34+9972G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292492 | |||||||
chr17:5292509 | C | T | 6 | a0001c0002t0004g0101 a0001c0002t0004g0124 a0001c0002t0004g0125 others(3): Show |
6 | HG01891.hp1 HG02818.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.34+9989C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292509 | |||||||
chr17:5292556 | G | A | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.34+10036G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292556 | |||||||
chr17:5292636 | G | C | 1 | a0001c0001t0001g0017 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.34+10116G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292636 | |||||||
chr17:5292774 | C | T | 48 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(45): Show |
48 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(45): Show |
intron_variant | MODIFIER | c.34+10254C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292774 | |||||||
chr17:5292782 | G | C | 1 | a0001c0007t0011g0246 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.34+10262G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292782 | |||||||
chr17:5292835 | C | T | 1 | a0001c0005t0005g0274 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.34+10315C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292835 | |||||||
chr17:5292845 | C | T | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.34+10325C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292845 | |||||||
chr17:5292858 | T | G | 1 | a0001c0001t0030g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.34+10338T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292858 | |||||||
chr17:5292921 | A | G | 1 | a0001c0001t0030g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.34+10401A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5292921 | |||||||
chr17:5293069 | C | T | 2 | a0001c0013t0003g0199 a0003c0014t0014g0200 |
2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.34+10549C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293069 | |||||||
chr17:5293087 | C | T | 266 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(263): Show |
269 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(266): Show |
intron_variant | MODIFIER | c.34+10567C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293087 | |||||||
chr17:5293114 | C | T | 57 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(54): Show |
57 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.34+10594C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293114 | |||||||
chr17:5293115 | C | A | 2 | a0001c0002t0004g0304 a0001c0002t0004g0308 |
2 | NA18980.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.34+10595C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293115 | |||||||
chr17:5293115 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.34+10595C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293115 | |||||||
chr17:5293253 | C | T | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.34+10733C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293253 | |||||||
chr17:5293281 | C | A | 57 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(54): Show |
57 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.34+10761C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293281 | |||||||
chr17:5293294 | C | CA | 7 | a0001c0001t0001g0020 a0001c0004t0010g0233 a0001c0004t0010g0234 others(4): Show |
7 | HG02145.hp2 HG02738.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.34+10785dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5293294 | ||||||
chr17:5293315 | C | T | 31 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(28): Show |
31 | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.34+10795C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293315 | |||||||
chr17:5293325 | A | C | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.34+10805A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293325 | |||||||
chr17:5293327 | A | G | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+10807A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293327 | |||||||
chr17:5293506 | A | G | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34+10986A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293506 | |||||||
chr17:5293598 | A | C | 1 | a0001c0004t0002g0158 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.34+11078A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293598 | |||||||
chr17:5293830 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.34+11310T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5293830 | |||||||
chr17:5294092 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.34+11572C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294092 | |||||||
chr17:5294093 | C | T | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.34+11573C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294093 | |||||||
chr17:5294108 | G | A | 1 | a0001c0005t0037g0267 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.34+11588G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294108 | |||||||
chr17:5294271 | C | T | 1 | a0001c0005t0005g0282 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.34+11751C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294271 | |||||||
chr17:5294429 | G | A | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.34+11909G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294429 | |||||||
chr17:5294457 | A | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.34+11937A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294457 | |||||||
chr17:5294547 | A | G | 1 | a0001c0001t0033g0298 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.34+12027A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294547 | |||||||
chr17:5294580 | CT | C | 265 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(262): Show |
268 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(265): Show |
intron_variant | MODIFIER | c.34+12061delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294580 | |||||||
chr17:5294633 | C | CTTTTT | 14 | a0001c0002t0041g0190 a0001c0003t0003g0185 a0001c0003t0003g0187 others(11): Show |
14 | HG01167.hp1 HG01175.hp2 HG01255.hp1 others(11): Show |
intron_variant | MODIFIER | c.34+12141_34+12145d others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | C | CTTTTTT | 16 | a0001c0003t0003g0184 a0001c0003t0003g0191 a0001c0003t0003g0193 others(13): Show |
17 | HG00408.hp2 HG01071.hp2 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.34+12140_34+12145d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | C | CTTTTTTT | 12 | a0001c0003t0003g0194 a0001c0003t0003g0214 a0001c0003t0003g0215 others(9): Show |
12 | HG01123.hp1 HG01433.hp1 HG01981.hp2 others(9): Show |
intron_variant | MODIFIER | c.34+12139_34+12145d others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | C | CTTTTTTT others(1): Show |
9 | a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 others(6): Show |
9 | HG00733.hp1 HG00741.hp2 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.34+12138_34+12145d others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTT | C | 12 | a0001c0001t0001g0327 a0001c0001t0007g0322 a0001c0001t0007g0323 others(9): Show |
12 | HG00438.hp1 HG01433.hp2 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.34+12144_34+12145d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTT | C | 66 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 others(63): Show |
66 | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(63): Show |
intron_variant | MODIFIER | c.34+12143_34+12145d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTT | C | 8 | a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0093 others(5): Show |
8 | HG01167.hp2 HG02523.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.34+12141_34+12145d others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTTTT others(4): Show |
C | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.34+12135_34+12145d others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTTTT others(7): Show |
C | 2 | a0001c0005t0005g0280 a0001c0005t0005g0281 |
2 | HG01109.hp1 HG01243.hp1 |
intron_variant | MODIFIER | c.34+12132_34+12145d others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTTTT others(8): Show |
C | 28 | a0001c0001t0001g0043 a0001c0002t0023g0162 a0001c0005t0005g0268 others(25): Show |
28 | HG00738.hp2 HG01515.hp1 HG01517.hp1 others(25): Show |
intron_variant | MODIFIER | c.34+12131_34+12145d others(17): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTTTT others(9): Show |
C | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.34+12130_34+12145d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTTTT others(10): Show |
C | 22 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(19): Show |
22 | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.34+12129_34+12145d others(19): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294633 | CTTTTTTT others(11): Show |
C | 2 | a0001c0004t0012g0163 a0001c0004t0012g0164 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.34+12128_34+12145d others(20): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5294633 | ||||||
chr17:5294740 | T | C | 3 | a0001c0004t0002g0249 a0001c0004t0002g0254 a0001c0004t0002g0262 |
3 | HG00642.hp1 HG01175.hp1 HG01361.hp1 |
intron_variant | MODIFIER | c.34+12220T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294740 | |||||||
chr17:5294746 | T | C | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(284): Show |
intron_variant | MODIFIER | c.34+12226T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294746 | |||||||
chr17:5294765 | A | G | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.34+12245A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294765 | |||||||
chr17:5294777 | A | G | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.34+12257A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294777 | |||||||
chr17:5294796 | T | C | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(284): Show |
intron_variant | MODIFIER | c.34+12276T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294796 | |||||||
chr17:5294797 | G | A | 2 | a0001c0003t0014g0008 a0001c0003t0014g0009 |
2 | NA18965.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.34+12277G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294797 | |||||||
chr17:5294808 | A | G | 1 | a0001c0002t0041g0190 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.34+12288A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294808 | |||||||
chr17:5294860 | G | C | 2 | a0001c0003t0014g0008 a0001c0003t0014g0009 |
2 | NA18965.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.34+12340G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294860 | |||||||
chr17:5294874 | C | G | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+12354C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294874 | |||||||
chr17:5294941 | C | T | 1 | a0001c0001t0001g0303 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.34+12421C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5294941 | |||||||
chr17:5295000 | G | T | 283 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(280): Show |
286 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(283): Show |
intron_variant | MODIFIER | c.34+12480G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295000 | |||||||
chr17:5295113 | G | A | 1 | a0001c0002t0041g0190 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.34+12593G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295113 | |||||||
chr17:5295147 | C | T | 1 | a0001c0003t0003g0193 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.34+12627C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295147 | |||||||
chr17:5295276 | A | G | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.34+12756A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295276 | |||||||
chr17:5295299 | C | G | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34+12779C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295299 | |||||||
chr17:5295358 | C | A | 103 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(100): Show |
104 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.34+12838C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295358 | |||||||
chr17:5295383 | C | A | 1 | a0001c0002t0006g0059 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.34+12863C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295383 | |||||||
chr17:5295388 | C | CA | 100 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(97): Show |
101 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.34+12883dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5295388 | ||||||
chr17:5295388 | CA | C | 13 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0023g0162 others(10): Show |
13 | HG00280.hp1 HG01243.hp2 HG01358.hp1 others(10): Show |
intron_variant | MODIFIER | c.34+12883delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5295388 | ||||||
chr17:5295452 | T | C | 27 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(24): Show |
28 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.34+12932T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295452 | |||||||
chr17:5295491 | A | AT | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.34+12978dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5295491 | ||||||
chr17:5295499 | C | G | 4 | a0001c0001t0032g0241 a0001c0002t0023g0162 a0001c0002t0025g0240 others(1): Show |
4 | HG00280.hp1 HG01358.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.34+12979C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295499 | |||||||
chr17:5295544 | TAAATA | T | 61 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(58): Show |
61 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.34+13025_34+13029d others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295544 | |||||||
chr17:5295743 | G | A | 271 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(268): Show |
274 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(271): Show |
intron_variant | MODIFIER | c.35-12951G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295743 | |||||||
chr17:5295756 | G | A | 1 | a0002c0008t0001g0292 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.35-12938G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295756 | |||||||
chr17:5295805 | C | T | 53 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(50): Show |
54 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(51): Show |
intron_variant | MODIFIER | c.35-12889C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295805 | |||||||
chr17:5295896 | T | C | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.35-12798T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295896 | |||||||
chr17:5295918 | T | G | 2 | a0001c0001t0001g0060 a0001c0001t0007g0026 |
2 | NA18951.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.35-12776T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295918 | |||||||
chr17:5295919 | T | C | 1 | a0001c0001t0001g0061 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.35-12775T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295919 | |||||||
chr17:5295971 | A | G | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.35-12723A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5295971 | |||||||
chr17:5296011 | C | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(284): Show |
intron_variant | MODIFIER | c.35-12683C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296011 | |||||||
chr17:5296018 | T | G | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.35-12676T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296018 | |||||||
chr17:5296102 | T | A | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(284): Show |
intron_variant | MODIFIER | c.35-12592T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296102 | |||||||
chr17:5296156 | G | A | 1 | a0001c0002t0004g0104 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.35-12538G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296156 | |||||||
chr17:5296199 | G | C | 1 | a0001c0004t0002g0250 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.35-12495G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296199 | |||||||
chr17:5296281 | A | G | 345 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(342): Show |
349 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
intron_variant | MODIFIER | c.35-12413A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296281 | |||||||
chr17:5296329 | T | C | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | HG00423.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.35-12365T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296329 | |||||||
chr17:5296838 | G | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | HG00423.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.35-11856G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296838 | |||||||
chr17:5296858 | A | G | 2 | a0001c0003t0003g0193 a0001c0003t0003g0229 |
2 | HG01109.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.35-11836A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296858 | |||||||
chr17:5296937 | C | T | 61 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(58): Show |
61 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.35-11757C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5296937 | |||||||
chr17:5297016 | GC | G | 91 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(88): Show |
93 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(90): Show |
intron_variant | MODIFIER | c.35-11677delC | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297016 | |||||||
chr17:5297075 | C | T | 2 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | HG02451.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.35-11619C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297075 | |||||||
chr17:5297268 | A | C | 7 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0297 others(4): Show |
7 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.35-11426A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297268 | |||||||
chr17:5297638 | T | G | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.35-11056T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297638 | |||||||
chr17:5297639 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.35-11055T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297639 | |||||||
chr17:5297741 | T | A | 2 | a0001c0005t0005g0337 a0001c0005t0005g0338 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.35-10953T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297741 | |||||||
chr17:5297843 | A | G | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.35-10851A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297843 | |||||||
chr17:5297932 | G | C | 2 | a0001c0001t0011g0159 a0001c0004t0002g0158 |
2 | HG01884.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.35-10762G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5297932 | |||||||
chr17:5298094 | G | C | 1 | a0001c0002t0006g0044 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.35-10600G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298094 | |||||||
chr17:5298225 | A | T | 1 | a0001c0001t0001g0058 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.35-10469A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298225 | |||||||
chr17:5298227 | G | A | 259 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(256): Show |
262 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(259): Show |
intron_variant | MODIFIER | c.35-10467G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298227 | |||||||
chr17:5298292 | A | G | 14 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(11): Show |
14 | HG01243.hp2 HG02145.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.35-10402A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298292 | |||||||
chr17:5298503 | T | G | 1 | a0001c0005t0005g0268 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.35-10191T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298503 | |||||||
chr17:5298552 | C | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.35-10142C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298552 | |||||||
chr17:5298656 | AT | A | 259 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(256): Show |
262 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(259): Show |
intron_variant | MODIFIER | c.35-10021delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5298656 | ||||||
chr17:5298658 | T | C | 1 | a0001c0007t0011g0246 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.35-10036T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298658 | |||||||
chr17:5298677 | A | G | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.35-10017A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298677 | |||||||
chr17:5298686 | C | T | 1 | a0003c0014t0014g0200 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.35-10008C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298686 | |||||||
chr17:5298692 | G | T | 2 | a0001c0002t0008g0007 a0001c0002t0008g0160 |
2 | NA18965.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.35-10002G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298692 | |||||||
chr17:5298714 | A | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.35-9980A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298714 | |||||||
chr17:5298716 | C | T | 259 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(256): Show |
262 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(259): Show |
intron_variant | MODIFIER | c.35-9978C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298716 | |||||||
chr17:5298748 | C | T | 1 | a0001c0001t0019g0182 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.35-9946C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298748 | |||||||
chr17:5298769 | C | T | 2 | a0001c0001t0019g0181 a0001c0001t0043g0180 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.35-9925C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298769 | |||||||
chr17:5298778 | T | C | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.35-9916T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298778 | |||||||
chr17:5298815 | C | T | 3 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 |
3 | HG02451.hp2 HG02970.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.35-9879C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298815 | |||||||
chr17:5298901 | C | T | 198 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(195): Show |
201 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(198): Show |
intron_variant | MODIFIER | c.35-9793C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298901 | |||||||
chr17:5298951 | G | A | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.35-9743G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5298951 | |||||||
chr17:5299256 | A | G | 2 | a0001c0005t0005g0337 a0001c0005t0005g0338 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.35-9438A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299256 | |||||||
chr17:5299379 | G | GT | 10 | a0001c0001t0001g0019 a0001c0001t0001g0087 a0001c0001t0001g0091 others(7): Show |
10 | HG02145.hp1 HG03098.hp1 HG03516.hp2 others(7): Show |
intron_variant | MODIFIER | c.35-9299dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299379 | ||||||
chr17:5299379 | GT | G | 10 | a0001c0001t0001g0042 a0001c0001t0016g0173 a0001c0001t0016g0174 others(7): Show |
10 | HG01169.hp1 HG01169.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.35-9299delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299379 | ||||||
chr17:5299418 | A | G | 180 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(177): Show |
182 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(179): Show |
intron_variant | MODIFIER | c.35-9276A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299418 | |||||||
chr17:5299511 | G | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.35-9183G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299511 | |||||||
chr17:5299544 | G | T | 270 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(267): Show |
273 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(270): Show |
intron_variant | MODIFIER | c.35-9150G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299544 | |||||||
chr17:5299578 | C | A | 210 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(207): Show |
213 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(210): Show |
intron_variant | MODIFIER | c.35-9116C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299578 | |||||||
chr17:5299587 | G | GAATTCC | 209 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(206): Show |
212 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.35-9102_35-9101ins others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299587 | ||||||
chr17:5299627 | C | T | 97 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(94): Show |
98 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(95): Show |
intron_variant | MODIFIER | c.35-9067C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299627 | |||||||
chr17:5299674 | A | G | 160 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(157): Show |
162 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.35-9020A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299674 | |||||||
chr17:5299707 | T | C | 2 | a0001c0004t0002g0249 a0001c0004t0002g0262 |
2 | HG00642.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.35-8987T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299707 | |||||||
chr17:5299714 | CTTTTCTT others(5): Show |
C | 1 | a0001c0001t0001g0297 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.35-8969_35-8958del others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299714 | ||||||
chr17:5299719 | C | CT | 37 | a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0001g0335 others(34): Show |
37 | HG00738.hp2 HG00741.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.35-8970dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299719 | C | CTT | 11 | a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0303 others(8): Show |
11 | HG00423.hp2 HG00438.hp1 HG01123.hp2 others(8): Show |
intron_variant | MODIFIER | c.35-8971_35-8970dup others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299719 | C | CTTTTTTT | 6 | a0001c0004t0002g0004 a0001c0004t0002g0249 a0001c0004t0002g0250 others(3): Show |
6 | HG00642.hp1 HG01175.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.35-8970_35-8969ins others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299719 | C | CTTTTTTT others(1): Show |
9 | a0001c0001t0032g0241 a0001c0004t0002g0004 a0001c0004t0002g0247 others(6): Show |
9 | HG01943.hp1 HG02015.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.35-8970_35-8969ins others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299719 | C | CTTTTTTT others(2): Show |
7 | a0001c0001t0001g0257 a0001c0004t0002g0005 a0001c0004t0002g0244 others(4): Show |
7 | HG00609.hp1 HG00621.hp2 HG04184.hp1 others(4): Show |
intron_variant | MODIFIER | c.35-8970_35-8969ins others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299719 | C | CTTTTTTT others(3): Show |
4 | a0001c0004t0002g0245 a0001c0004t0002g0256 a0001c0004t0002g0260 others(1): Show |
4 | HG02074.hp2 HG03654.hp1 NA18943.hp2 others(1): Show |
intron_variant | MODIFIER | c.35-8970_35-8969ins others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299719 | C | CTTTTTTT others(5): Show |
2 | a0001c0002t0025g0240 a0001c0009t0011g0346 |
2 | HG00280.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.35-8970_35-8969ins others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299719 | ||||||
chr17:5299720 | TTTTTCTT others(4): Show |
T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.35-8969_35-8959del others(11): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299720 | ||||||
chr17:5299721 | T | TTTC | 12 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0025 others(9): Show |
12 | HG01928.hp1 HG02015.hp1 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.35-8971_35-8970ins others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299721 | ||||||
chr17:5299722 | T | TTC | 78 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 others(75): Show |
80 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.35-8971_35-8970ins others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299722 | ||||||
chr17:5299723 | T | TC | 8 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(5): Show |
8 | HG00423.hp1 HG01517.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.35-8971_35-8970ins others(1): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299723 | |||||||
chr17:5299725 | C | CT | 6 | a0001c0001t0001g0112 a0001c0002t0004g0101 a0001c0002t0004g0123 others(3): Show |
6 | HG01192.hp2 HG01884.hp2 HG02027.hp1 others(3): Show |
intron_variant | MODIFIER | c.35-8964dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299725 | ||||||
chr17:5299725 | C | T | 195 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(192): Show |
198 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(195): Show |
intron_variant | MODIFIER | c.35-8969C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299725 | |||||||
chr17:5299729 | TTC | T | 11 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(8): Show |
11 | HG02145.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.35-8963_35-8962del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299729 | ||||||
chr17:5299730 | TC | T | 8 | a0001c0001t0001g0111 a0001c0001t0011g0132 a0001c0001t0011g0133 others(5): Show |
8 | HG00738.hp1 HG01069.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.35-8963delC | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299730 | |||||||
chr17:5299731 | C | T | 253 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(250): Show |
256 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(253): Show |
intron_variant | MODIFIER | c.35-8963C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299731 | |||||||
chr17:5299747 | TG | T | 8 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(5): Show |
8 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.35-8945delG | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5299747 | ||||||
chr17:5299748 | G | T | 338 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(335): Show |
342 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
intron_variant | MODIFIER | c.35-8946G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299748 | |||||||
chr17:5299798 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-8896C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299798 | |||||||
chr17:5299799 | G | A | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.35-8895G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299799 | |||||||
chr17:5299803 | C | T | 97 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(94): Show |
98 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(95): Show |
intron_variant | MODIFIER | c.35-8891C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299803 | |||||||
chr17:5299886 | T | C | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.35-8808T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299886 | |||||||
chr17:5299973 | C | A | 54 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(51): Show |
55 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.35-8721C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5299973 | |||||||
chr17:5300017 | C | T | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.35-8677C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5300017 | |||||||
chr17:5300713 | G | A | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.35-7981G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5300713 | |||||||
chr17:5300714 | C | A | 1 | a0001c0005t0005g0280 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.35-7980C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5300714 | |||||||
chr17:5300901 | A | G | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.35-7793A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5300901 | |||||||
chr17:5301132 | A | G | 1 | a0001c0004t0002g0261 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.35-7562A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301132 | |||||||
chr17:5301351 | T | G | 1 | a0001c0004t0002g0247 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.35-7343T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301351 | |||||||
chr17:5301388 | A | G | 1 | a0001c0003t0013g0178 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.35-7306A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301388 | |||||||
chr17:5301396 | A | T | 8 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(5): Show |
8 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.35-7298A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301396 | |||||||
chr17:5301415 | T | A | 1 | a0001c0004t0002g0252 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.35-7279T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301415 | |||||||
chr17:5301425 | C | T | 1 | a0001c0002t0004g0136 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.35-7269C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301425 | |||||||
chr17:5301435 | G | A | 65 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(62): Show |
65 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.35-7259G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301435 | |||||||
chr17:5301499 | C | G | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.35-7195C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301499 | |||||||
chr17:5301559 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-7135A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301559 | |||||||
chr17:5301744 | C | G | 9 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(6): Show |
9 | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.35-6950C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301744 | |||||||
chr17:5301778 | A | C | 1 | a0001c0003t0009g0189 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.35-6916A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5301778 | |||||||
chr17:5302007 | ACT | A | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.35-6684_35-6683del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302007 | ||||||
chr17:5302072 | G | T | 1 | a0001c0001t0001g0302 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.35-6622G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302072 | |||||||
chr17:5302199 | C | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.35-6495C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302199 | |||||||
chr17:5302243 | C | CTTTTTTT others(4): Show |
1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.35-6451_35-6450ins others(11): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302243 | |||||||
chr17:5302244 | A | AT | 52 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(49): Show |
53 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.35-6436dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | ATTTTTTT others(3): Show |
32 | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0055 others(29): Show |
32 | HG00438.hp1 HG01109.hp1 HG01243.hp2 others(29): Show |
intron_variant | MODIFIER | c.35-6445_35-6436dup others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | ATTTTTTT others(4): Show |
14 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0019g0181 others(11): Show |
14 | HG00280.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
intron_variant | MODIFIER | c.35-6446_35-6436dup others(11): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | ATTTTTTT others(5): Show |
5 | a0001c0001t0011g0159 a0001c0002t0008g0160 a0001c0004t0002g0158 others(2): Show |
5 | HG00099.hp2 HG01884.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.35-6447_35-6436dup others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | ATTTTTTT others(6): Show |
46 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(43): Show |
46 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(43): Show |
intron_variant | MODIFIER | c.35-6448_35-6436dup others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | ATTTTTTT others(7): Show |
10 | a0001c0002t0004g0101 a0001c0002t0004g0120 a0001c0002t0004g0121 others(7): Show |
10 | HG01069.hp2 HG01074.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.35-6449_35-6436dup others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | ATTTTTTT others(8): Show |
3 | a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0008g0152 |
3 | HG01891.hp1 HG03209.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.35-6436_35-6435ins others(15): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302244 | ||||||
chr17:5302244 | A | T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.35-6450A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302244 | |||||||
chr17:5302275 | C | T | 68 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(65): Show |
68 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(65): Show |
intron_variant | MODIFIER | c.35-6419C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302275 | |||||||
chr17:5302591 | C | CT | 18 | a0001c0002t0004g0328 a0001c0003t0003g0187 a0001c0003t0003g0188 others(15): Show |
18 | HG01167.hp1 HG01167.hp2 HG01175.hp2 others(15): Show |
intron_variant | MODIFIER | c.35-6084dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302591 | ||||||
chr17:5302591 | CT | C | 16 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(13): Show |
17 | HG00438.hp2 HG01891.hp2 HG02027.hp1 others(14): Show |
intron_variant | MODIFIER | c.35-6084delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302591 | ||||||
chr17:5302591 | CTT | C | 90 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(87): Show |
91 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.35-6085_35-6084del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302591 | ||||||
chr17:5302735 | C | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.35-5959C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302735 | |||||||
chr17:5302899 | A | T | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.35-5795A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5302899 | |||||||
chr17:5302902 | A | AT | 14 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(11): Show |
14 | HG01243.hp2 HG02145.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.35-5784dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5302902 | ||||||
chr17:5303091 | G | T | 27 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(24): Show |
28 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.35-5603G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5303091 | |||||||
chr17:5303251 | A | T | 2 | a0001c0001t0001g0011 a0001c0001t0001g0016 |
2 | HG02257.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.35-5443A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5303251 | |||||||
chr17:5303402 | C | T | 1 | a0001c0002t0004g0119 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.35-5292C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5303402 | |||||||
chr17:5303889 | T | C | 2 | a0001c0001t0011g0159 a0001c0004t0002g0158 |
2 | HG01884.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.35-4805T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5303889 | |||||||
chr17:5304029 | C | T | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.35-4665C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304029 | |||||||
chr17:5304034 | C | CA | 63 | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0106 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.35-4648dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5304034 | ||||||
chr17:5304034 | CA | C | 8 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show |
9 | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.35-4648delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5304034 | ||||||
chr17:5304041 | A | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-4653A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304041 | |||||||
chr17:5304043 | A | AT | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(4): Show |
intron_variant | MODIFIER | c.35-4651_35-4650ins others(1): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304043 | |||||||
chr17:5304046 | AT | A | 53 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(50): Show |
54 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(51): Show |
intron_variant | MODIFIER | c.35-4647delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304046 | |||||||
chr17:5304047 | T | A | 1 | a0001c0002t0006g0143 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.35-4647T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304047 | |||||||
chr17:5304196 | C | G | 1 | a0001c0004t0002g0260 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.35-4498C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304196 | |||||||
chr17:5304266 | T | C | 1 | a0001c0003t0003g0229 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.35-4428T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304266 | |||||||
chr17:5304385 | GCCTGGCT others(71): Show |
G | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | HG00423.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.35-4306_35-4229del others(78): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5304385 | ||||||
chr17:5304438 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-4256C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304438 | |||||||
chr17:5304586 | G | GA | 8 | a0001c0001t0007g0309 a0001c0001t0007g0310 a0001c0001t0007g0311 others(5): Show |
8 | HG02040.hp2 NA18940.hp1 NA18953.hp2 others(5): Show |
intron_variant | MODIFIER | c.35-4095dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5304586 | ||||||
chr17:5304587 | A | G | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.35-4107A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304587 | |||||||
chr17:5304609 | G | A | 7 | a0001c0001t0004g0299 a0001c0003t0010g0001 a0001c0003t0010g0013 others(4): Show |
8 | HG01891.hp2 HG02257.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.35-4085G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304609 | |||||||
chr17:5304671 | G | A | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.35-4023G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304671 | |||||||
chr17:5304875 | C | G | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.35-3819C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5304875 | |||||||
chr17:5305103 | T | G | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.35-3591T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5305103 | |||||||
chr17:5305177 | A | T | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.35-3517A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5305177 | |||||||
chr17:5305217 | T | TG | 61 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(58): Show |
61 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.35-3476dupG | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5305217 | ||||||
chr17:5305226 | A | G | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.35-3468A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5305226 | |||||||
chr17:5305695 | A | G | 33 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(30): Show |
34 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(31): Show |
intron_variant | MODIFIER | c.35-2999A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5305695 | |||||||
chr17:5306046 | C | G | 1 | a0001c0002t0004g0137 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.35-2648C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306046 | |||||||
chr17:5306213 | AACAG | A | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.35-2479_35-2476del others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5306213 | ||||||
chr17:5306215 | C | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(59): Show |
intron_variant | MODIFIER | c.35-2479C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306215 | |||||||
chr17:5306341 | T | C | 1 | a0001c0002t0006g0094 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.35-2353T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306341 | |||||||
chr17:5306542 | T | C | 64 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(61): Show |
64 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.35-2152T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306542 | |||||||
chr17:5306560 | G | A | 11 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(8): Show |
11 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.35-2134G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306560 | |||||||
chr17:5306627 | G | GA | 178 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(175): Show |
180 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.35-2055dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5306627 | ||||||
chr17:5306627 | GA | G | 25 | a0001c0005t0005g0268 a0001c0005t0005g0270 a0001c0005t0005g0271 others(22): Show |
25 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.35-2055delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5306627 | ||||||
chr17:5306706 | G | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-1988G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306706 | |||||||
chr17:5306723 | G | T | 2 | a0001c0005t0005g0284 a0001c0005t0005g0285 |
2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.35-1971G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306723 | |||||||
chr17:5306760 | CT | C | 96 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(93): Show |
97 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(94): Show |
intron_variant | MODIFIER | c.35-1926delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5306760 | ||||||
chr17:5306857 | G | C | 7 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
7 | HG00642.hp2 HG01123.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.35-1837G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306857 | |||||||
chr17:5306957 | T | A | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.35-1737T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5306957 | |||||||
chr17:5307105 | G | A | 1 | a0001c0001t0033g0298 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.35-1589G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307105 | |||||||
chr17:5307124 | G | T | 1 | a0001c0005t0005g0280 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.35-1570G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307124 | |||||||
chr17:5307179 | G | A | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.35-1515G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307179 | |||||||
chr17:5307179 | G | C | 7 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
7 | HG00642.hp2 HG01123.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.35-1515G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307179 | |||||||
chr17:5307182 | G | T | 1 | a0001c0003t0044g0192 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.35-1512G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307182 | |||||||
chr17:5307185 | G | A | 3 | a0001c0002t0004g0123 a0001c0002t0004g0134 a0001c0002t0004g0135 |
3 | HG02809.hp1 HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.35-1509G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307185 | |||||||
chr17:5307194 | T | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-1500T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307194 | |||||||
chr17:5307517 | C | G | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.35-1177C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307517 | |||||||
chr17:5307589 | A | G | 1 | a0001c0013t0003g0199 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.35-1105A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307589 | |||||||
chr17:5307621 | A | T | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.35-1073A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307621 | |||||||
chr17:5307719 | A | C | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.35-975A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307719 | |||||||
chr17:5307779 | C | T | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.35-915C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307779 | |||||||
chr17:5307891 | A | G | 1 | a0001c0001t0024g0037 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.35-803A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5307891 | |||||||
chr17:5308106 | A | G | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.35-588A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5308106 | |||||||
chr17:5308228 | C | CT | 163 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(160): Show |
165 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.35-451dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5308228 | ||||||
chr17:5308283 | T | C | 1 | a0001c0005t0005g0273 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.35-411T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5308283 | |||||||
chr17:5308472 | C | T | 5 | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0081 others(2): Show |
5 | HG01192.hp1 HG01516.hp1 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.35-222C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | chr17 | 5308472 | |||||||
chr17:5308608 | C | CAATT | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.35-83_35-82insTAAT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | 5308608 | ||||||
chr17:5309351 | T | TAAAACAG others(312): Show |
1 | a0001c0004t0010g0237 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.163+544_163+545ins others(319): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5309351 | ||||||
chr17:5309351 | T | TAAAACAG others(311): Show |
3 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0238 |
3 | HG02895.hp1 HG02896.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.163+544_163+545ins others(318): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5309351 | ||||||
chr17:5309351 | T | TAAAACAG others(312): Show |
1 | a0001c0004t0010g0236 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.163+544_163+545ins others(319): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5309351 | ||||||
chr17:5309378 | G | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+556G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309378 | |||||||
chr17:5309407 | T | C | 1 | a0001c0002t0004g0119 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.163+585T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309407 | |||||||
chr17:5309411 | A | C | 1 | a0001c0001t0001g0090 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.163+589A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309411 | |||||||
chr17:5309429 | G | A | 1 | a0001c0002t0004g0119 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.163+607G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309429 | |||||||
chr17:5309454 | G | C | 1 | a0001c0001t0001g0015 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.163+632G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309454 | |||||||
chr17:5309618 | A | C | 1 | a0001c0004t0002g0245 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.163+796A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309618 | |||||||
chr17:5309631 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.163+809C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309631 | |||||||
chr17:5309670 | A | G | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.163+848A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309670 | |||||||
chr17:5309671 | G | A | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.163+849G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309671 | |||||||
chr17:5309707 | C | G | 1 | a0001c0001t0001g0058 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.163+885C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5309707 | |||||||
chr17:5310096 | C | T | 3 | a0001c0003t0013g0177 a0001c0003t0013g0178 a0001c0003t0013g0228 |
3 | HG01074.hp1 HG01081.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.163+1274C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310096 | |||||||
chr17:5310105 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.163+1283C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310105 | |||||||
chr17:5310257 | A | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.163+1435A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310257 | |||||||
chr17:5310299 | T | TG | 101 | a0001c0001t0001g0070 a0001c0001t0001g0157 a0001c0001t0001g0257 others(98): Show |
102 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.163+1477_163+1478i others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310299 | |||||||
chr17:5310300 | C | G | 184 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(181): Show |
186 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(183): Show |
intron_variant | MODIFIER | c.163+1478C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310300 | |||||||
chr17:5310301 | C | CTT | 106 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(103): Show |
108 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(105): Show |
intron_variant | MODIFIER | c.163+1496_163+1497d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | CTTTTTTT others(1): Show |
50 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(47): Show |
50 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(47): Show |
intron_variant | MODIFIER | c.163+1490_163+1497d others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | CTTTTTTT others(2): Show |
10 | a0001c0001t0011g0159 a0001c0002t0004g0103 a0001c0002t0004g0122 others(7): Show |
10 | HG01074.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.163+1489_163+1497d others(11): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | CTTTTTTT others(9): Show |
1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.163+1482_163+1497d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | CTTTTTTT others(11): Show |
1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.163+1480_163+1497d others(20): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | CTTTTTTT others(12): Show |
1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.163+1497_163+1498i others(21): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | CTTTTTTT others(23): Show |
1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.163+1497_163+1498i others(32): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310301 | ||||||
chr17:5310301 | C | T | 101 | a0001c0001t0001g0070 a0001c0001t0001g0157 a0001c0001t0001g0257 others(98): Show |
102 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.163+1479C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310301 | |||||||
chr17:5310400 | C | T | 1 | a0001c0005t0005g0279 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.163+1578C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310400 | |||||||
chr17:5310401 | G | A | 1 | a0001c0001t0001g0305 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.163+1579G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310401 | |||||||
chr17:5310564 | C | T | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.163+1742C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310564 | |||||||
chr17:5310648 | C | T | 1 | a0001c0001t0033g0298 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.163+1826C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310648 | |||||||
chr17:5310812 | A | AT | 62 | a0001c0001t0001g0019 a0001c0001t0001g0106 a0001c0001t0001g0111 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.163+2005dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310812 | ||||||
chr17:5310873 | G | C | 3 | a0001c0002t0004g0304 a0001c0002t0004g0308 a0001c0002t0004g0328 |
3 | NA18980.hp1 NA19079.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.163+2051G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310873 | |||||||
chr17:5310897 | C | T | 3 | a0001c0001t0001g0335 a0001c0002t0004g0319 a0001c0002t0004g0320 |
3 | NA18952.hp2 NA18954.hp1 NA18999.hp2 |
intron_variant | MODIFIER | c.163+2075C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5310897 | |||||||
chr17:5310909 | AAGCGACT others(8346): Show |
A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.163+2090_163+10442 others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5310909 | ||||||
chr17:5311090 | G | A | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.163+2268G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311090 | |||||||
chr17:5311285 | A | C | 1 | a0001c0001t0028g0022 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.163+2463A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311285 | |||||||
chr17:5311292 | T | A | 3 | a0001c0004t0010g0236 a0001c0004t0010g0237 a0001c0004t0010g0238 |
3 | HG02145.hp2 HG02965.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.163+2470T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311292 | |||||||
chr17:5311356 | T | G | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+2534T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311356 | |||||||
chr17:5311611 | G | A | 1 | a0001c0003t0003g0227 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.163+2789G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311611 | |||||||
chr17:5311629 | G | C | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+2807G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311629 | |||||||
chr17:5311697 | C | CA | 102 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(99): Show |
102 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(99): Show |
intron_variant | MODIFIER | c.163+2898dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5311697 | ||||||
chr17:5311697 | C | CAA | 33 | a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0051 others(30): Show |
34 | HG00423.hp2 HG00741.hp1 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.163+2897_163+2898d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5311697 | ||||||
chr17:5311697 | CA | C | 68 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(65): Show |
69 | HG00280.hp1 HG00544.hp2 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.163+2898delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5311697 | ||||||
chr17:5311741 | T | C | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.163+2919T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5311741 | |||||||
chr17:5312188 | T | C | 185 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(182): Show |
186 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(183): Show |
intron_variant | MODIFIER | c.163+3366T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312188 | |||||||
chr17:5312340 | A | G | 1 | a0001c0001t0001g0033 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.163+3518A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312340 | |||||||
chr17:5312350 | C | T | 1 | a0001c0005t0037g0267 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.163+3528C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312350 | |||||||
chr17:5312402 | C | T | 1 | a0001c0001t0001g0058 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.163+3580C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312402 | |||||||
chr17:5312417 | C | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.163+3595C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312417 | |||||||
chr17:5312586 | T | G | 1 | a0001c0003t0018g0348 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.163+3764T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312586 | |||||||
chr17:5312992 | C | T | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+4170C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5312992 | |||||||
chr17:5313069 | C | T | 1 | a0001c0001t0001g0076 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.163+4247C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313069 | |||||||
chr17:5313263 | A | G | 1 | a0001c0001t0001g0305 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.163+4441A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313263 | |||||||
chr17:5313502 | A | T | 1 | a0002c0008t0001g0292 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.163+4680A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313502 | |||||||
chr17:5313554 | T | C | 7 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
7 | HG00642.hp2 HG01123.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.163+4732T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313554 | |||||||
chr17:5313674 | C | T | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.163+4852C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313674 | |||||||
chr17:5313703 | A | G | 61 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(58): Show |
61 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.163+4881A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313703 | |||||||
chr17:5313746 | C | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+4924C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313746 | |||||||
chr17:5313772 | A | G | 1 | a0001c0001t0001g0062 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.163+4950A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313772 | |||||||
chr17:5313843 | A | G | 1 | a0001c0001t0001g0054 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.163+5021A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313843 | |||||||
chr17:5313884 | C | T | 168 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(165): Show |
169 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(166): Show |
intron_variant | MODIFIER | c.163+5062C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5313884 | |||||||
chr17:5314234 | C | CT | 169 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(166): Show |
173 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(170): Show |
intron_variant | MODIFIER | c.163+5438dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTT | 60 | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0048 others(57): Show |
60 | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(57): Show |
intron_variant | MODIFIER | c.163+5437_163+5438d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTTT | 10 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0293 others(7): Show |
10 | HG00280.hp1 HG00642.hp2 HG01433.hp2 others(7): Show |
intron_variant | MODIFIER | c.163+5436_163+5438d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTTTT | 7 | a0001c0001t0019g0181 a0001c0001t0043g0180 a0001c0004t0012g0163 others(4): Show |
7 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+5435_163+5438d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTTTTTTT others(3): Show |
6 | a0001c0005t0005g0270 a0001c0005t0005g0274 a0001c0005t0005g0276 others(3): Show |
6 | HG02258.hp2 HG02723.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+5429_163+5438d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTTTTTTT others(4): Show |
10 | a0001c0005t0005g0272 a0001c0005t0005g0273 a0001c0005t0005g0280 others(7): Show |
10 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.163+5428_163+5438d others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTTTTTTT others(5): Show |
5 | a0001c0005t0005g0269 a0001c0005t0005g0284 a0001c0005t0005g0285 others(2): Show |
5 | HG01515.hp1 HG01517.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.163+5427_163+5438d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | C | CTTTTTTT others(6): Show |
1 | a0001c0005t0005g0275 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.163+5426_163+5438d others(15): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | CTTTTTTT others(3): Show |
C | 1 | a0001c0004t0002g0336 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.163+5429_163+5438d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | CTTTTTTT others(4): Show |
C | 9 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(6): Show |
9 | HG01243.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.163+5428_163+5438d others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314234 | CTTTTTTT others(6): Show |
C | 1 | a0001c0003t0003g0219 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.163+5426_163+5438d others(15): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314234 | ||||||
chr17:5314282 | G | T | 1 | a0001c0002t0004g0104 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.163+5460G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314282 | |||||||
chr17:5314356 | C | A | 32 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(29): Show |
33 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(30): Show |
intron_variant | MODIFIER | c.163+5534C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314356 | |||||||
chr17:5314367 | T | C | 1 | a0001c0002t0006g0100 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.163+5545T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314367 | |||||||
chr17:5314520 | G | GT | 55 | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0057 others(52): Show |
55 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.163+5714dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5314520 | ||||||
chr17:5314588 | G | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+5766G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314588 | |||||||
chr17:5314590 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.163+5768C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314590 | |||||||
chr17:5314607 | C | T | 1 | a0001c0001t0001g0031 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.163+5785C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314607 | |||||||
chr17:5314624 | T | G | 1 | a0001c0005t0005g0276 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.163+5802T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314624 | |||||||
chr17:5314667 | C | T | 2 | a0001c0001t0004g0110 a0001c0001t0004g0115 |
2 | NA18977.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.163+5845C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314667 | |||||||
chr17:5314870 | T | C | 7 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(4): Show |
7 | HG02257.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+6048T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314870 | |||||||
chr17:5314927 | G | A | 7 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(4): Show |
7 | HG02257.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+6105G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314927 | |||||||
chr17:5314935 | T | C | 23 | a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0006g0130 others(20): Show |
23 | HG00609.hp2 HG02027.hp1 HG02040.hp1 others(20): Show |
intron_variant | MODIFIER | c.163+6113T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5314935 | |||||||
chr17:5315114 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.163+6292C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315114 | |||||||
chr17:5315236 | C | A | 8 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show |
9 | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.163+6414C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315236 | |||||||
chr17:5315278 | G | T | 103 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(100): Show |
104 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.163+6456G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315278 | |||||||
chr17:5315373 | A | G | 1 | a0001c0001t0001g0257 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.163+6551A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315373 | |||||||
chr17:5315376 | A | G | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.163+6554A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315376 | |||||||
chr17:5315445 | C | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.163+6623C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315445 | |||||||
chr17:5315481 | A | G | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.163+6659A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315481 | |||||||
chr17:5315702 | A | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+6880A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315702 | |||||||
chr17:5315704 | T | C | 2 | a0001c0002t0006g0128 a0001c0004t0002g0129 |
2 | HG01884.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.163+6882T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315704 | |||||||
chr17:5315758 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+6936A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315758 | |||||||
chr17:5315910 | T | C | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.163+7088T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5315910 | |||||||
chr17:5316140 | C | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.163+7318C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316140 | |||||||
chr17:5316152 | T | C | 1 | a0001c0001t0007g0026 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.163+7330T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316152 | |||||||
chr17:5316216 | C | T | 30 | a0001c0004t0017g0290 a0001c0004t0017g0291 a0001c0005t0005g0268 others(27): Show |
30 | HG00738.hp2 HG01109.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.163+7394C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316216 | |||||||
chr17:5316268 | T | C | 344 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(341): Show |
348 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show |
intron_variant | MODIFIER | c.163+7446T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316268 | |||||||
chr17:5316277 | C | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.163+7455C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316277 | |||||||
chr17:5316380 | G | T | 1 | a0001c0004t0002g0254 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.163+7558G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316380 | |||||||
chr17:5316428 | C | T | 6 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0017g0290 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+7606C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316428 | |||||||
chr17:5316449 | C | CA | 97 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(94): Show |
98 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.163+7653dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316449 | C | CAA | 66 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(63): Show |
67 | HG00408.hp2 HG00544.hp1 HG00733.hp1 others(64): Show |
intron_variant | MODIFIER | c.163+7652_163+7653d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316449 | C | CAAA | 37 | a0001c0002t0004g0101 a0001c0002t0004g0123 a0001c0002t0004g0124 others(34): Show |
37 | HG00099.hp2 HG00609.hp2 HG00741.hp2 others(34): Show |
intron_variant | MODIFIER | c.163+7651_163+7653d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316449 | C | CAAAA | 23 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0114 others(20): Show |
23 | HG00280.hp1 HG00544.hp2 HG00621.hp1 others(20): Show |
intron_variant | MODIFIER | c.163+7650_163+7653d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316449 | C | CAAAAA | 8 | a0001c0001t0001g0113 a0001c0001t0004g0105 a0001c0001t0011g0159 others(5): Show |
8 | HG00673.hp1 HG01069.hp2 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.163+7649_163+7653d others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316449 | CA | C | 33 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0007g0314 others(30): Show |
34 | HG00621.hp2 HG00642.hp1 HG01175.hp1 others(31): Show |
intron_variant | MODIFIER | c.163+7653delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316449 | CAAAAAAA others(5): Show |
C | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+7642_163+7653d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316449 | ||||||
chr17:5316491 | T | A | 65 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(62): Show |
65 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.163+7669T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316491 | |||||||
chr17:5316607 | C | T | 5 | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0081 others(2): Show |
5 | HG01192.hp1 HG01516.hp1 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.163+7785C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316607 | |||||||
chr17:5316808 | C | T | 1 | a0001c0005t0005g0268 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.163+7986C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316808 | |||||||
chr17:5316832 | C | CA | 8 | a0001c0003t0003g0219 a0001c0004t0002g0294 a0001c0004t0010g0233 others(5): Show |
8 | HG00099.hp2 HG01981.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.163+8034dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316832 | ||||||
chr17:5316832 | C | CAA | 21 | a0001c0004t0010g0236 a0001c0005t0005g0270 a0001c0005t0005g0272 others(18): Show |
21 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.163+8033_163+8034d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316832 | ||||||
chr17:5316832 | C | CAAA | 6 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0271 others(3): Show |
6 | HG02572.hp1 HG02647.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.163+8032_163+8034d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316832 | ||||||
chr17:5316832 | CA | C | 157 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(154): Show |
160 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(157): Show |
intron_variant | MODIFIER | c.163+8034delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316832 | ||||||
chr17:5316832 | CAA | C | 51 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0034 others(48): Show |
52 | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(49): Show |
intron_variant | MODIFIER | c.163+8033_163+8034d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316832 | ||||||
chr17:5316832 | CAAA | C | 58 | a0001c0001t0001g0075 a0001c0001t0001g0106 a0001c0001t0001g0111 others(55): Show |
58 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(55): Show |
intron_variant | MODIFIER | c.163+8032_163+8034d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5316832 | ||||||
chr17:5316855 | A | T | 12 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(9): Show |
12 | HG00280.hp1 HG00642.hp2 HG01123.hp2 others(9): Show |
intron_variant | MODIFIER | c.163+8033A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316855 | |||||||
chr17:5316857 | T | A | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.163+8035T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316857 | |||||||
chr17:5316880 | G | A | 27 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(24): Show |
28 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.163+8058G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316880 | |||||||
chr17:5316899 | A | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.163+8077A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316899 | |||||||
chr17:5316908 | T | A | 7 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
7 | HG00642.hp2 HG01123.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.163+8086T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316908 | |||||||
chr17:5316927 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.163+8105T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5316927 | |||||||
chr17:5317030 | G | A | 65 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(62): Show |
65 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.163+8208G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317030 | |||||||
chr17:5317045 | C | T | 65 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(62): Show |
65 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.163+8223C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317045 | |||||||
chr17:5317120 | C | T | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+8298C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317120 | |||||||
chr17:5317433 | G | C | 90 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(87): Show |
91 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.163+8611G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317433 | |||||||
chr17:5317492 | C | G | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+8670C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317492 | |||||||
chr17:5317558 | G | A | 1 | a0001c0001t0001g0296 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.163+8736G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317558 | |||||||
chr17:5317626 | G | GATATAT | 25 | a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0134 others(22): Show |
25 | HG00609.hp2 HG02027.hp1 HG02040.hp1 others(22): Show |
intron_variant | MODIFIER | c.163+8821_163+8826d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | G | GATATATA others(1): Show |
13 | a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0002t0004g0101 others(10): Show |
13 | HG00738.hp1 HG01884.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.163+8819_163+8826d others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | G | GATATATA others(3): Show |
7 | a0001c0001t0001g0114 a0001c0002t0004g0108 a0001c0002t0004g0121 others(4): Show |
7 | HG00544.hp2 HG00673.hp1 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+8817_163+8826d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | G | GATATATA others(5): Show |
4 | a0001c0002t0004g0116 a0001c0002t0004g0120 a0001c0002t0020g0161 others(1): Show |
4 | NA18960.hp1 NA18969.hp2 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.163+8815_163+8826d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | G | GATATATA others(7): Show |
7 | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0004g0110 others(4): Show |
7 | HG00621.hp1 HG01192.hp2 HG01358.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+8813_163+8826d others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | G | GATATATA others(9): Show |
3 | a0001c0001t0001g0113 a0001c0001t0011g0159 a0001c0004t0002g0158 |
3 | HG01081.hp2 HG01884.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.163+8811_163+8826d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | G | GATATATA others(17): Show |
1 | a0001c0001t0004g0105 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.163+8826_163+8827i others(26): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | GATAT | G | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.163+8823_163+8826d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | GATATAT | G | 180 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(177): Show |
182 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(179): Show |
intron_variant | MODIFIER | c.163+8821_163+8826d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317626 | GATATATA others(1): Show |
G | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.163+8819_163+8826d others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5317626 | ||||||
chr17:5317734 | G | A | 6 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0017g0290 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+8912G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317734 | |||||||
chr17:5317840 | G | A | 108 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(105): Show |
109 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.163+9018G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317840 | |||||||
chr17:5317842 | A | G | 108 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(105): Show |
109 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.163+9020A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5317842 | |||||||
chr17:5318016 | G | A | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.163+9194G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318016 | |||||||
chr17:5318066 | T | C | 6 | a0001c0004t0002g0004 a0001c0004t0002g0243 a0001c0004t0002g0251 others(3): Show |
7 | HG00621.hp2 NA18612.hp2 NA18966.hp1 others(4): Show |
intron_variant | MODIFIER | c.163+9244T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318066 | |||||||
chr17:5318239 | C | G | 186 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(183): Show |
187 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(184): Show |
intron_variant | MODIFIER | c.163+9417C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318239 | |||||||
chr17:5318379 | A | G | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.163+9557A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318379 | |||||||
chr17:5318595 | T | C | 2 | a0001c0001t0011g0132 a0001c0001t0011g0133 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.163+9773T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318595 | |||||||
chr17:5318700 | C | A | 26 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(23): Show |
27 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+9878C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318700 | |||||||
chr17:5318700 | C | G | 1 | a0001c0007t0011g0246 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.163+9878C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318700 | |||||||
chr17:5318776 | C | T | 60 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(57): Show |
60 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(57): Show |
intron_variant | MODIFIER | c.163+9954C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318776 | |||||||
chr17:5318880 | G | C | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.163+10058G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5318880 | |||||||
chr17:5319010 | A | G | 5 | a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0077 others(2): Show |
5 | NA18957.hp1 NA18960.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.163+10188A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319010 | |||||||
chr17:5319053 | C | T | 1 | a0001c0001t0007g0314 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.163+10231C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319053 | |||||||
chr17:5319155 | C | A | 1 | a0001c0004t0002g0264 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.163+10333C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319155 | |||||||
chr17:5319265 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.163+10443A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319265 | |||||||
chr17:5319327 | C | CA | 50 | a0001c0002t0041g0190 a0001c0003t0003g0184 a0001c0003t0003g0185 others(47): Show |
51 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.163+10519dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5319327 | ||||||
chr17:5319327 | CA | C | 264 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(261): Show |
267 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(264): Show |
intron_variant | MODIFIER | c.163+10519delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5319327 | ||||||
chr17:5319327 | CAAAAA | C | 7 | a0001c0001t0032g0241 a0001c0002t0004g0120 a0001c0002t0004g0121 others(4): Show |
7 | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+10515_163+1051 others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5319327 | ||||||
chr17:5319338 | A | C | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.163+10516A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319338 | |||||||
chr17:5319341 | A | C | 1 | a0001c0005t0005g0268 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.163+10519A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319341 | |||||||
chr17:5319342 | C | A | 1 | a0001c0005t0005g0268 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.163+10520C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319342 | |||||||
chr17:5319346 | A | C | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.163+10524A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319346 | |||||||
chr17:5319350 | C | A | 1 | a0001c0005t0005g0268 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.163+10528C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319350 | |||||||
chr17:5319350 | CA | C | 103 | a0001c0001t0001g0021 a0001c0001t0001g0165 a0001c0001t0001g0166 others(100): Show |
104 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(101): Show |
intron_variant | MODIFIER | c.163+10540delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5319350 | ||||||
chr17:5319350 | CAAAAA | C | 59 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(56): Show |
59 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.163+10536_163+1054 others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5319350 | ||||||
chr17:5319354 | A | C | 1 | a0001c0001t0001g0032 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.163+10532A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319354 | |||||||
chr17:5319355 | A | C | 7 | a0001c0001t0032g0241 a0001c0002t0004g0120 a0001c0002t0004g0121 others(4): Show |
7 | HG00099.hp2 HG00280.hp1 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.163+10533A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319355 | |||||||
chr17:5319358 | A | C | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.163+10536A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319358 | |||||||
chr17:5319362 | A | C | 3 | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0002t0006g0036 |
3 | NA18981.hp1 NA18991.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.163+10540A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319362 | |||||||
chr17:5319369 | TA | T | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.163+10548delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319369 | |||||||
chr17:5319435 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.163+10613C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319435 | |||||||
chr17:5319448 | C | T | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.163+10626C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319448 | |||||||
chr17:5319558 | G | A | 1 | a0001c0001t0001g0048 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.163+10736G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319558 | |||||||
chr17:5319576 | A | G | 1 | a0001c0003t0013g0178 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.163+10754A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319576 | |||||||
chr17:5319951 | G | T | 2 | a0001c0003t0014g0008 a0001c0003t0014g0009 |
2 | NA18965.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.163+11129G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5319951 | |||||||
chr17:5320167 | CAGT | C | 3 | a0001c0002t0004g0123 a0001c0002t0004g0134 a0001c0002t0004g0135 |
3 | HG02809.hp1 HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.163+11346_163+1134 others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5320167 | |||||||
chr17:5320421 | C | CA | 64 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 others(61): Show |
65 | HG00408.hp2 HG00733.hp1 HG00741.hp2 others(62): Show |
intron_variant | MODIFIER | c.164-11505dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320421 | ||||||
chr17:5320421 | C | CAAAAAAA others(3): Show |
1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.164-11514_164-1150 others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320421 | ||||||
chr17:5320421 | CAAA | C | 6 | a0001c0004t0002g0250 a0001c0004t0002g0253 a0001c0004t0012g0163 others(3): Show |
6 | HG01928.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-11507_164-1150 others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320421 | ||||||
chr17:5320421 | CAAAA | C | 34 | a0001c0001t0001g0067 a0001c0001t0001g0165 a0001c0001t0001g0166 others(31): Show |
35 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.164-11508_164-1150 others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320421 | ||||||
chr17:5320421 | CAAAAA | C | 38 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(35): Show |
38 | HG00738.hp2 HG00741.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.164-11509_164-1150 others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320421 | ||||||
chr17:5320421 | CAAAAAA | C | 31 | a0001c0001t0001g0318 a0001c0001t0001g0335 a0001c0001t0007g0306 others(28): Show |
31 | HG00423.hp2 HG00438.hp1 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.164-11510_164-1150 others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320421 | ||||||
chr17:5320439 | A | AAAAAG | 14 | a0001c0001t0011g0159 a0001c0002t0004g0125 a0001c0002t0004g0137 others(11): Show |
14 | HG01884.hp1 HG01891.hp1 HG02027.hp1 others(11): Show |
intron_variant | MODIFIER | c.164-11506_164-1150 others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320439 | ||||||
chr17:5320439 | A | AAAAG | 45 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(42): Show |
45 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(42): Show |
intron_variant | MODIFIER | c.164-11507_164-1150 others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5320439 | ||||||
chr17:5320441 | A | G | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-11508A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5320441 | |||||||
chr17:5320920 | T | C | 1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.164-11029T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5320920 | |||||||
chr17:5321357 | C | T | 1 | a0001c0001t0001g0166 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.164-10592C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5321357 | |||||||
chr17:5321492 | C | T | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-10457C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5321492 | |||||||
chr17:5321534 | T | C | 2 | a0001c0001t0001g0293 a0001c0001t0001g0303 |
2 | HG00642.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.164-10415T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5321534 | |||||||
chr17:5321662 | A | C | 1 | a0001c0004t0002g0253 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.164-10287A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5321662 | |||||||
chr17:5321883 | A | G | 170 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(167): Show |
171 | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(168): Show |
intron_variant | MODIFIER | c.164-10066A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5321883 | |||||||
chr17:5321936 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.164-10013C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5321936 | |||||||
chr17:5322072 | T | C | 345 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(342): Show |
349 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
intron_variant | MODIFIER | c.164-9877T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322072 | |||||||
chr17:5322132 | G | A | 2 | a0001c0002t0008g0126 a0001c0002t0008g0141 |
2 | HG02027.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.164-9817G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322132 | |||||||
chr17:5322156 | C | T | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.164-9793C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322156 | |||||||
chr17:5322157 | G | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.164-9792G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322157 | |||||||
chr17:5322361 | G | C | 1 | a0001c0003t0003g0229 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.164-9588G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322361 | |||||||
chr17:5322362 | A | G | 42 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(39): Show |
42 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(39): Show |
intron_variant | MODIFIER | c.164-9587A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322362 | |||||||
chr17:5322378 | C | T | 42 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(39): Show |
42 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(39): Show |
intron_variant | MODIFIER | c.164-9571C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322378 | |||||||
chr17:5322474 | AG | A | 102 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(99): Show |
103 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.164-9474delG | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322474 | |||||||
chr17:5322499 | C | T | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.164-9450C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322499 | |||||||
chr17:5322737 | A | G | 7 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(4): Show |
7 | HG02257.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-9212A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322737 | |||||||
chr17:5322786 | T | C | 2 | a0001c0001t0011g0159 a0001c0004t0002g0158 |
2 | HG01884.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.164-9163T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5322786 | |||||||
chr17:5323173 | C | A | 1 | a0001c0001t0001g0074 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.164-8776C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323173 | |||||||
chr17:5323197 | G | A | 113 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(110): Show |
114 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.164-8752G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323197 | |||||||
chr17:5323201 | A | G | 1 | a0001c0001t0001g0089 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.164-8748A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323201 | |||||||
chr17:5323388 | A | G | 4 | a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 others(1): Show |
4 | HG02015.hp1 HG02165.hp1 NA18939.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-8561A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323388 | |||||||
chr17:5323543 | A | AT | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-8405dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323543 | ||||||
chr17:5323574 | C | A | 2 | a0001c0004t0010g0233 a0001c0004t0010g0234 |
2 | HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.164-8375C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323574 | |||||||
chr17:5323677 | G | GAT | 112 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(109): Show |
113 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.164-8259_164-8258d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323677 | ||||||
chr17:5323690 | ATCTC | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.164-8253_164-8250d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323690 | ||||||
chr17:5323692 | C | A | 1 | a0001c0004t0002g0252 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.164-8257C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323692 | |||||||
chr17:5323694 | C | CTAGGAAT others(11): Show |
4 | a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0121 others(1): Show |
4 | HG01069.hp2 HG01074.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-8254_164-8253i others(20): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323694 | ||||||
chr17:5323696 | C | A | 4 | a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0121 others(1): Show |
4 | HG01069.hp2 HG01074.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-8253C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323696 | |||||||
chr17:5323703 | A | AAT | 138 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(135): Show |
139 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(136): Show |
intron_variant | MODIFIER | c.164-8233_164-8232d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323703 | ||||||
chr17:5323705 | T | TATATATA others(11): Show |
1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.164-8195_164-8178d others(20): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323705 | ||||||
chr17:5323707 | TATATATA others(9): Show |
T | 45 | a0001c0001t0004g0299 a0001c0002t0041g0190 a0001c0003t0003g0191 others(42): Show |
45 | HG00408.hp2 HG00738.hp2 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.164-8231_164-8216d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323707 | ||||||
chr17:5323723 | A | AATATATA others(59): Show |
1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.164-8214_164-8213i others(68): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323723 | ||||||
chr17:5323723 | A | AATATATA others(99): Show |
1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.164-8214_164-8213i others(108): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323723 | ||||||
chr17:5323723 | AATATATA others(31): Show |
A | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.164-8195_164-8158d others(40): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323723 | ||||||
chr17:5323740 | G | T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.164-8209G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323740 | |||||||
chr17:5323741 | A | AAT | 82 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(79): Show |
83 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.164-8197_164-8196d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323741 | ||||||
chr17:5323741 | AATATATA others(13): Show |
A | 36 | a0001c0003t0003g0185 a0001c0003t0003g0188 a0001c0003t0003g0193 others(33): Show |
36 | HG00733.hp1 HG00741.hp2 HG01074.hp1 others(33): Show |
intron_variant | MODIFIER | c.164-8087_164-8068d others(22): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323741 | ||||||
chr17:5323741 | AATATATA others(33): Show |
A | 16 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(13): Show |
17 | HG01071.hp2 HG01123.hp1 HG01496.hp2 others(14): Show |
intron_variant | MODIFIER | c.164-8107_164-8068d others(42): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323741 | ||||||
chr17:5323743 | T | TATATATA others(67): Show |
1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.164-8178_164-8177i others(76): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323743 | ||||||
chr17:5323752 | A | ATCTAGGA others(51): Show |
2 | a0001c0001t0011g0159 a0001c0004t0002g0158 |
2 | HG01884.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.164-8178_164-8177i others(60): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323752 | ||||||
chr17:5323759 | A | AATATATA others(13): Show |
8 | a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0121 others(5): Show |
8 | HG01069.hp2 HG01074.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.164-8178_164-8177i others(22): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323759 | A | AATATATA others(35): Show |
2 | a0001c0002t0008g0140 a0001c0002t0008g0153 |
2 | HG02080.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.164-8178_164-8177i others(44): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323759 | A | AATATATA others(31): Show |
41 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(38): Show |
41 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(38): Show |
intron_variant | MODIFIER | c.164-8178_164-8177i others(40): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323759 | A | AATATATA others(67): Show |
5 | a0001c0002t0004g0101 a0001c0002t0004g0124 a0001c0002t0004g0136 others(2): Show |
5 | HG01891.hp1 HG03139.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-8178_164-8177i others(76): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323759 | A | AATATATA others(85): Show |
1 | a0001c0002t0004g0125 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.164-8178_164-8177i others(94): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323759 | AAT | A | 3 | a0001c0001t0021g0235 a0001c0001t0032g0241 a0001c0002t0004g0104 |
3 | HG02486.hp2 HG02572.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.164-8177_164-8176d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323759 | AATATATA others(15): Show |
A | 3 | a0001c0002t0041g0190 a0001c0003t0003g0191 a0001c0003t0044g0192 |
3 | HG00408.hp2 NA18945.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.164-8177_164-8156d others(24): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323759 | ||||||
chr17:5323761 | T | TATATATA others(9): Show |
2 | a0001c0002t0004g0134 a0001c0002t0006g0130 |
2 | HG03225.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.164-8178_164-8177i others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323761 | ||||||
chr17:5323772 | A | T | 57 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(54): Show |
57 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.164-8177A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323772 | |||||||
chr17:5323779 | AAT | A | 100 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(97): Show |
102 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.164-8157_164-8156d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323779 | ||||||
chr17:5323781 | T | TATATATA others(31): Show |
1 | a0001c0002t0004g0104 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-8158_164-8157i others(40): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323781 | ||||||
chr17:5323799 | A | AAT | 6 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(3): Show |
6 | HG00280.hp1 HG02280.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-8137_164-8136d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323799 | ||||||
chr17:5323799 | A | AATAT | 3 | a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0012t0002g0347 |
3 | HG00099.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.164-8139_164-8136d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323799 | ||||||
chr17:5323799 | A | AATATATA others(25): Show |
1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.164-8136_164-8135i others(34): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323799 | ||||||
chr17:5323799 | AAT | A | 6 | a0001c0001t0021g0235 a0001c0004t0010g0233 a0001c0004t0010g0234 others(3): Show |
6 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-8137_164-8136d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323799 | ||||||
chr17:5323819 | A | AATAT | 160 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(157): Show |
162 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.164-8119_164-8116d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323819 | ||||||
chr17:5323819 | A | AATATAT | 5 | a0001c0001t0004g0105 a0001c0001t0004g0299 a0001c0004t0002g0242 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-8121_164-8116d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323819 | ||||||
chr17:5323819 | A | AATATATA others(19): Show |
1 | a0001c0001t0001g0040 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.164-8116_164-8115i others(28): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323819 | ||||||
chr17:5323819 | A | AATATATA others(81): Show |
1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.164-8116_164-8115i others(90): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323819 | ||||||
chr17:5323823 | TATATATA others(9): Show |
T | 2 | a0001c0005t0005g0268 a0001c0005t0005g0272 |
2 | HG03225.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.164-8115_164-8100d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323823 | ||||||
chr17:5323824 | A | G | 4 | a0001c0001t0001g0318 a0001c0001t0007g0306 a0001c0001t0007g0329 others(1): Show |
4 | HG00438.hp1 NA19062.hp2 NA19067.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-8125A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323824 | |||||||
chr17:5323827 | TATATATC others(5): Show |
T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.164-8115_164-8104d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323827 | ||||||
chr17:5323839 | A | AATAT | 50 | a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0007g0306 others(47): Show |
50 | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(47): Show |
intron_variant | MODIFIER | c.164-8099_164-8096d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323839 | A | AATATAT | 9 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(6): Show |
9 | HG01243.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.164-8101_164-8096d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323839 | A | AATATATA others(19): Show |
2 | a0002c0006t0015g0339 a0002c0006t0015g0340 |
2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.164-8096_164-8095i others(28): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323839 | A | AATATATA others(17): Show |
28 | a0001c0001t0001g0257 a0001c0001t0001g0295 a0001c0001t0001g0302 others(25): Show |
29 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.164-8099_164-8076d others(26): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323839 | A | AATATATA others(37): Show |
4 | a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0303 others(1): Show |
4 | HG00642.hp2 HG02976.hp2 HG03669.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-8068_164-8067i others(46): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323839 | A | AATATATA others(57): Show |
1 | a0001c0001t0001g0296 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.164-8068_164-8067i others(66): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323839 | A | AATATGTA others(17): Show |
15 | a0001c0001t0007g0307 a0001c0001t0007g0309 a0001c0001t0007g0310 others(12): Show |
15 | HG00423.hp2 HG02040.hp2 HG02083.hp2 others(12): Show |
intron_variant | MODIFIER | c.164-8106_164-8105i others(26): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323839 | ||||||
chr17:5323843 | T | A | 1 | a0001c0004t0002g0253 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.164-8106T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323843 | |||||||
chr17:5323854 | C | A | 1 | a0001c0013t0003g0199 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.164-8095C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323854 | |||||||
chr17:5323854 | C | CTAGGAAT others(13): Show |
1 | a0003c0014t0014g0200 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.164-8076_164-8075i others(22): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323854 | ||||||
chr17:5323857 | G | GGAATATA others(13): Show |
1 | a0001c0004t0002g0253 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.164-8076_164-8075i others(22): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323857 | ||||||
chr17:5323859 | A | AAT | 7 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(4): Show |
7 | HG02257.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-8077_164-8076d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5323859 | ||||||
chr17:5323900 | G | A | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.164-8049G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5323900 | |||||||
chr17:5324014 | C | A | 32 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(29): Show |
33 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(30): Show |
intron_variant | MODIFIER | c.164-7935C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324014 | |||||||
chr17:5324044 | C | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.164-7905C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324044 | |||||||
chr17:5324198 | A | G | 1 | a0001c0001t0001g0296 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.164-7751A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324198 | |||||||
chr17:5324267 | C | T | 35 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(32): Show |
35 | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.164-7682C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324267 | |||||||
chr17:5324584 | A | G | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.164-7365A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324584 | |||||||
chr17:5324697 | G | A | 65 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(62): Show |
65 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.164-7252G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324697 | |||||||
chr17:5324699 | A | G | 9 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(6): Show |
9 | HG01243.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.164-7250A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324699 | |||||||
chr17:5324766 | C | T | 108 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(105): Show |
109 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.164-7183C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324766 | |||||||
chr17:5324825 | C | A | 1 | a0001c0002t0006g0143 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.164-7124C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324825 | |||||||
chr17:5324913 | T | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.164-7036T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5324913 | |||||||
chr17:5325002 | A | G | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.164-6947A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325002 | |||||||
chr17:5325141 | C | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.164-6808C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325141 | |||||||
chr17:5325169 | C | A | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.164-6780C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325169 | |||||||
chr17:5325169 | CA | C | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.164-6771delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5325169 | ||||||
chr17:5325178 | A | C | 11 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(8): Show |
11 | HG01496.hp1 HG01928.hp1 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.164-6771A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325178 | |||||||
chr17:5325197 | G | A | 31 | a0001c0001t0001g0318 a0001c0001t0001g0335 a0001c0001t0007g0306 others(28): Show |
31 | HG00423.hp2 HG00438.hp1 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.164-6752G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325197 | |||||||
chr17:5325241 | C | T | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.164-6708C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325241 | |||||||
chr17:5325434 | G | A | 90 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(87): Show |
91 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.164-6515G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325434 | |||||||
chr17:5325500 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.164-6449T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325500 | |||||||
chr17:5325533 | T | G | 119 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(116): Show |
120 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.164-6416T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325533 | |||||||
chr17:5325584 | A | G | 2 | a0001c0001t0001g0082 a0001c0001t0001g0084 |
2 | HG01952.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.164-6365A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325584 | |||||||
chr17:5325633 | C | G | 1 | a0002c0006t0015g0315 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.164-6316C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325633 | |||||||
chr17:5325658 | TAGA | T | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-6286_164-6284d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5325658 | ||||||
chr17:5325670 | A | G | 1 | a0001c0001t0001g0027 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.164-6279A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325670 | |||||||
chr17:5325731 | C | A | 183 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(180): Show |
184 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(181): Show |
intron_variant | MODIFIER | c.164-6218C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325731 | |||||||
chr17:5325749 | G | A | 2 | a0001c0001t0011g0132 a0001c0001t0011g0133 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.164-6200G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325749 | |||||||
chr17:5325766 | C | T | 89 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(86): Show |
90 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.164-6183C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5325766 | |||||||
chr17:5326099 | A | G | 26 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(23): Show |
27 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-5850A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326099 | |||||||
chr17:5326160 | C | T | 107 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(104): Show |
109 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.164-5789C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326160 | |||||||
chr17:5326648 | G | A | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.164-5301G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326648 | |||||||
chr17:5326822 | A | G | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-5127A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326822 | |||||||
chr17:5326878 | T | C | 11 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(8): Show |
11 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.164-5071T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326878 | |||||||
chr17:5326901 | G | A | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.164-5048G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326901 | |||||||
chr17:5326998 | C | T | 1 | a0001c0001t0001g0335 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.164-4951C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326998 | |||||||
chr17:5326999 | G | A | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.164-4950G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5326999 | |||||||
chr17:5327036 | T | C | 3 | a0001c0001t0001g0318 a0001c0001t0007g0329 a0001c0001t0007g0330 |
3 | HG00438.hp1 NA19067.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.164-4913T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327036 | |||||||
chr17:5327038 | A | T | 2 | a0001c0002t0008g0007 a0001c0002t0008g0160 |
2 | NA18965.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.164-4911A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327038 | |||||||
chr17:5327114 | G | A | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-4835G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327114 | |||||||
chr17:5327177 | G | A | 6 | a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0005t0005g0276 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-4772G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327177 | |||||||
chr17:5327199 | T | A | 1 | a0001c0001t0004g0105 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.164-4750T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327199 | |||||||
chr17:5327214 | G | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.164-4735G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327214 | |||||||
chr17:5327237 | A | T | 1 | a0001c0001t0004g0105 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.164-4712A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327237 | |||||||
chr17:5327347 | C | CA | 26 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0048 others(23): Show |
26 | HG01175.hp1 HG01255.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.164-4587dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5327347 | ||||||
chr17:5327347 | CA | C | 6 | a0001c0001t0001g0086 a0001c0001t0032g0241 a0001c0002t0006g0155 others(3): Show |
6 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-4587delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5327347 | ||||||
chr17:5327360 | A | C | 2 | a0001c0001t0001g0023 a0001c0002t0006g0036 |
2 | NA18991.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.164-4589A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327360 | |||||||
chr17:5327363 | C | A | 11 | a0001c0001t0001g0335 a0001c0001t0007g0309 a0001c0001t0007g0310 others(8): Show |
11 | HG02040.hp2 NA18940.hp1 NA18952.hp2 others(8): Show |
intron_variant | MODIFIER | c.164-4586C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327363 | |||||||
chr17:5327452 | T | C | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.164-4497T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327452 | |||||||
chr17:5327507 | T | C | 1 | a0001c0001t0029g0047 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.164-4442T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327507 | |||||||
chr17:5327527 | C | T | 6 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0017g0290 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-4422C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327527 | |||||||
chr17:5327540 | C | T | 2 | a0001c0004t0010g0233 a0001c0004t0010g0234 |
2 | HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.164-4409C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327540 | |||||||
chr17:5327572 | G | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-4377G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327572 | |||||||
chr17:5327664 | A | G | 1 | a0001c0001t0001g0302 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.164-4285A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327664 | |||||||
chr17:5327718 | C | T | 8 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show |
9 | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.164-4231C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327718 | |||||||
chr17:5327767 | A | C | 1 | a0001c0005t0005g0275 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.164-4182A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327767 | |||||||
chr17:5327833 | A | G | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-4116A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327833 | |||||||
chr17:5327899 | T | A | 2 | a0001c0004t0002g0005 a0001c0004t0002g0248 |
2 | NA18939.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.164-4050T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5327899 | |||||||
chr17:5328001 | T | C | 1 | a0001c0002t0008g0007 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.164-3948T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328001 | |||||||
chr17:5328117 | G | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-3832G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328117 | |||||||
chr17:5328248 | T | C | 7 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(4): Show |
7 | HG02257.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-3701T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328248 | |||||||
chr17:5328323 | A | G | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-3626A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328323 | |||||||
chr17:5328330 | A | C | 2 | a0001c0004t0002g0005 a0001c0004t0002g0248 |
2 | NA18939.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.164-3619A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328330 | |||||||
chr17:5328362 | A | G | 1 | a0001c0001t0001g0257 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.164-3587A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328362 | |||||||
chr17:5328395 | A | G | 7 | a0001c0002t0006g0006 a0001c0002t0006g0044 a0001c0002t0006g0094 others(4): Show |
7 | HG00438.hp2 NA18940.hp2 NA18942.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-3554A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328395 | |||||||
chr17:5328590 | G | C | 6 | a0001c0003t0009g0003 a0001c0003t0009g0202 a0001c0003t0009g0209 others(3): Show |
7 | HG01071.hp2 HG01123.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-3359G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328590 | |||||||
chr17:5328631 | G | A | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.164-3318G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328631 | |||||||
chr17:5328638 | G | A | 2 | a0001c0004t0002g0005 a0001c0004t0002g0248 |
2 | NA18939.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.164-3311G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328638 | |||||||
chr17:5328645 | T | TA | 43 | a0001c0001t0001g0316 a0001c0001t0001g0327 a0001c0001t0007g0313 others(40): Show |
44 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-3278dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5328645 | ||||||
chr17:5328645 | T | TAA | 7 | a0001c0002t0004g0104 a0001c0003t0003g0216 a0001c0003t0009g0202 others(4): Show |
7 | HG00280.hp1 HG02293.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.164-3279_164-3278d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5328645 | ||||||
chr17:5328645 | TA | T | 114 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(111): Show |
116 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.164-3278delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5328645 | ||||||
chr17:5328645 | TAA | T | 23 | a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0257 others(20): Show |
24 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.164-3279_164-3278d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5328645 | ||||||
chr17:5328645 | TAAAAAAA others(6): Show |
T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.164-3290_164-3278d others(15): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5328645 | ||||||
chr17:5328646 | A | T | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.164-3303A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328646 | |||||||
chr17:5328690 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.164-3259C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328690 | |||||||
chr17:5328697 | A | T | 132 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(129): Show |
135 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(132): Show |
intron_variant | MODIFIER | c.164-3252A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328697 | |||||||
chr17:5328805 | G | T | 2 | a0001c0013t0003g0199 a0003c0014t0014g0200 |
2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.164-3144G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328805 | |||||||
chr17:5328814 | A | G | 3 | a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0077 |
3 | NA18957.hp1 NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.164-3135A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328814 | |||||||
chr17:5328823 | C | T | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-3126C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328823 | |||||||
chr17:5328907 | C | T | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-3042C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5328907 | |||||||
chr17:5329019 | C | CT | 43 | a0001c0001t0001g0065 a0001c0001t0001g0165 a0001c0001t0001g0166 others(40): Show |
44 | HG00099.hp2 HG00609.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.164-2910dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329019 | ||||||
chr17:5329019 | C | CTT | 136 | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 others(133): Show |
136 | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.164-2911_164-2910d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329019 | ||||||
chr17:5329019 | C | CTTT | 31 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0015 others(28): Show |
33 | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(30): Show |
intron_variant | MODIFIER | c.164-2912_164-2910d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329019 | ||||||
chr17:5329019 | CTT | C | 59 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(56): Show |
59 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.164-2911_164-2910d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329019 | ||||||
chr17:5329019 | CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0024g0037 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.164-2919_164-2910d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329019 | ||||||
chr17:5329072 | ATTAG | A | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-2873_164-2870d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329072 | ||||||
chr17:5329144 | A | G | 1 | a0001c0005t0005g0278 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.164-2805A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329144 | |||||||
chr17:5329182 | T | C | 11 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(8): Show |
11 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.164-2767T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329182 | |||||||
chr17:5329485 | C | T | 1 | a0001c0005t0005g0289 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.164-2464C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329485 | |||||||
chr17:5329519 | G | A | 1 | a0001c0001t0001g0016 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.164-2430G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329519 | |||||||
chr17:5329741 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.164-2208T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329741 | |||||||
chr17:5329788 | A | G | 2 | a0001c0001t0032g0241 a0001c0009t0011g0346 |
2 | HG00280.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.164-2161A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329788 | |||||||
chr17:5329818 | C | CAT | 24 | a0001c0001t0032g0241 a0001c0001t0045g0179 a0001c0002t0004g0117 others(21): Show |
24 | HG00280.hp1 HG00609.hp2 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.164-2105_164-2104d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | C | CATATAT | 3 | a0001c0001t0019g0181 a0001c0001t0043g0180 a0001c0004t0012g0231 |
3 | HG01243.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.164-2109_164-2104d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | C | CATATATA others(5): Show |
1 | a0001c0003t0018g0348 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.164-2115_164-2104d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | C | CATATATA others(7): Show |
1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.164-2117_164-2104d others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | C | CATATATA others(9): Show |
2 | a0001c0001t0016g0173 a0001c0001t0016g0174 |
2 | HG02280.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.164-2119_164-2104d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | C | CATATATA others(11): Show |
1 | a0001c0001t0016g0175 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-2121_164-2104d others(20): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | CAT | C | 48 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(45): Show |
48 | HG00738.hp1 HG01069.hp2 HG01074.hp2 others(45): Show |
intron_variant | MODIFIER | c.164-2105_164-2104d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | CATAT | C | 3 | a0001c0001t0021g0235 a0001c0004t0022g0239 a0001c0012t0002g0347 |
3 | HG00099.hp2 HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.164-2107_164-2104d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329818 | CATATATA others(9): Show |
C | 205 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(202): Show |
208 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(205): Show |
intron_variant | MODIFIER | c.164-2119_164-2104d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5329818 | ||||||
chr17:5329983 | A | G | 24 | a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0006g0130 others(21): Show |
24 | HG00609.hp2 HG02027.hp1 HG02040.hp1 others(21): Show |
intron_variant | MODIFIER | c.164-1966A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5329983 | |||||||
chr17:5330027 | C | T | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-1922C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330027 | |||||||
chr17:5330141 | C | G | 2 | a0001c0001t0011g0132 a0001c0001t0011g0133 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.164-1808C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330141 | |||||||
chr17:5330522 | C | T | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.164-1427C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330522 | |||||||
chr17:5330591 | G | A | 3 | a0001c0001t0007g0309 a0001c0001t0007g0310 a0001c0001t0007g0333 |
3 | HG02040.hp2 NA18940.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.164-1358G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330591 | |||||||
chr17:5330744 | C | T | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.164-1205C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330744 | |||||||
chr17:5330774 | A | G | 9 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0242 others(6): Show |
9 | HG01243.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.164-1175A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330774 | |||||||
chr17:5330885 | G | T | 1 | a0001c0001t0001g0034 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.164-1064G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330885 | |||||||
chr17:5330898 | C | T | 1 | a0001c0003t0003g0214 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.164-1051C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330898 | |||||||
chr17:5330946 | C | G | 3 | a0001c0004t0002g0256 a0001c0004t0002g0258 a0001c0004t0002g0265 |
3 | NA18943.hp2 NA18950.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.164-1003C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330946 | |||||||
chr17:5330969 | G | T | 1 | a0001c0002t0004g0108 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.164-980G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5330969 | |||||||
chr17:5331026 | A | C | 2 | a0001c0001t0007g0306 a0001c0001t0007g0307 |
2 | HG00423.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.164-923A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331026 | |||||||
chr17:5331027 | C | CT | 11 | a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0117 others(8): Show |
11 | HG00621.hp1 HG01069.hp2 HG01074.hp2 others(8): Show |
intron_variant | MODIFIER | c.164-894dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5331027 | ||||||
chr17:5331027 | CT | C | 10 | a0001c0001t0011g0159 a0001c0002t0004g0120 a0001c0002t0006g0147 others(7): Show |
10 | HG00609.hp2 HG01167.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.164-894delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5331027 | ||||||
chr17:5331037 | T | G | 2 | a0001c0001t0007g0306 a0001c0001t0007g0307 |
2 | HG00423.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.164-912T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331037 | |||||||
chr17:5331042 | TTTTTTTT others(7): Show |
T | 1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.164-906_164-893del others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331042 | |||||||
chr17:5331043 | TTTTTTTT others(6): Show |
T | 8 | a0001c0001t0004g0299 a0001c0001t0021g0235 a0001c0004t0002g0294 others(5): Show |
8 | HG01243.hp2 HG02257.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.164-905_164-893del others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331043 | |||||||
chr17:5331053 | TTTA | T | 23 | a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0042 others(20): Show |
23 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(20): Show |
intron_variant | MODIFIER | c.164-895_164-893del others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331053 | |||||||
chr17:5331054 | TTA | T | 133 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(130): Show |
135 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.164-894_164-893del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331054 | |||||||
chr17:5331055 | TA | T | 55 | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0023 others(52): Show |
56 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.164-891delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | 5331055 | ||||||
chr17:5331056 | A | T | 8 | a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0004t0002g0249 others(5): Show |
8 | HG01175.hp1 HG02074.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.164-893A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331056 | |||||||
chr17:5331095 | G | T | 3 | a0001c0002t0004g0304 a0001c0002t0004g0308 a0001c0002t0004g0328 |
3 | NA18980.hp1 NA19079.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.164-854G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331095 | |||||||
chr17:5331100 | C | T | 89 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(86): Show |
90 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.164-849C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331100 | |||||||
chr17:5331146 | G | A | 3 | a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0327 |
3 | HG01433.hp2 HG01952.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.164-803G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331146 | |||||||
chr17:5331200 | C | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.164-749C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331200 | |||||||
chr17:5331431 | G | A | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-518G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331431 | |||||||
chr17:5331434 | G | A | 1 | a0001c0001t0001g0335 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.164-515G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331434 | |||||||
chr17:5331508 | A | G | 1 | a0001c0002t0006g0059 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.164-441A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331508 | |||||||
chr17:5331838 | G | C | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-111G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331838 | |||||||
chr17:5331902 | C | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.164-47C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | chr17 | 5331902 | |||||||
chr17:5332196 | C | T | 3 | a0001c0004t0012g0231 a0001c0004t0039g0232 a0001c0007t0011g0246 |
3 | HG01243.hp2 HG06807.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.367+44C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332196 | |||||||
chr17:5332285 | T | C | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.367+133T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332285 | |||||||
chr17:5332369 | G | T | 1 | a0001c0001t0001g0015 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.367+217G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332369 | |||||||
chr17:5332376 | T | C | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.367+224T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332376 | |||||||
chr17:5332427 | C | T | 1 | a0001c0002t0006g0146 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.367+275C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332427 | |||||||
chr17:5332516 | A | C | 170 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(167): Show |
171 | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(168): Show |
intron_variant | MODIFIER | c.367+364A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332516 | |||||||
chr17:5332595 | A | AAT | 34 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(31): Show |
34 | HG00423.hp2 HG00642.hp2 HG00741.hp1 others(31): Show |
intron_variant | MODIFIER | c.367+444_367+445dup others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5332595 | ||||||
chr17:5332596 | A | AT | 20 | a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0001g0093 others(17): Show |
20 | HG01069.hp1 HG01071.hp1 HG01975.hp1 others(17): Show |
intron_variant | MODIFIER | c.367+465dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5332596 | ||||||
chr17:5332596 | A | ATT | 101 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(98): Show |
103 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(100): Show |
intron_variant | MODIFIER | c.367+464_367+465dup others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5332596 | ||||||
chr17:5332596 | A | ATTT | 64 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0024 others(61): Show |
64 | HG00544.hp2 HG00609.hp2 HG00738.hp1 others(61): Show |
intron_variant | MODIFIER | c.367+463_367+465dup others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5332596 | ||||||
chr17:5332596 | A | ATTTT | 9 | a0001c0001t0001g0106 a0001c0002t0004g0103 a0001c0002t0004g0104 others(6): Show |
9 | HG00621.hp1 HG00673.hp1 HG01358.hp2 others(6): Show |
intron_variant | MODIFIER | c.367+462_367+465dup others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5332596 | ||||||
chr17:5332597 | T | TA | 57 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(54): Show |
58 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(55): Show |
intron_variant | MODIFIER | c.367+445_367+446ins others(1): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332597 | |||||||
chr17:5332598 | T | A | 2 | a0001c0004t0010g0238 a0001c0005t0005g0268 |
2 | HG02965.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.367+446T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332598 | |||||||
chr17:5332683 | G | A | 1 | a0001c0001t0001g0305 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.367+531G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332683 | |||||||
chr17:5332711 | C | T | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.367+559C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332711 | |||||||
chr17:5332733 | C | T | 102 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(99): Show |
103 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.367+581C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332733 | |||||||
chr17:5332805 | G | A | 1 | a0001c0002t0006g0146 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.367+653G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332805 | |||||||
chr17:5332808 | A | G | 175 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(172): Show |
176 | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(173): Show |
intron_variant | MODIFIER | c.367+656A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332808 | |||||||
chr17:5332838 | G | A | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.367+686G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5332838 | |||||||
chr17:5333381 | C | T | 3 | a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0327 |
3 | HG01433.hp2 HG01952.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.367+1229C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333381 | |||||||
chr17:5333383 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.367+1231C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333383 | |||||||
chr17:5333408 | C | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | HG00423.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.367+1256C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333408 | |||||||
chr17:5333606 | A | T | 1 | a0001c0001t0001g0024 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.367+1454A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333606 | |||||||
chr17:5333717 | T | C | 285 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(282): Show |
288 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(285): Show |
intron_variant | MODIFIER | c.368-1467T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333717 | |||||||
chr17:5333811 | G | A | 35 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(32): Show |
35 | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.368-1373G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333811 | |||||||
chr17:5333837 | G | C | 1 | a0001c0002t0006g0094 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.368-1347G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5333837 | |||||||
chr17:5334041 | T | C | 187 | a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0111 others(184): Show |
188 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(185): Show |
intron_variant | MODIFIER | c.368-1143T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334041 | |||||||
chr17:5334049 | G | A | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.368-1135G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334049 | |||||||
chr17:5334050 | G | GT | 17 | a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0165 others(14): Show |
17 | HG01109.hp1 HG01175.hp1 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.368-1117dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5334050 | ||||||
chr17:5334050 | G | T | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.368-1134G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334050 | |||||||
chr17:5334050 | GT | G | 75 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(72): Show |
75 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(72): Show |
intron_variant | MODIFIER | c.368-1117delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr17 | 5334050 | ||||||
chr17:5334063 | T | C | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.368-1121T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334063 | |||||||
chr17:5334481 | C | G | 1 | a0001c0002t0001g0331 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.368-703C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334481 | |||||||
chr17:5334512 | A | G | 292 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(289): Show |
295 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
intron_variant | MODIFIER | c.368-672A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334512 | |||||||
chr17:5334527 | C | T | 2 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.368-657C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334527 | |||||||
chr17:5334532 | A | G | 115 | a0001c0001t0001g0064 a0001c0001t0001g0157 a0001c0001t0001g0165 others(112): Show |
116 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(113): Show |
intron_variant | MODIFIER | c.368-652A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334532 | |||||||
chr17:5334540 | A | G | 1 | a0001c0001t0001g0032 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.368-644A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334540 | |||||||
chr17:5334582 | T | C | 35 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(32): Show |
35 | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.368-602T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334582 | |||||||
chr17:5334664 | G | A | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.368-520G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334664 | |||||||
chr17:5334697 | G | C | 185 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(182): Show |
186 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(183): Show |
intron_variant | MODIFIER | c.368-487G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334697 | |||||||
chr17:5334737 | A | G | 1 | a0001c0004t0002g0255 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.368-447A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334737 | |||||||
chr17:5334778 | T | C | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.368-406T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334778 | |||||||
chr17:5334851 | A | C | 2 | a0001c0005t0005g0337 a0001c0005t0005g0338 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.368-333A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334851 | |||||||
chr17:5334915 | A | G | 7 | a0001c0005t0005g0272 a0001c0005t0005g0279 a0001c0005t0005g0282 others(4): Show |
7 | HG02109.hp1 HG02647.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.368-269A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 3/17 | chr17 | 5334915 | |||||||
chr17:5335779 | T | C | 8 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show |
9 | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.528+435T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5335779 | |||||||
chr17:5336001 | A | G | 98 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show |
100 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.528+657A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336001 | |||||||
chr17:5336089 | T | G | 1 | a0001c0003t0009g0220 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.528+745T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336089 | |||||||
chr17:5336280 | T | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.528+936T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336280 | |||||||
chr17:5336383 | G | A | 2 | a0001c0003t0003g0187 a0001c0003t0003g0226 |
2 | HG01167.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.528+1039G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336383 | |||||||
chr17:5336418 | T | C | 1 | a0001c0001t0001g0086 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.528+1074T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336418 | |||||||
chr17:5336685 | T | C | 1 | a0001c0002t0006g0130 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.529-1334T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336685 | |||||||
chr17:5336997 | T | G | 1 | a0001c0001t0001g0024 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.529-1022T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5336997 | |||||||
chr17:5337108 | A | T | 1 | a0001c0003t0003g0191 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.529-911A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337108 | |||||||
chr17:5337110 | G | A | 1 | a0001c0003t0003g0191 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.529-909G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337110 | |||||||
chr17:5337185 | T | C | 29 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(26): Show |
30 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.529-834T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337185 | |||||||
chr17:5337204 | A | C | 89 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(86): Show |
90 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.529-815A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337204 | |||||||
chr17:5337371 | C | T | 108 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(105): Show |
109 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.529-648C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337371 | |||||||
chr17:5337423 | C | T | 1 | a0001c0003t0013g0186 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.529-596C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337423 | |||||||
chr17:5337424 | G | A | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.529-595G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337424 | |||||||
chr17:5337451 | C | T | 1 | a0001c0002t0004g0136 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.529-568C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337451 | |||||||
chr17:5337456 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.529-563C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337456 | |||||||
chr17:5337533 | TA | T | 29 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(26): Show |
30 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.529-476delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr17 | 5337533 | ||||||
chr17:5337594 | G | C | 1 | a0001c0003t0003g0212 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.529-425G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337594 | |||||||
chr17:5337649 | T | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.529-370T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337649 | |||||||
chr17:5337659 | C | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.529-360C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337659 | |||||||
chr17:5337680 | G | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.529-339G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337680 | |||||||
chr17:5337690 | C | G | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.529-329C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337690 | |||||||
chr17:5337701 | A | G | 16 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(13): Show |
16 | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.529-318A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337701 | |||||||
chr17:5337773 | T | A | 7 | a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0089 others(4): Show |
7 | HG00733.hp2 HG01934.hp2 HG01975.hp1 others(4): Show |
intron_variant | MODIFIER | c.529-246T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5337773 | |||||||
chr17:5338015 | A | G | 1 | a0001c0003t0003g0218 | 1 | HG04204.hp1 | splice_region_variant&intron_variant | LOW | c.529-4A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 4/17 | chr17 | 5338015 | |||||||
chr17:5338187 | A | G | 1 | a0001c0004t0002g0264 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.648+49A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338187 | |||||||
chr17:5338198 | C | G | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.648+60C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338198 | |||||||
chr17:5338203 | T | C | 2 | a0001c0004t0002g0244 a0001c0004t0002g0245 |
2 | HG03654.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.648+65T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338203 | |||||||
chr17:5338362 | GACC | G | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.648+226_648+228del others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5338362 | ||||||
chr17:5338460 | C | T | 7 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 others(4): Show |
7 | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.648+322C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338460 | |||||||
chr17:5338482 | C | T | 1 | a0001c0001t0001g0046 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.648+344C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338482 | |||||||
chr17:5338500 | G | A | 2 | a0001c0001t0001g0064 a0001c0001t0001g0157 |
2 | NA18990.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.648+362G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338500 | |||||||
chr17:5338555 | C | T | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.648+417C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338555 | |||||||
chr17:5338829 | A | T | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.648+691A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338829 | |||||||
chr17:5338832 | T | A | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.648+694T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5338832 | |||||||
chr17:5339004 | T | C | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.648+866T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339004 | |||||||
chr17:5339317 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.648+1179A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339317 | |||||||
chr17:5339367 | G | T | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.648+1229G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339367 | |||||||
chr17:5339419 | G | A | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.648+1281G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339419 | |||||||
chr17:5339485 | C | G | 286 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(283): Show |
289 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(286): Show |
intron_variant | MODIFIER | c.648+1347C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339485 | |||||||
chr17:5339506 | C | T | 1 | a0001c0001t0001g0063 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.648+1368C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339506 | |||||||
chr17:5339596 | G | A | 1 | a0001c0004t0039g0232 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.648+1458G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339596 | |||||||
chr17:5339674 | CT | C | 292 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(289): Show |
295 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
intron_variant | MODIFIER | c.648+1538delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5339674 | ||||||
chr17:5339860 | C | T | 1 | a0001c0002t0004g0104 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.648+1722C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339860 | |||||||
chr17:5339895 | T | C | 1 | a0001c0005t0005g0268 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.648+1757T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339895 | |||||||
chr17:5339906 | G | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.648+1768G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339906 | |||||||
chr17:5339974 | A | T | 1 | a0001c0003t0003g0215 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.648+1836A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5339974 | |||||||
chr17:5340144 | A | C | 34 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(31): Show |
35 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.648+2006A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340144 | |||||||
chr17:5340167 | A | G | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.648+2029A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340167 | |||||||
chr17:5340178 | G | C | 3 | a0001c0001t0001g0106 a0001c0003t0003g0201 a0001c0003t0003g0204 |
3 | HG01261.hp1 HG01358.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.648+2040G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340178 | |||||||
chr17:5340370 | A | G | 1 | a0001c0001t0001g0025 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.648+2232A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340370 | |||||||
chr17:5340450 | C | T | 1 | a0001c0002t0031g0131 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.648+2312C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340450 | |||||||
chr17:5340511 | A | G | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.648+2373A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340511 | |||||||
chr17:5340533 | A | G | 113 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(110): Show |
114 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.648+2395A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340533 | |||||||
chr17:5340639 | T | TA | 14 | a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0007g0317 others(11): Show |
14 | HG00280.hp1 HG01123.hp2 HG01358.hp1 others(11): Show |
intron_variant | MODIFIER | c.648+2516dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5340639 | ||||||
chr17:5340639 | T | TAA | 205 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(202): Show |
208 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
intron_variant | MODIFIER | c.648+2515_648+2516d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5340639 | ||||||
chr17:5340719 | G | A | 1 | a0001c0001t0027g0083 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.648+2581G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340719 | |||||||
chr17:5340726 | C | T | 1 | a0001c0003t0013g0186 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.648+2588C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340726 | |||||||
chr17:5340745 | G | A | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.648+2607G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340745 | |||||||
chr17:5340821 | G | T | 1 | a0001c0005t0005g0344 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.648+2683G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340821 | |||||||
chr17:5340943 | C | T | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.648+2805C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340943 | |||||||
chr17:5340948 | C | CA | 100 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(97): Show |
101 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.648+2824dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5340948 | ||||||
chr17:5340948 | C | CAA | 169 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(166): Show |
171 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(168): Show |
intron_variant | MODIFIER | c.648+2823_648+2824d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5340948 | ||||||
chr17:5340948 | C | CAAA | 7 | a0001c0001t0032g0241 a0001c0002t0008g0126 a0001c0002t0025g0240 others(4): Show |
7 | HG00099.hp2 HG00280.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.648+2822_648+2824d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5340948 | ||||||
chr17:5340988 | A | C | 2 | a0001c0001t0001g0029 a0001c0001t0001g0066 |
2 | NA18970.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.648+2850A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5340988 | |||||||
chr17:5341293 | A | G | 4 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(1): Show |
4 | HG00741.hp1 HG01433.hp2 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.648+3155A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341293 | |||||||
chr17:5341370 | T | G | 1 | a0001c0003t0003g0187 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.648+3232T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341370 | |||||||
chr17:5341437 | G | A | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.648+3299G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341437 | |||||||
chr17:5341451 | A | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.648+3313A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341451 | |||||||
chr17:5341558 | G | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.648+3420G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341558 | |||||||
chr17:5341597 | C | A | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.648+3459C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341597 | |||||||
chr17:5341599 | G | C | 185 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(182): Show |
186 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(183): Show |
intron_variant | MODIFIER | c.648+3461G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341599 | |||||||
chr17:5341641 | A | C | 1 | a0001c0005t0005g0273 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.648+3503A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341641 | |||||||
chr17:5341654 | G | C | 3 | a0002c0006t0015g0315 a0002c0006t0015g0339 a0002c0006t0015g0340 |
3 | HG01069.hp1 HG01071.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.648+3516G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341654 | |||||||
chr17:5341712 | G | A | 1 | a0001c0003t0003g0219 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.648+3574G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341712 | |||||||
chr17:5341776 | G | A | 66 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(63): Show |
66 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.648+3638G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341776 | |||||||
chr17:5341865 | T | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.648+3727T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341865 | |||||||
chr17:5341922 | A | G | 1 | a0001c0001t0001g0295 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.648+3784A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5341922 | |||||||
chr17:5342039 | A | G | 1 | a0001c0004t0002g0247 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.648+3901A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342039 | |||||||
chr17:5342142 | T | A | 63 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.648+4004T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342142 | |||||||
chr17:5342206 | A | G | 1 | a0001c0002t0006g0130 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.648+4068A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342206 | |||||||
chr17:5342218 | A | G | 2 | a0001c0002t0004g0134 a0001c0002t0004g0135 |
2 | HG02809.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.648+4080A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342218 | |||||||
chr17:5342293 | A | T | 2 | a0001c0004t0012g0163 a0001c0004t0012g0164 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.648+4155A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342293 | |||||||
chr17:5342507 | G | A | 1 | a0001c0004t0012g0231 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.649-4283G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342507 | |||||||
chr17:5342744 | A | T | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.649-4046A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342744 | |||||||
chr17:5342855 | A | G | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.649-3935A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342855 | |||||||
chr17:5342897 | A | G | 1 | a0001c0002t0004g0134 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.649-3893A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5342897 | |||||||
chr17:5343145 | G | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.649-3645G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343145 | |||||||
chr17:5343146 | G | C | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.649-3644G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343146 | |||||||
chr17:5343232 | A | G | 1 | a0001c0002t0006g0094 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.649-3558A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343232 | |||||||
chr17:5343263 | T | C | 47 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(44): Show |
47 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(44): Show |
intron_variant | MODIFIER | c.649-3527T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343263 | |||||||
chr17:5343276 | A | T | 1 | a0001c0001t0021g0235 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.649-3514A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343276 | |||||||
chr17:5343374 | T | G | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.649-3416T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343374 | |||||||
chr17:5343451 | C | T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.649-3339C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343451 | |||||||
chr17:5343600 | G | A | 1 | a0001c0002t0004g0120 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.649-3190G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343600 | |||||||
chr17:5343662 | T | C | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.649-3128T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343662 | |||||||
chr17:5343670 | C | CT | 18 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(15): Show |
18 | HG02257.hp2 HG02280.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.649-3097dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5343670 | ||||||
chr17:5343670 | C | CTT | 47 | a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0001t0001g0293 others(44): Show |
49 | HG00609.hp1 HG00621.hp2 HG00642.hp2 others(46): Show |
intron_variant | MODIFIER | c.649-3098_649-3097d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5343670 | ||||||
chr17:5343670 | C | CTTT | 39 | a0001c0001t0001g0166 a0001c0001t0001g0302 a0001c0001t0001g0305 others(36): Show |
39 | HG00423.hp2 HG00438.hp1 HG00642.hp1 others(36): Show |
intron_variant | MODIFIER | c.649-3099_649-3097d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5343670 | ||||||
chr17:5343670 | CT | C | 59 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0093 others(56): Show |
59 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.649-3097delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5343670 | ||||||
chr17:5343670 | CTTTTTTT | C | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.649-3103_649-3097d others(9): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5343670 | ||||||
chr17:5343710 | G | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.649-3080G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343710 | |||||||
chr17:5343836 | T | G | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.649-2954T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343836 | |||||||
chr17:5343942 | C | G | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.649-2848C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343942 | |||||||
chr17:5343992 | A | C | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.649-2798A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5343992 | |||||||
chr17:5344161 | A | G | 2 | a0001c0002t0004g0150 a0001c0002t0026g0139 |
2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.649-2629A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344161 | |||||||
chr17:5344242 | A | C | 176 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(173): Show |
177 | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(174): Show |
intron_variant | MODIFIER | c.649-2548A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344242 | |||||||
chr17:5344295 | G | A | 47 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(44): Show |
47 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(44): Show |
intron_variant | MODIFIER | c.649-2495G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344295 | |||||||
chr17:5344310 | C | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | HG00423.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.649-2480C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344310 | |||||||
chr17:5344319 | TC | T | 75 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(72): Show |
75 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(72): Show |
intron_variant | MODIFIER | c.649-2468delC | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5344319 | ||||||
chr17:5344437 | C | A | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.649-2353C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344437 | |||||||
chr17:5344498 | C | T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.649-2292C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344498 | |||||||
chr17:5344697 | G | A | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.649-2093G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344697 | |||||||
chr17:5344698 | G | C | 1 | a0001c0001t0001g0305 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.649-2092G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344698 | |||||||
chr17:5344700 | A | T | 1 | a0001c0001t0001g0305 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.649-2090A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344700 | |||||||
chr17:5344740 | C | G | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.649-2050C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5344740 | |||||||
chr17:5344771 | C | CA | 71 | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0081 others(68): Show |
72 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(69): Show |
intron_variant | MODIFIER | c.649-1995dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5344771 | ||||||
chr17:5344771 | C | CAA | 156 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(153): Show |
158 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(155): Show |
intron_variant | MODIFIER | c.649-1996_649-1995d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5344771 | ||||||
chr17:5344771 | C | CAAA | 13 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG00438.hp1 HG01261.hp2 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.649-1997_649-1995d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5344771 | ||||||
chr17:5344771 | CA | C | 10 | a0001c0001t0011g0133 a0001c0002t0004g0121 a0001c0002t0006g0155 others(7): Show |
10 | HG01069.hp2 HG01169.hp1 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.649-1995delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5344771 | ||||||
chr17:5344974 | T | TA | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.649-1807dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5344974 | ||||||
chr17:5345006 | T | A | 292 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(289): Show |
295 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
intron_variant | MODIFIER | c.649-1784T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345006 | |||||||
chr17:5345059 | C | T | 5 | a0001c0003t0003g0194 a0001c0003t0003g0212 a0001c0003t0003g0215 others(2): Show |
5 | HG02109.hp2 HG02523.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.649-1731C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345059 | |||||||
chr17:5345159 | C | T | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.649-1631C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345159 | |||||||
chr17:5345187 | TC | T | 35 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(32): Show |
35 | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.649-1601delC | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5345187 | ||||||
chr17:5345210 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.649-1580A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345210 | |||||||
chr17:5345297 | CATTTTTC others(5): Show |
C | 107 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(104): Show |
108 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.649-1491_649-1480d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5345297 | ||||||
chr17:5345387 | G | T | 58 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(55): Show |
58 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(55): Show |
intron_variant | MODIFIER | c.649-1403G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345387 | |||||||
chr17:5345404 | G | A | 1 | a0001c0001t0007g0334 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.649-1386G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345404 | |||||||
chr17:5345797 | T | C | 1 | a0001c0004t0002g0264 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.649-993T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345797 | |||||||
chr17:5345931 | G | A | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.649-859G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5345931 | |||||||
chr17:5345961 | AT | A | 42 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(39): Show |
42 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(39): Show |
intron_variant | MODIFIER | c.649-821delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | 5345961 | ||||||
chr17:5346303 | G | A | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.649-487G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5346303 | |||||||
chr17:5346399 | T | A | 1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.649-391T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5346399 | |||||||
chr17:5346430 | C | G | 1 | a0001c0002t0006g0128 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.649-360C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5346430 | |||||||
chr17:5346703 | G | A | 183 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(180): Show |
184 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.649-87G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 5/17 | chr17 | 5346703 | |||||||
chr17:5347231 | G | A | 4 | a0001c0005t0005g0341 a0001c0005t0005g0342 a0001c0005t0005g0343 others(1): Show |
4 | HG02647.hp2 HG02818.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.784+306G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5347231 | |||||||
chr17:5347266 | C | T | 1 | a0001c0002t0004g0124 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.784+341C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5347266 | |||||||
chr17:5347350 | C | T | 5 | a0001c0001t0004g0299 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.784+425C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5347350 | |||||||
chr17:5347388 | C | T | 1 | a0001c0003t0003g0208 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.784+463C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5347388 | |||||||
chr17:5347410 | AAAAC | A | 112 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(109): Show |
114 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(111): Show |
intron_variant | MODIFIER | c.784+525_784+528del others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr17 | 5347410 | ||||||
chr17:5347410 | AAAACAAA others(1): Show |
A | 70 | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(67): Show |
71 | HG00099.hp2 HG00280.hp1 HG00673.hp2 others(68): Show |
intron_variant | MODIFIER | c.784+521_784+528del others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr17 | 5347410 | ||||||
chr17:5347410 | AAAACAAA others(5): Show |
A | 127 | a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0106 others(124): Show |
128 | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(125): Show |
intron_variant | MODIFIER | c.784+517_784+528del others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr17 | 5347410 | ||||||
chr17:5347410 | AAAACAAA others(9): Show |
A | 2 | a0001c0002t0008g0144 a0001c0002t0008g0145 |
2 | NA18612.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.784+513_784+528del others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr17 | 5347410 | ||||||
chr17:5347516 | C | G | 1 | a0001c0001t0007g0307 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.784+591C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5347516 | |||||||
chr17:5348096 | G | A | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.784+1171G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348096 | |||||||
chr17:5348276 | G | C | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.784+1351G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348276 | |||||||
chr17:5348375 | C | T | 1 | a0003c0014t0014g0200 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.784+1450C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348375 | |||||||
chr17:5348376 | A | G | 63 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.784+1451A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348376 | |||||||
chr17:5348457 | T | C | 2 | a0001c0005t0005g0279 a0001c0005t0005g0282 |
2 | HG02109.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.784+1532T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348457 | |||||||
chr17:5348661 | C | T | 1 | a0001c0005t0005g0275 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.784+1736C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348661 | |||||||
chr17:5348797 | G | T | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.785-1654G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348797 | |||||||
chr17:5348827 | G | C | 3 | a0001c0002t0025g0240 a0001c0009t0011g0346 a0001c0012t0002g0347 |
3 | HG00099.hp2 HG00280.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.785-1624G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5348827 | |||||||
chr17:5349176 | A | C | 1 | a0001c0003t0003g0193 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.785-1275A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349176 | |||||||
chr17:5349188 | G | A | 2 | a0001c0002t0008g0126 a0001c0002t0008g0141 |
2 | HG02027.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.785-1263G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349188 | |||||||
chr17:5349195 | T | C | 1 | a0001c0003t0003g0229 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.785-1256T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349195 | |||||||
chr17:5349219 | A | G | 63 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.785-1232A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349219 | |||||||
chr17:5349367 | C | T | 2 | a0001c0004t0012g0163 a0001c0004t0012g0164 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.785-1084C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349367 | |||||||
chr17:5349516 | C | G | 63 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.785-935C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349516 | |||||||
chr17:5349580 | C | T | 1 | a0001c0001t0001g0114 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.785-871C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349580 | |||||||
chr17:5349707 | A | T | 1 | a0001c0001t0001g0089 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.785-744A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349707 | |||||||
chr17:5349757 | A | G | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.785-694A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349757 | |||||||
chr17:5349834 | T | C | 2 | a0001c0003t0010g0001 a0001c0003t0010g0013 |
3 | HG01891.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.785-617T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349834 | |||||||
chr17:5349934 | C | T | 1 | a0002c0006t0015g0315 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.785-517C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349934 | |||||||
chr17:5349995 | G | T | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.785-456G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5349995 | |||||||
chr17:5350008 | C | T | 1 | a0001c0001t0034g0045 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.785-443C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5350008 | |||||||
chr17:5350047 | C | T | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.785-404C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5350047 | |||||||
chr17:5350249 | A | G | 2 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | HG02451.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.785-202A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5350249 | |||||||
chr17:5350253 | G | A | 1 | a0001c0002t0004g0104 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.785-198G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5350253 | |||||||
chr17:5350270 | C | T | 3 | a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0077 |
3 | NA18957.hp1 NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.785-181C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5350270 | |||||||
chr17:5350273 | C | T | 5 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(2): Show |
5 | HG00099.hp2 HG02886.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.785-178C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | chr17 | 5350273 | |||||||
chr17:5350688 | A | G | 1 | a0001c0001t0001g0293 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.963+59A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5350688 | |||||||
chr17:5350769 | T | C | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.963+140T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5350769 | |||||||
chr17:5350822 | C | G | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.963+193C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5350822 | |||||||
chr17:5351138 | GAC | G | 62 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(59): Show |
62 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.963+512_963+513del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr17 | 5351138 | ||||||
chr17:5351215 | G | C | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.963+586G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5351215 | |||||||
chr17:5351335 | A | G | 1 | a0001c0001t0001g0302 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.963+706A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5351335 | |||||||
chr17:5351438 | T | C | 1 | a0001c0003t0044g0192 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.963+809T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5351438 | |||||||
chr17:5351496 | C | T | 4 | a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0043g0180 others(1): Show |
4 | HG02615.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.963+867C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5351496 | |||||||
chr17:5352159 | G | A | 6 | a0001c0003t0009g0003 a0001c0003t0009g0202 a0001c0003t0009g0209 others(3): Show |
7 | HG01071.hp2 HG01123.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.963+1530G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352159 | |||||||
chr17:5352203 | T | C | 1 | a0001c0004t0012g0231 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.963+1574T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352203 | |||||||
chr17:5352278 | C | T | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.963+1649C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352278 | |||||||
chr17:5352385 | G | T | 8 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show |
9 | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.963+1756G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352385 | |||||||
chr17:5352555 | G | T | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.964-1804G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352555 | |||||||
chr17:5352558 | C | T | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.964-1801C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352558 | |||||||
chr17:5352651 | C | T | 1 | a0001c0001t0001g0114 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.964-1708C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352651 | |||||||
chr17:5352835 | A | G | 5 | a0001c0002t0006g0044 a0001c0002t0006g0095 a0001c0002t0006g0096 others(2): Show |
5 | NA18940.hp2 NA18942.hp2 NA18950.hp1 others(2): Show |
intron_variant | MODIFIER | c.964-1524A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352835 | |||||||
chr17:5352986 | A | G | 181 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(178): Show |
182 | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(179): Show |
intron_variant | MODIFIER | c.964-1373A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352986 | |||||||
chr17:5352987 | G | C | 33 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(30): Show |
33 | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(30): Show |
intron_variant | MODIFIER | c.964-1372G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5352987 | |||||||
chr17:5353006 | G | A | 1 | a0002c0008t0001g0292 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.964-1353G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5353006 | |||||||
chr17:5353159 | A | C | 34 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(31): Show |
35 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.964-1200A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5353159 | |||||||
chr17:5353587 | C | T | 1 | a0001c0001t0001g0065 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.964-772C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5353587 | |||||||
chr17:5353617 | G | A | 8 | a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0052 others(5): Show |
8 | HG02015.hp1 HG02080.hp1 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.964-742G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5353617 | |||||||
chr17:5353684 | C | CA | 11 | a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0050 others(8): Show |
11 | HG01069.hp1 HG01123.hp2 HG01358.hp1 others(8): Show |
intron_variant | MODIFIER | c.964-668dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr17 | 5353684 | ||||||
chr17:5353722 | G | A | 1 | a0001c0002t0006g0127 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.964-637G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5353722 | |||||||
chr17:5354205 | G | A | 27 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(24): Show |
28 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.964-154G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5354205 | |||||||
chr17:5354236 | G | A | 3 | a0001c0001t0021g0235 a0001c0004t0002g0158 a0001c0004t0022g0239 |
3 | HG02486.hp2 HG02622.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.964-123G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 7/17 | chr17 | 5354236 | |||||||
chr17:5354497 | T | G | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.1095+7T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5354497 | |||||||
chr17:5354498 | G | A | 2 | a0001c0001t0001g0079 a0001c0001t0001g0086 |
2 | NA18939.hp2 NA18964.hp1 |
splice_region_variant&intron_variant | LOW | c.1095+8G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5354498 | |||||||
chr17:5354707 | A | G | 1 | a0001c0004t0002g0301 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1095+217A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5354707 | |||||||
chr17:5355012 | G | T | 1 | a0001c0001t0001g0067 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1095+522G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355012 | |||||||
chr17:5355087 | T | C | 1 | a0001c0009t0011g0346 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1095+597T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355087 | |||||||
chr17:5355156 | A | G | 13 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0243 others(10): Show |
14 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(11): Show |
intron_variant | MODIFIER | c.1095+666A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355156 | |||||||
chr17:5355270 | C | G | 8 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(5): Show |
8 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1095+780C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355270 | |||||||
chr17:5355449 | T | C | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1095+959T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355449 | |||||||
chr17:5355451 | C | T | 1 | a0001c0001t0007g0311 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1095+961C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355451 | |||||||
chr17:5355658 | G | C | 1 | a0004c0010t0004g0107 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.1095+1168G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355658 | |||||||
chr17:5355938 | C | T | 1 | a0001c0002t0006g0036 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1095+1448C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355938 | |||||||
chr17:5355939 | A | G | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1095+1449A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5355939 | |||||||
chr17:5356061 | G | A | 1 | a0001c0002t0004g0125 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1095+1571G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356061 | |||||||
chr17:5356198 | A | G | 1 | a0001c0004t0002g0255 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1095+1708A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356198 | |||||||
chr17:5356266 | G | T | 26 | a0001c0002t0004g0150 a0001c0002t0006g0127 a0001c0002t0006g0128 others(23): Show |
26 | HG00609.hp2 HG02027.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.1095+1776G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356266 | |||||||
chr17:5356350 | T | C | 6 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(3): Show |
6 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1095+1860T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356350 | |||||||
chr17:5356361 | C | A | 293 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(290): Show |
296 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(293): Show |
intron_variant | MODIFIER | c.1095+1871C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356361 | |||||||
chr17:5356444 | C | T | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.1095+1954C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356444 | |||||||
chr17:5356470 | C | G | 59 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(56): Show |
59 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.1095+1980C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356470 | |||||||
chr17:5356479 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1095+1989G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356479 | |||||||
chr17:5356643 | A | G | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1095+2153A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356643 | |||||||
chr17:5356649 | C | CT | 114 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(111): Show |
116 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.1095+2175dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | 5356649 | ||||||
chr17:5356649 | CT | C | 6 | a0001c0002t0006g0130 a0001c0004t0010g0233 a0001c0004t0010g0234 others(3): Show |
6 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.1095+2175delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | 5356649 | ||||||
chr17:5356687 | C | CTCACCCA others(220): Show |
7 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
7 | HG00642.hp2 HG01123.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.1095+2221_1095+244 others(231): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | 5356687 | ||||||
chr17:5356743 | C | T | 3 | a0001c0003t0003g0187 a0001c0003t0003g0226 a0001c0003t0013g0178 |
3 | HG01081.hp1 HG01167.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.1095+2253C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356743 | |||||||
chr17:5356902 | C | T | 103 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(100): Show |
105 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(102): Show |
intron_variant | MODIFIER | c.1095+2412C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356902 | |||||||
chr17:5356933 | A | G | 1 | a0001c0004t0012g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1095+2443A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356933 | |||||||
chr17:5356938 | C | T | 1 | a0001c0004t0012g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1095+2448C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356938 | |||||||
chr17:5356939 | G | A | 1 | a0001c0004t0012g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1095+2449G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5356939 | |||||||
chr17:5357040 | G | C | 1 | a0001c0003t0003g0210 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1095+2550G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357040 | |||||||
chr17:5357062 | G | A | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1095+2572G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357062 | |||||||
chr17:5357109 | C | G | 1 | a0001c0003t0018g0176 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1095+2619C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357109 | |||||||
chr17:5357355 | T | G | 1 | a0001c0001t0001g0080 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1095+2865T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357355 | |||||||
chr17:5357487 | T | G | 1 | a0001c0003t0003g0205 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1095+2997T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357487 | |||||||
chr17:5357560 | A | C | 6 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0048 others(3): Show |
6 | HG02027.hp2 HG02074.hp1 HG02083.hp1 others(3): Show |
intron_variant | MODIFIER | c.1095+3070A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357560 | |||||||
chr17:5357596 | C | G | 4 | a0001c0001t0004g0299 a0001c0004t0002g0294 a0001c0004t0002g0300 others(1): Show |
4 | HG02257.hp1 HG02922.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095+3106C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357596 | |||||||
chr17:5357822 | A | T | 102 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(99): Show |
104 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(101): Show |
intron_variant | MODIFIER | c.1095+3332A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357822 | |||||||
chr17:5357841 | G | A | 90 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(87): Show |
91 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.1095+3351G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357841 | |||||||
chr17:5357916 | G | C | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1096-3292G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357916 | |||||||
chr17:5357925 | G | A | 178 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(175): Show |
179 | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(176): Show |
intron_variant | MODIFIER | c.1096-3283G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5357925 | |||||||
chr17:5358226 | C | T | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.1096-2982C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358226 | |||||||
chr17:5358270 | C | T | 2 | a0001c0002t0041g0190 a0001c0003t0003g0191 |
2 | HG00408.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.1096-2938C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358270 | |||||||
chr17:5358271 | G | GTTA | 293 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(290): Show |
296 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(293): Show |
intron_variant | MODIFIER | c.1096-2935_1096-293 others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | 5358271 | ||||||
chr17:5358418 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1096-2790C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358418 | |||||||
chr17:5358427 | T | TGTGATTG others(2): Show |
5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1096-2781_1096-278 others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358427 | |||||||
chr17:5358448 | A | G | 59 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(56): Show |
59 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.1096-2760A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358448 | |||||||
chr17:5358526 | C | T | 50 | a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0159 others(47): Show |
50 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(47): Show |
intron_variant | MODIFIER | c.1096-2682C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358526 | |||||||
chr17:5358589 | C | T | 14 | a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0316 others(11): Show |
14 | HG00741.hp1 HG01069.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1096-2619C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358589 | |||||||
chr17:5358627 | C | T | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1096-2581C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358627 | |||||||
chr17:5358672 | G | GAA | 105 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(102): Show |
107 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(104): Show |
intron_variant | MODIFIER | c.1096-2524_1096-252 others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | 5358672 | ||||||
chr17:5358958 | C | T | 80 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(77): Show |
81 | HG00544.hp2 HG00609.hp1 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.1096-2250C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5358958 | |||||||
chr17:5359078 | C | CT | 119 | a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0165 others(116): Show |
120 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.1096-2117dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | 5359078 | ||||||
chr17:5359097 | G | A | 1 | a0001c0003t0003g0191 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1096-2111G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359097 | |||||||
chr17:5359112 | T | C | 2 | a0001c0001t0042g0345 a0001c0002t0004g0328 |
2 | HG02717.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.1096-2096T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359112 | |||||||
chr17:5359159 | C | T | 1 | a0001c0001t0001g0058 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1096-2049C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359159 | |||||||
chr17:5359219 | A | G | 1 | a0001c0001t0034g0045 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1096-1989A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359219 | |||||||
chr17:5359222 | T | C | 1 | a0001c0001t0034g0045 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1096-1986T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359222 | |||||||
chr17:5359234 | T | C | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.1096-1974T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359234 | |||||||
chr17:5359235 | G | C | 1 | a0001c0001t0034g0045 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1096-1973G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359235 | |||||||
chr17:5359349 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1096-1859C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359349 | |||||||
chr17:5359454 | A | G | 285 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(282): Show |
288 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(285): Show |
intron_variant | MODIFIER | c.1096-1754A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359454 | |||||||
chr17:5359573 | G | A | 1 | a0001c0002t0006g0143 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1096-1635G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359573 | |||||||
chr17:5359876 | A | G | 1 | a0001c0005t0005g0277 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1096-1332A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359876 | |||||||
chr17:5359952 | G | A | 58 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(55): Show |
58 | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.1096-1256G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5359952 | |||||||
chr17:5360029 | A | G | 1 | a0001c0003t0013g0178 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1096-1179A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360029 | |||||||
chr17:5360187 | A | G | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1096-1021A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360187 | |||||||
chr17:5360188 | A | G | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1096-1020A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360188 | |||||||
chr17:5360221 | C | T | 1 | a0001c0002t0004g0137 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1096-987C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360221 | |||||||
chr17:5360224 | A | G | 2 | a0001c0001t0001g0064 a0001c0001t0001g0157 |
2 | NA18990.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.1096-984A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360224 | |||||||
chr17:5360284 | C | T | 1 | a0001c0003t0003g0210 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1096-924C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360284 | |||||||
chr17:5360418 | C | T | 78 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(75): Show |
78 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(75): Show |
intron_variant | MODIFIER | c.1096-790C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360418 | |||||||
chr17:5360439 | G | A | 1 | a0001c0004t0012g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1096-769G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360439 | |||||||
chr17:5360459 | G | C | 1 | a0001c0002t0006g0127 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1096-749G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360459 | |||||||
chr17:5360541 | G | A | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1096-667G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360541 | |||||||
chr17:5360548 | C | T | 6 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1096-660C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360548 | |||||||
chr17:5360689 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1096-519C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360689 | |||||||
chr17:5360733 | G | A | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1096-475G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360733 | |||||||
chr17:5360854 | G | A | 8 | a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 others(5): Show |
8 | HG00733.hp1 HG02145.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1096-354G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360854 | |||||||
chr17:5360990 | G | A | 60 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(57): Show |
60 | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.1096-218G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5360990 | |||||||
chr17:5361079 | A | G | 1 | a0001c0001t0001g0054 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1096-129A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 8/17 | chr17 | 5361079 | |||||||
chr17:5361867 | G | A | 1 | a0001c0003t0003g0191 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1563+192G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5361867 | |||||||
chr17:5361957 | T | G | 1 | a0001c0001t0001g0296 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1563+282T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5361957 | |||||||
chr17:5362066 | A | G | 9 | a0001c0002t0006g0128 a0001c0002t0006g0130 a0001c0002t0006g0143 others(6): Show |
9 | HG00609.hp2 HG02040.hp1 HG02071.hp2 others(6): Show |
intron_variant | MODIFIER | c.1563+391A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5362066 | |||||||
chr17:5362361 | T | C | 114 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(111): Show |
115 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(112): Show |
intron_variant | MODIFIER | c.1564-551T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5362361 | |||||||
chr17:5362509 | C | T | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1564-403C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5362509 | |||||||
chr17:5362531 | G | C | 2 | a0001c0001t0001g0039 a0001c0001t0001g0073 |
2 | HG01261.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1564-381G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5362531 | |||||||
chr17:5362646 | C | A | 1 | a0001c0001t0011g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1564-266C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 9/17 | chr17 | 5362646 | |||||||
chr17:5363048 | A | G | 2 | a0001c0003t0018g0176 a0001c0003t0018g0348 |
2 | HG02738.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.1668+32A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363048 | |||||||
chr17:5363210 | T | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1668+194T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363210 | |||||||
chr17:5363213 | T | G | 3 | a0001c0005t0005g0277 a0001c0005t0005g0278 a0001c0005t0005g0281 |
3 | HG01109.hp1 HG02258.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1668+197T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363213 | |||||||
chr17:5363216 | G | T | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1668+200G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363216 | |||||||
chr17:5363217 | T | G | 2 | a0001c0001t0001g0040 a0001c0001t0034g0045 |
2 | HG00099.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.1668+201T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363217 | |||||||
chr17:5363257 | C | G | 1 | a0001c0002t0020g0161 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1668+241C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363257 | |||||||
chr17:5363344 | C | T | 1 | a0001c0013t0003g0199 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1668+328C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363344 | |||||||
chr17:5363369 | G | A | 6 | a0001c0002t0006g0006 a0001c0002t0006g0044 a0001c0002t0006g0095 others(3): Show |
6 | NA18940.hp2 NA18942.hp2 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.1668+353G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363369 | |||||||
chr17:5363549 | T | A | 182 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(179): Show |
184 | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(181): Show |
intron_variant | MODIFIER | c.1668+533T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363549 | |||||||
chr17:5363644 | T | C | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668+628T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363644 | |||||||
chr17:5363649 | T | C | 1 | a0001c0004t0002g0242 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1668+633T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363649 | |||||||
chr17:5363707 | G | T | 63 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(60): Show |
63 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(60): Show |
intron_variant | MODIFIER | c.1668+691G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363707 | |||||||
chr17:5363712 | G | A | 1 | a0001c0002t0004g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1668+696G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363712 | |||||||
chr17:5363862 | A | G | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1668+846A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363862 | |||||||
chr17:5363865 | GTT | G | 59 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(56): Show |
59 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.1668+851_1668+852d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5363865 | ||||||
chr17:5363962 | A | G | 3 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 |
3 | HG00280.hp1 HG01358.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1668+946A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5363962 | |||||||
chr17:5364001 | C | G | 2 | a0001c0003t0014g0008 a0001c0003t0014g0009 |
2 | NA18965.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.1668+985C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364001 | |||||||
chr17:5364016 | A | C | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1668+1000A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364016 | |||||||
chr17:5364116 | G | T | 4 | a0001c0001t0021g0235 a0001c0004t0012g0231 a0001c0004t0022g0239 others(1): Show |
4 | HG01243.hp2 HG02486.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1669-1006G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364116 | |||||||
chr17:5364173 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1669-949A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364173 | |||||||
chr17:5364346 | G | C | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1669-776G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364346 | |||||||
chr17:5364502 | C | T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0052 |
2 | HG02080.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.1669-620C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364502 | |||||||
chr17:5364516 | G | A | 2 | a0001c0001t0004g0110 a0001c0001t0004g0115 |
2 | NA18977.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.1669-606G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364516 | |||||||
chr17:5364588 | C | T | 2 | a0001c0005t0005g0270 a0001c0005t0005g0287 |
2 | HG02615.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1669-534C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364588 | |||||||
chr17:5364710 | C | CA | 39 | a0001c0001t0004g0299 a0001c0001t0011g0132 a0001c0001t0011g0133 others(36): Show |
39 | HG00738.hp2 HG01109.hp1 HG01167.hp2 others(36): Show |
intron_variant | MODIFIER | c.1669-393dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5364710 | ||||||
chr17:5364710 | CA | C | 97 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 others(94): Show |
99 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.1669-393delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5364710 | ||||||
chr17:5364710 | CAAA | C | 41 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(38): Show |
41 | HG00423.hp2 HG00438.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.1669-395_1669-393d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5364710 | ||||||
chr17:5364710 | CAAAAAAA others(4): Show |
C | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0009t0011g0346 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.1669-403_1669-393d others(13): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5364710 | ||||||
chr17:5364818 | G | T | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1669-304G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364818 | |||||||
chr17:5364932 | G | A | 1 | a0001c0002t0004g0320 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1669-190G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5364932 | |||||||
chr17:5364972 | TTATC | T | 24 | a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0006g0130 others(21): Show |
24 | HG00609.hp2 HG02027.hp1 HG02040.hp1 others(21): Show |
intron_variant | MODIFIER | c.1669-147_1669-144d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5364972 | ||||||
chr17:5365026 | T | C | 1 | a0001c0001t0007g0317 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1669-96T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5365026 | |||||||
chr17:5365042 | A | T | 284 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(281): Show |
287 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.1669-80A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5365042 | |||||||
chr17:5365061 | TA | T | 200 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(197): Show |
203 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(200): Show |
intron_variant | MODIFIER | c.1669-48delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5365061 | ||||||
chr17:5365061 | TAA | T | 65 | a0001c0001t0001g0060 a0001c0001t0001g0106 a0001c0001t0001g0111 others(62): Show |
65 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.1669-49_1669-48del others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr17 | 5365061 | ||||||
chr17:5365087 | T | G | 1 | a0001c0001t0007g0317 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1669-35T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 10/17 | chr17 | 5365087 | |||||||
chr17:5365278 | C | T | 1 | a0001c0004t0002g0254 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1785+40C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365278 | |||||||
chr17:5365316 | TGTTTTTT others(20): Show |
T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1785+84_1785+110de others(28): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5365316 | ||||||
chr17:5365317 | G | GT | 9 | a0001c0001t0001g0002 a0001c0002t0006g0006 a0001c0002t0006g0044 others(6): Show |
9 | HG00438.hp2 NA18940.hp2 NA18941.hp1 others(6): Show |
intron_variant | MODIFIER | c.1785+88dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5365317 | ||||||
chr17:5365417 | A | G | 99 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1785+179A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365417 | |||||||
chr17:5365429 | A | G | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1785+191A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365429 | |||||||
chr17:5365470 | C | G | 31 | a0001c0003t0003g0185 a0001c0003t0003g0188 a0001c0003t0003g0195 others(28): Show |
32 | HG00733.hp1 HG00741.hp2 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.1785+232C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365470 | |||||||
chr17:5365498 | G | C | 3 | a0001c0002t0006g0130 a0001c0002t0006g0154 a0001c0002t0006g0155 |
3 | HG02071.hp2 HG02735.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.1785+260G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365498 | |||||||
chr17:5365553 | A | G | 100 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(97): Show |
102 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.1785+315A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365553 | |||||||
chr17:5365814 | T | C | 1 | a0001c0002t0008g0144 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1785+576T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365814 | |||||||
chr17:5365837 | G | A | 112 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0257 others(109): Show |
113 | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.1785+599G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365837 | |||||||
chr17:5365888 | T | C | 68 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(65): Show |
68 | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(65): Show |
intron_variant | MODIFIER | c.1785+650T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5365888 | |||||||
chr17:5366002 | A | G | 1 | a0001c0002t0006g0100 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1785+764A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366002 | |||||||
chr17:5366016 | T | A | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1785+778T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366016 | |||||||
chr17:5366018 | T | A | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1785+780T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366018 | |||||||
chr17:5366284 | T | C | 1 | a0001c0001t0001g0028 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1785+1046T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366284 | |||||||
chr17:5366344 | A | G | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1785+1106A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366344 | |||||||
chr17:5366553 | TTCCTGCC others(819): Show |
T | 1 | a0001c0007t0011g0246 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1785+1345_1786-962 others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5366553 | ||||||
chr17:5366653 | C | T | 2 | a0001c0001t0019g0181 a0001c0001t0043g0180 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1785+1415C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366653 | |||||||
chr17:5366715 | G | A | 1 | a0001c0012t0002g0347 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1785+1477G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366715 | |||||||
chr17:5366860 | C | T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1786-1510C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366860 | |||||||
chr17:5366994 | C | T | 1 | a0001c0001t0001g0067 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1786-1376C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5366994 | |||||||
chr17:5367003 | C | T | 1 | a0001c0002t0025g0240 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1786-1367C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367003 | |||||||
chr17:5367011 | C | T | 2 | a0001c0001t0021g0235 a0001c0004t0022g0239 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1786-1359C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367011 | |||||||
chr17:5367020 | C | T | 1 | a0001c0001t0001g0028 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1786-1350C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367020 | |||||||
chr17:5367052 | G | A | 4 | a0001c0001t0032g0241 a0001c0002t0025g0240 a0001c0003t0044g0192 others(1): Show |
4 | HG00280.hp1 HG01358.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.1786-1318G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367052 | |||||||
chr17:5367084 | C | T | 2 | a0001c0001t0001g0054 a0001c0001t0027g0083 |
2 | HG00544.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.1786-1286C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367084 | |||||||
chr17:5367092 | A | C | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.1786-1278A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367092 | |||||||
chr17:5367093 | G | A | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.1786-1277G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367093 | |||||||
chr17:5367093 | GA | G | 71 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(68): Show |
72 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.1786-1266delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367093 | ||||||
chr17:5367094 | A | G | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.1786-1276A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367094 | |||||||
chr17:5367119 | T | C | 291 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(288): Show |
294 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(291): Show |
intron_variant | MODIFIER | c.1786-1251T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367119 | |||||||
chr17:5367163 | C | G | 1 | a0001c0001t0001g0067 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1786-1207C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367163 | |||||||
chr17:5367245 | T | TAC | 38 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0042 others(35): Show |
40 | HG00099.hp2 HG00280.hp1 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.1786-1099_1786-109 others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367245 | ||||||
chr17:5367245 | T | TACAC | 54 | a0001c0001t0001g0043 a0001c0001t0001g0305 a0001c0001t0001g0318 others(51): Show |
54 | HG00423.hp2 HG00438.hp1 HG00738.hp2 others(51): Show |
intron_variant | MODIFIER | c.1786-1101_1786-109 others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367245 | ||||||
chr17:5367245 | T | TACACAC | 27 | a0001c0001t0001g0080 a0001c0001t0001g0293 a0001c0001t0001g0295 others(24): Show |
27 | HG00642.hp2 HG01123.hp2 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.1786-1103_1786-109 others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367245 | ||||||
chr17:5367245 | T | TACACACA others(1): Show |
10 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0004g0299 others(7): Show |
10 | HG02145.hp2 HG02257.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1786-1105_1786-109 others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367245 | ||||||
chr17:5367245 | T | TACACACA others(3): Show |
6 | a0001c0004t0002g0242 a0001c0004t0010g0233 a0001c0004t0010g0234 others(3): Show |
6 | HG02886.hp2 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.1786-1107_1786-109 others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367245 | ||||||
chr17:5367245 | TAC | T | 6 | a0001c0001t0007g0317 a0001c0002t0004g0125 a0001c0002t0008g0142 others(3): Show |
6 | HG00741.hp2 HG01515.hp1 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.1786-1099_1786-109 others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367245 | ||||||
chr17:5367259 | C | A | 1 | a0001c0002t0004g0104 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1786-1111C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367259 | |||||||
chr17:5367310 | C | T | 1 | a0001c0004t0002g0301 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1786-1060C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367310 | |||||||
chr17:5367313 | C | T | 8 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show |
9 | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1786-1057C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367313 | |||||||
chr17:5367320 | A | G | 15 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(12): Show |
16 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(13): Show |
intron_variant | MODIFIER | c.1786-1050A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367320 | |||||||
chr17:5367328 | G | A | 1 | a0001c0003t0003g0219 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1786-1042G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367328 | |||||||
chr17:5367334 | C | T | 1 | a0001c0004t0010g0238 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1786-1036C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367334 | |||||||
chr17:5367340 | T | G | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1786-1030T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367340 | |||||||
chr17:5367357 | T | C | 2 | a0001c0001t0004g0105 a0001c0002t0006g0038 |
2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1786-1013T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367357 | |||||||
chr17:5367364 | C | T | 10 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
11 | HG01358.hp1 HG01891.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1786-1006C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367364 | |||||||
chr17:5367365 | A | G | 12 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
13 | HG01358.hp1 HG01891.hp2 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1786-1005A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367365 | |||||||
chr17:5367396 | T | C | 2 | a0001c0001t0030g0012 a0001c0002t0023g0162 |
2 | NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1786-974T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367396 | |||||||
chr17:5367397 | G | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1786-973G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367397 | |||||||
chr17:5367401 | A | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1786-969A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367401 | |||||||
chr17:5367409 | C | T | 8 | a0001c0001t0021g0235 a0001c0002t0023g0162 a0001c0004t0012g0163 others(5): Show |
8 | HG01109.hp1 HG02258.hp2 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.1786-961C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367409 | |||||||
chr17:5367416 | C | T | 1 | a0001c0002t0004g0101 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1786-954C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367416 | |||||||
chr17:5367417 | A | G | 62 | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0039 others(59): Show |
62 | HG00099.hp2 HG00438.hp1 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1786-953A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367417 | |||||||
chr17:5367419 | C | A | 5 | a0001c0001t0001g0040 a0001c0001t0001g0293 a0001c0001t0001g0296 others(2): Show |
5 | HG00099.hp1 HG00642.hp2 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.1786-951C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367419 | |||||||
chr17:5367419 | C | G | 1 | a0001c0003t0013g0186 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1786-951C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367419 | |||||||
chr17:5367420 | C | T | 6 | a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0011g0132 others(3): Show |
6 | HG00642.hp2 HG01123.hp2 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.1786-950C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367420 | |||||||
chr17:5367421 | G | A | 3 | a0001c0003t0003g0203 a0001c0003t0013g0186 a0001c0004t0012g0231 |
3 | HG01243.hp2 HG03927.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.1786-949G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367421 | |||||||
chr17:5367428 | C | T | 3 | a0001c0001t0021g0235 a0001c0003t0003g0197 a0001c0004t0002g0264 |
3 | HG02015.hp2 HG02486.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1786-942C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367428 | |||||||
chr17:5367429 | G | A | 1 | a0001c0002t0040g0109 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1786-941G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367429 | |||||||
chr17:5367432 | C | T | 1 | a0001c0004t0012g0231 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1786-938C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367432 | |||||||
chr17:5367433 | G | A | 2 | a0001c0005t0005g0273 a0001c0012t0002g0347 |
2 | HG00099.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1786-937G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367433 | |||||||
chr17:5367460 | G | A | 1 | a0001c0001t0007g0317 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1786-910G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367460 | |||||||
chr17:5367461 | G | A | 1 | a0001c0002t0006g0044 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1786-909G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367461 | |||||||
chr17:5367473 | C | G | 6 | a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0276 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1786-897C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367473 | |||||||
chr17:5367513 | T | C | 4 | a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0157 others(1): Show |
4 | NA18960.hp1 NA18990.hp1 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.1786-857T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367513 | |||||||
chr17:5367533 | T | G | 33 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(30): Show |
34 | HG01358.hp1 HG01891.hp1 HG01891.hp2 others(31): Show |
intron_variant | MODIFIER | c.1786-837T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367533 | |||||||
chr17:5367537 | A | G | 1 | a0001c0002t0004g0102 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1786-833A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367537 | |||||||
chr17:5367537 | AGGATTAC others(481): Show |
A | 26 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(23): Show |
27 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.1786-821_1786-334d others(2): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5367537 | ||||||
chr17:5367563 | C | T | 1 | a0001c0001t0001g0019 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.1786-807C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367563 | |||||||
chr17:5367565 | A | G | 1 | a0001c0001t0001g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1786-805A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367565 | |||||||
chr17:5367598 | T | C | 174 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(171): Show |
175 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.1786-772T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367598 | |||||||
chr17:5367604 | G | T | 1 | a0001c0002t0006g0036 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1786-766G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367604 | |||||||
chr17:5367676 | A | G | 2 | a0001c0002t0004g0101 a0001c0002t0004g0136 |
2 | HG03209.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1786-694A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367676 | |||||||
chr17:5367725 | A | T | 1 | a0001c0001t0004g0105 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1786-645A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367725 | |||||||
chr17:5367773 | G | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0016 |
2 | HG02257.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.1786-597G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367773 | |||||||
chr17:5367835 | A | G | 2 | a0001c0004t0010g0233 a0001c0004t0010g0234 |
2 | HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1786-535A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367835 | |||||||
chr17:5367840 | T | C | 9 | a0001c0002t0004g0123 a0001c0002t0004g0134 a0001c0002t0004g0135 others(6): Show |
9 | HG01243.hp2 HG01358.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1786-530T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367840 | |||||||
chr17:5367895 | C | T | 229 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(226): Show |
231 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(228): Show |
intron_variant | MODIFIER | c.1786-475C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367895 | |||||||
chr17:5367904 | G | A | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1786-466G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367904 | |||||||
chr17:5367913 | C | A | 2 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1786-457C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367913 | |||||||
chr17:5367969 | C | T | 2 | a0001c0001t0001g0051 a0001c0001t0001g0075 |
2 | NA18969.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.1786-401C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367969 | |||||||
chr17:5367972 | G | A | 4 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(1): Show |
4 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1786-398G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367972 | |||||||
chr17:5367977 | G | A | 6 | a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0276 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1786-393G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5367977 | |||||||
chr17:5368004 | G | A | 1 | a0001c0004t0012g0167 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1786-366G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5368004 | |||||||
chr17:5368039 | A | G | 26 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(23): Show |
27 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.1786-331A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5368039 | |||||||
chr17:5368041 | G | A | 26 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(23): Show |
27 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.1786-329G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5368041 | |||||||
chr17:5368156 | T | C | 32 | a0001c0001t0001g0058 a0001c0001t0007g0313 a0001c0001t0007g0314 others(29): Show |
32 | HG00609.hp2 HG00621.hp1 HG02027.hp1 others(29): Show |
intron_variant | MODIFIER | c.1786-214T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5368156 | |||||||
chr17:5368159 | A | G | 1 | a0001c0003t0013g0225 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1786-211A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5368159 | |||||||
chr17:5368159 | A | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1786-211A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | chr17 | 5368159 | |||||||
chr17:5368293 | ATAGT | A | 27 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(24): Show |
28 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.1786-73_1786-70del others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | 5368293 | ||||||
chr17:5368500 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1884+32T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368500 | |||||||
chr17:5368509 | A | G | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.1884+41A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368509 | |||||||
chr17:5368605 | A | G | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1884+137A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368605 | |||||||
chr17:5368815 | T | G | 8 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0012g0163 others(5): Show |
8 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1884+347T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368815 | |||||||
chr17:5368880 | G | A | 1 | a0001c0001t0001g0111 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1884+412G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368880 | |||||||
chr17:5368909 | C | A | 32 | a0001c0001t0001g0257 a0001c0004t0002g0004 a0001c0004t0002g0005 others(29): Show |
33 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(30): Show |
intron_variant | MODIFIER | c.1884+441C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368909 | |||||||
chr17:5368959 | C | T | 158 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(155): Show |
159 | HG00099.hp2 HG00544.hp2 HG00609.hp1 others(156): Show |
intron_variant | MODIFIER | c.1884+491C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5368959 | |||||||
chr17:5369101 | T | C | 2 | a0001c0004t0002g0251 a0001c0004t0002g0263 |
2 | HG00621.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.1884+633T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369101 | |||||||
chr17:5369124 | T | A | 2 | a0001c0001t0001g0046 a0001c0001t0001g0052 |
2 | HG02080.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.1884+656T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369124 | |||||||
chr17:5369243 | C | T | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1884+775C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369243 | |||||||
chr17:5369285 | C | A | 110 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(107): Show |
111 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(108): Show |
intron_variant | MODIFIER | c.1884+817C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369285 | |||||||
chr17:5369413 | G | A | 12 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(9): Show |
12 | HG00544.hp2 HG00673.hp1 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.1884+945G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369413 | |||||||
chr17:5369554 | A | C | 1 | a0001c0001t0001g0043 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1884+1086A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369554 | |||||||
chr17:5369655 | G | A | 4 | a0001c0004t0002g0242 a0001c0004t0002g0294 a0001c0004t0002g0300 others(1): Show |
4 | HG02257.hp1 HG02976.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1884+1187G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369655 | |||||||
chr17:5369994 | C | T | 1 | a0001c0002t0006g0171 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1884+1526C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5369994 | |||||||
chr17:5370114 | A | G | 1 | a0001c0005t0005g0275 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1884+1646A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370114 | |||||||
chr17:5370121 | C | A | 1 | a0001c0005t0005g0269 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1884+1653C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370121 | |||||||
chr17:5370302 | G | C | 1 | a0001c0002t0006g0154 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1884+1834G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370302 | |||||||
chr17:5370331 | CAA | C | 19 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0318 others(16): Show |
19 | HG00423.hp2 HG00438.hp1 HG02040.hp2 others(16): Show |
intron_variant | MODIFIER | c.1884+1865_1884+186 others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | 5370331 | ||||||
chr17:5370349 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1884+1881C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370349 | |||||||
chr17:5370471 | G | A | 2 | a0001c0013t0003g0199 a0003c0014t0014g0200 |
2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1884+2003G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370471 | |||||||
chr17:5370495 | A | G | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1884+2027A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370495 | |||||||
chr17:5370596 | T | C | 1 | a0001c0002t0006g0059 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1884+2128T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370596 | |||||||
chr17:5370965 | C | CT | 40 | a0001c0001t0001g0030 a0001c0001t0001g0081 a0001c0001t0001g0165 others(37): Show |
40 | HG00738.hp2 HG01109.hp1 HG01167.hp2 others(37): Show |
intron_variant | MODIFIER | c.1885-2336dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | 5370965 | ||||||
chr17:5370966 | T | C | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1885-2348T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370966 | |||||||
chr17:5370967 | T | C | 15 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(12): Show |
15 | HG00642.hp2 HG00741.hp1 HG01123.hp2 others(12): Show |
intron_variant | MODIFIER | c.1885-2347T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370967 | |||||||
chr17:5370989 | C | T | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1885-2325C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5370989 | |||||||
chr17:5371067 | C | T | 5 | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 others(2): Show |
5 | HG02027.hp2 HG02074.hp1 HG02083.hp1 others(2): Show |
intron_variant | MODIFIER | c.1885-2247C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371067 | |||||||
chr17:5371127 | T | C | 9 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0004g0299 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1885-2187T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371127 | |||||||
chr17:5371236 | G | A | 1 | a0001c0001t0001g0080 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1885-2078G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371236 | |||||||
chr17:5371254 | C | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1885-2060C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371254 | |||||||
chr17:5371503 | C | T | 1 | a0001c0001t0001g0293 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1885-1811C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371503 | |||||||
chr17:5371652 | T | C | 163 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(160): Show |
164 | HG00099.hp2 HG00544.hp2 HG00609.hp1 others(161): Show |
intron_variant | MODIFIER | c.1885-1662T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371652 | |||||||
chr17:5371778 | A | G | 5 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(2): Show |
5 | HG02451.hp2 HG02486.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.1885-1536A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371778 | |||||||
chr17:5371911 | A | G | 1 | a0001c0001t0004g0299 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1885-1403A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5371911 | |||||||
chr17:5372049 | C | T | 1 | a0001c0004t0002g0259 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.1885-1265C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372049 | |||||||
chr17:5372226 | C | T | 1 | a0001c0001t0001g0293 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1885-1088C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372226 | |||||||
chr17:5372368 | C | T | 11 | a0001c0002t0001g0331 a0001c0002t0004g0304 a0001c0002t0004g0308 others(8): Show |
11 | HG01069.hp1 HG01071.hp1 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.1885-946C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372368 | |||||||
chr17:5372400 | G | A | 28 | a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0005t0005g0270 others(25): Show |
28 | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.1885-914G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372400 | |||||||
chr17:5372494 | A | G | 2 | a0001c0002t0008g0144 a0001c0002t0008g0145 |
2 | NA18612.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.1885-820A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372494 | |||||||
chr17:5372621 | C | G | 76 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(73): Show |
77 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.1885-693C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372621 | |||||||
chr17:5372623 | G | A | 292 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(289): Show |
295 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
intron_variant | MODIFIER | c.1885-691G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372623 | |||||||
chr17:5372759 | AT | A | 194 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(191): Show |
196 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(193): Show |
intron_variant | MODIFIER | c.1885-540delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | 5372759 | ||||||
chr17:5372841 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1885-473C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372841 | |||||||
chr17:5372861 | T | A | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1885-453T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372861 | |||||||
chr17:5372909 | C | T | 1 | a0001c0001t0033g0298 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1885-405C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372909 | |||||||
chr17:5372929 | C | T | 148 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(145): Show |
149 | HG00099.hp2 HG00544.hp2 HG00609.hp1 others(146): Show |
intron_variant | MODIFIER | c.1885-385C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5372929 | |||||||
chr17:5373046 | C | A | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.1885-268C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5373046 | |||||||
chr17:5373112 | A | G | 1 | a0001c0001t0001g0056 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1885-202A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5373112 | |||||||
chr17:5373207 | C | T | 1 | a0001c0001t0016g0175 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1885-107C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5373207 | |||||||
chr17:5373236 | A | T | 79 | a0001c0001t0001g0257 a0001c0001t0001g0293 a0001c0001t0001g0295 others(76): Show |
80 | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(77): Show |
intron_variant | MODIFIER | c.1885-78A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5373236 | |||||||
chr17:5373239 | T | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1885-75T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 12/17 | chr17 | 5373239 | |||||||
chr17:5373474 | A | G | 2 | a0001c0001t0001g0064 a0001c0001t0001g0157 |
2 | NA18990.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.2025+20A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373474 | |||||||
chr17:5373495 | G | A | 6 | a0001c0002t0004g0101 a0001c0002t0004g0124 a0001c0002t0004g0125 others(3): Show |
6 | HG01891.hp1 HG02818.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.2025+41G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373495 | |||||||
chr17:5373639 | G | C | 291 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(288): Show |
294 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(291): Show |
intron_variant | MODIFIER | c.2025+185G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373639 | |||||||
chr17:5373661 | A | G | 9 | a0001c0001t0001g0031 a0001c0001t0019g0181 a0001c0001t0043g0180 others(6): Show |
9 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(6): Show |
intron_variant | MODIFIER | c.2025+207A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373661 | |||||||
chr17:5373693 | A | AAC | 22 | a0001c0001t0001g0030 a0001c0001t0001g0064 a0001c0001t0001g0081 others(19): Show |
22 | HG00609.hp1 HG00741.hp2 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.2025+282_2025+283d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACAC | 26 | a0001c0001t0001g0054 a0001c0001t0001g0112 a0001c0001t0001g0296 others(23): Show |
27 | HG00544.hp1 HG00621.hp2 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.2025+280_2025+283d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACACAC | 32 | a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0002t0004g0103 others(29): Show |
33 | HG00642.hp1 HG00673.hp1 HG01071.hp2 others(30): Show |
intron_variant | MODIFIER | c.2025+278_2025+283d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACACACA others(1): Show |
11 | a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0068 others(8): Show |
11 | HG01167.hp1 HG01192.hp1 HG01255.hp1 others(8): Show |
intron_variant | MODIFIER | c.2025+276_2025+283d others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACACACA others(3): Show |
8 | a0001c0001t0001g0057 a0001c0001t0001g0111 a0001c0001t0001g0114 others(5): Show |
8 | HG00738.hp1 HG01978.hp2 NA18964.hp2 others(5): Show |
intron_variant | MODIFIER | c.2025+274_2025+283d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACACACA others(5): Show |
7 | a0001c0001t0001g0293 a0001c0002t0008g0126 a0001c0002t0008g0140 others(4): Show |
7 | HG00642.hp2 HG01069.hp1 HG02027.hp1 others(4): Show |
intron_variant | MODIFIER | c.2025+272_2025+283d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACACACA others(7): Show |
3 | a0001c0002t0008g0152 a0001c0002t0008g0153 a0002c0006t0015g0340 |
3 | HG01071.hp1 NA18999.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.2025+270_2025+283d others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | AACACACA others(9): Show |
1 | a0001c0003t0003g0193 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2025+268_2025+283d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | A | ACACACAC others(6): Show |
1 | a0001c0002t0004g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2025+239_2025+240i others(15): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373693 | |||||||
chr17:5373693 | A | ACACACAC others(16): Show |
1 | a0001c0002t0006g0154 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2025+239_2025+240i others(25): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373693 | |||||||
chr17:5373693 | AAC | A | 12 | a0001c0001t0001g0316 a0001c0001t0011g0133 a0001c0001t0016g0173 others(9): Show |
12 | HG00099.hp2 HG00280.hp1 HG01952.hp1 others(9): Show |
intron_variant | MODIFIER | c.2025+282_2025+283d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACAC | A | 15 | a0001c0001t0001g0040 a0001c0001t0007g0326 a0001c0001t0007g0330 others(12): Show |
15 | HG00099.hp1 HG02015.hp2 HG02040.hp1 others(12): Show |
intron_variant | MODIFIER | c.2025+280_2025+283d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACAC | A | 24 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(21): Show |
24 | HG01243.hp1 HG01884.hp1 HG02074.hp2 others(21): Show |
intron_variant | MODIFIER | c.2025+278_2025+283d others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(1): Show |
A | 37 | a0001c0001t0001g0015 a0001c0001t0001g0079 a0001c0001t0001g0088 others(34): Show |
38 | HG00438.hp1 HG00738.hp2 HG01081.hp1 others(35): Show |
intron_variant | MODIFIER | c.2025+276_2025+283d others(10): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(3): Show |
A | 22 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(19): Show |
22 | HG01496.hp1 HG01928.hp1 HG01952.hp2 others(19): Show |
intron_variant | MODIFIER | c.2025+274_2025+283d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(5): Show |
A | 19 | a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0070 others(16): Show |
19 | HG00733.hp2 HG01934.hp2 HG02523.hp2 others(16): Show |
intron_variant | MODIFIER | c.2025+272_2025+283d others(14): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(7): Show |
A | 54 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(51): Show |
55 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(52): Show |
intron_variant | MODIFIER | c.2025+270_2025+283d others(16): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(9): Show |
A | 1 | a0003c0014t0014g0200 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2025+268_2025+283d others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(13): Show |
A | 1 | a0001c0001t0028g0022 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2025+264_2025+283d others(22): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(15): Show |
A | 3 | a0001c0001t0001g0069 a0001c0002t0006g0147 a0001c0002t0006g0148 |
3 | HG00609.hp2 NA18959.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.2025+262_2025+283d others(24): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(17): Show |
A | 2 | a0001c0002t0025g0240 a0001c0005t0038g0283 |
2 | HG01358.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2025+260_2025+283d others(26): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(21): Show |
A | 1 | a0001c0001t0007g0322 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.2025+256_2025+283d others(30): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373693 | AACACACA others(25): Show |
A | 1 | a0001c0003t0003g0191 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2025+252_2025+283d others(34): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5373693 | ||||||
chr17:5373737 | C | CACACACA others(8): Show |
1 | a0001c0001t0001g0118 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2025+283_2025+284i others(17): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373737 | |||||||
chr17:5373807 | T | C | 3 | a0001c0001t0004g0299 a0001c0001t0011g0132 a0001c0001t0011g0133 |
3 | HG02896.hp1 HG02897.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2025+353T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373807 | |||||||
chr17:5373866 | G | A | 215 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(212): Show |
218 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(215): Show |
intron_variant | MODIFIER | c.2025+412G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373866 | |||||||
chr17:5373866 | G | C | 6 | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show |
6 | HG00738.hp1 HG01081.hp2 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.2025+412G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373866 | |||||||
chr17:5373953 | G | A | 1 | a0001c0005t0038g0283 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.2025+499G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5373953 | |||||||
chr17:5374099 | ATCTGTCA others(566): Show |
A | 2 | a0001c0004t0012g0163 a0001c0004t0012g0164 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2025+669_2025+1241 others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5374099 | ||||||
chr17:5374243 | T | C | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2025+789T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374243 | |||||||
chr17:5374247 | T | C | 1 | a0001c0001t0034g0045 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2025+793T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374247 | |||||||
chr17:5374303 | C | A | 293 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(290): Show |
296 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(293): Show |
intron_variant | MODIFIER | c.2025+849C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374303 | |||||||
chr17:5374372 | T | G | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.2025+918T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374372 | |||||||
chr17:5374434 | A | T | 216 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(213): Show |
218 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.2025+980A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374434 | |||||||
chr17:5374582 | G | A | 5 | a0001c0001t0042g0345 a0001c0004t0002g0242 a0001c0004t0002g0294 others(2): Show |
5 | HG02257.hp1 HG02717.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2025+1128G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374582 | |||||||
chr17:5374586 | G | A | 3 | a0001c0004t0002g0294 a0001c0004t0002g0300 a0001c0004t0002g0301 |
3 | HG02257.hp1 HG02976.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2025+1132G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374586 | |||||||
chr17:5374624 | T | A | 2 | a0001c0004t0012g0167 a0001c0004t0012g0168 |
2 | HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2025+1170T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374624 | |||||||
chr17:5374627 | T | C | 5 | a0001c0004t0012g0231 a0001c0004t0017g0290 a0001c0004t0017g0291 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(2): Show |
intron_variant | MODIFIER | c.2025+1173T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374627 | |||||||
chr17:5374685 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.2025+1231G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374685 | |||||||
chr17:5374763 | C | T | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2025+1309C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374763 | |||||||
chr17:5374885 | G | A | 6 | a0001c0003t0003g0194 a0001c0003t0003g0212 a0001c0003t0003g0215 others(3): Show |
6 | HG00741.hp2 HG02109.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.2025+1431G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374885 | |||||||
chr17:5374888 | C | T | 4 | a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0159 others(1): Show |
4 | HG01884.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.2025+1434C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374888 | |||||||
chr17:5374909 | G | A | 3 | a0001c0005t0005g0271 a0001c0005t0005g0280 a0001c0005t0037g0267 |
3 | HG01243.hp1 HG02572.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2025+1455G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374909 | |||||||
chr17:5374973 | C | T | 1 | a0001c0005t0005g0269 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2025+1519C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374973 | |||||||
chr17:5374987 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2025+1533G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5374987 | |||||||
chr17:5375012 | G | A | 212 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(209): Show |
214 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(211): Show |
intron_variant | MODIFIER | c.2025+1558G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375012 | |||||||
chr17:5375057 | A | C | 2 | a0001c0004t0012g0163 a0001c0004t0012g0164 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2025+1603A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375057 | |||||||
chr17:5375099 | C | CT | 43 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0007g0330 others(40): Show |
44 | HG00609.hp2 HG00621.hp2 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.2025+1662dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5375099 | ||||||
chr17:5375112 | T | TTC | 6 | a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0276 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2025+1659_2025+166 others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5375112 | ||||||
chr17:5375210 | A | G | 1 | a0001c0004t0002g0254 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2025+1756A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375210 | |||||||
chr17:5375228 | GTTAT | G | 63 | a0001c0002t0001g0331 a0001c0002t0004g0101 a0001c0002t0004g0102 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.2025+1777_2025+178 others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5375228 | ||||||
chr17:5375284 | T | C | 5 | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 others(2): Show |
5 | HG02027.hp2 HG02074.hp1 HG02083.hp1 others(2): Show |
intron_variant | MODIFIER | c.2025+1830T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375284 | |||||||
chr17:5375452 | G | A | 1 | a0001c0001t0001g0032 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2026-1664G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375452 | |||||||
chr17:5375542 | A | C | 6 | a0001c0001t0004g0105 a0001c0001t0004g0110 a0001c0001t0004g0115 others(3): Show |
6 | NA18960.hp1 NA18969.hp2 NA18977.hp1 others(3): Show |
intron_variant | MODIFIER | c.2026-1574A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375542 | |||||||
chr17:5375604 | C | T | 2 | a0001c0003t0003g0201 a0001c0003t0003g0204 |
2 | HG01261.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.2026-1512C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375604 | |||||||
chr17:5375613 | G | C | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2026-1503G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375613 | |||||||
chr17:5375704 | C | T | 1 | a0001c0005t0005g0287 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2026-1412C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375704 | |||||||
chr17:5375739 | T | G | 1 | a0001c0004t0012g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2026-1377T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375739 | |||||||
chr17:5375760 | A | C | 63 | a0001c0002t0001g0331 a0001c0002t0004g0101 a0001c0002t0004g0102 others(60): Show |
63 | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.2026-1356A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375760 | |||||||
chr17:5375862 | T | TTTTA | 127 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(124): Show |
128 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.2026-1230_2026-122 others(8): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5375862 | ||||||
chr17:5375862 | T | TTTTATTT others(1): Show |
8 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0033 others(5): Show |
9 | HG04199.hp1 NA18941.hp1 NA18945.hp1 others(6): Show |
intron_variant | MODIFIER | c.2026-1234_2026-122 others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | 5375862 | ||||||
chr17:5375890 | T | A | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2026-1226T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375890 | |||||||
chr17:5375934 | G | A | 1 | a0001c0001t0001g0257 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2026-1182G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5375934 | |||||||
chr17:5376042 | T | C | 3 | a0001c0004t0012g0231 a0001c0004t0022g0239 a0001c0004t0039g0232 |
3 | HG01243.hp2 HG03516.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2026-1074T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5376042 | |||||||
chr17:5376134 | G | A | 1 | a0001c0002t0040g0109 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2026-982G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5376134 | |||||||
chr17:5376436 | G | A | 1 | a0001c0002t0004g0119 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2026-680G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5376436 | |||||||
chr17:5376681 | A | G | 2 | a0001c0002t0006g0100 a0001c0002t0006g0127 |
2 | HG03017.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.2026-435A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5376681 | |||||||
chr17:5376798 | G | C | 4 | a0001c0004t0002g0242 a0001c0004t0002g0294 a0001c0004t0002g0300 others(1): Show |
4 | HG02257.hp1 HG02976.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.2026-318G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5376798 | |||||||
chr17:5377066 | A | G | 1 | a0001c0002t0006g0146 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.2026-50A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5377066 | |||||||
chr17:5377077 | C | G | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2026-39C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | chr17 | 5377077 | |||||||
chr17:5377331 | G | GAAA | 6 | a0001c0002t0004g0101 a0001c0002t0004g0124 a0001c0002t0004g0125 others(3): Show |
6 | HG01891.hp1 HG02818.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.2215+28_2215+29ins others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr17 | 5377331 | ||||||
chr17:5377395 | C | T | 1 | a0001c0004t0010g0237 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2215+90C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377395 | |||||||
chr17:5377514 | T | TA | 4 | a0001c0004t0002g0129 a0001c0004t0002g0158 a0001c0004t0002g0252 others(1): Show |
4 | HG00099.hp2 HG01884.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.2215+215dupA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr17 | 5377514 | ||||||
chr17:5377514 | TA | T | 68 | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0069 others(65): Show |
68 | HG00544.hp2 HG00609.hp2 HG00673.hp1 others(65): Show |
intron_variant | MODIFIER | c.2215+215delA | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr17 | 5377514 | ||||||
chr17:5377514 | TAA | T | 4 | a0001c0002t0004g0101 a0001c0002t0004g0138 a0001c0002t0008g0160 others(1): Show |
4 | HG01975.hp2 HG03139.hp2 NA19058.hp1 others(1): Show |
intron_variant | MODIFIER | c.2215+214_2215+215d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr17 | 5377514 | ||||||
chr17:5377518 | A | AT | 23 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 others(20): Show |
23 | HG00423.hp1 HG00642.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.2215+213_2215+214i others(3): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377518 | |||||||
chr17:5377519 | A | T | 147 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(144): Show |
148 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.2215+214A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377519 | |||||||
chr17:5377520 | A | AT | 6 | a0001c0003t0003g0188 a0001c0003t0010g0013 a0001c0005t0005g0273 others(3): Show |
6 | HG01175.hp2 HG01891.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2215+238dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr17 | 5377520 | ||||||
chr17:5377520 | A | T | 217 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(214): Show |
218 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2215+215A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377520 | |||||||
chr17:5377520 | AT | A | 7 | a0001c0003t0003g0185 a0001c0003t0003g0224 a0001c0003t0003g0226 others(4): Show |
7 | HG01167.hp1 HG01515.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.2215+238delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr17 | 5377520 | ||||||
chr17:5377521 | T | A | 29 | a0001c0002t0002g0097 a0001c0003t0003g0219 a0001c0004t0002g0004 others(26): Show |
30 | HG00621.hp2 HG00642.hp1 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.2215+216T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377521 | |||||||
chr17:5377522 | T | A | 1 | a0001c0004t0002g0261 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.2215+217T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377522 | |||||||
chr17:5377588 | G | A | 1 | a0001c0002t0004g0136 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2215+283G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377588 | |||||||
chr17:5377589 | C | T | 2 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2215+284C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377589 | |||||||
chr17:5377665 | T | C | 1 | a0001c0005t0005g0270 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2215+360T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377665 | |||||||
chr17:5377719 | G | T | 1 | a0001c0001t0001g0019 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2215+414G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5377719 | |||||||
chr17:5378051 | C | T | 1 | a0001c0001t0032g0241 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2216-126C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 14/17 | chr17 | 5378051 | |||||||
chr17:5378339 | C | T | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2271+107C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378339 | |||||||
chr17:5378463 | G | A | 103 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(100): Show |
104 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(101): Show |
intron_variant | MODIFIER | c.2271+231G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378463 | |||||||
chr17:5378506 | C | G | 2 | a0001c0004t0012g0231 a0001c0004t0039g0232 |
2 | HG01243.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2271+274C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378506 | |||||||
chr17:5378517 | A | G | 1 | a0001c0003t0003g0210 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2271+285A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378517 | |||||||
chr17:5378614 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2271+382C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378614 | |||||||
chr17:5378694 | T | C | 293 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(290): Show |
296 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(293): Show |
intron_variant | MODIFIER | c.2271+462T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378694 | |||||||
chr17:5378805 | C | T | 72 | a0001c0002t0001g0331 a0001c0002t0004g0101 a0001c0002t0004g0102 others(69): Show |
72 | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.2271+573C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378805 | |||||||
chr17:5378904 | T | C | 2 | a0001c0002t0004g0116 a0004c0010t0004g0107 |
2 | NA18969.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.2271+672T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5378904 | |||||||
chr17:5379046 | T | C | 1 | a0001c0003t0013g0228 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2271+814T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379046 | |||||||
chr17:5379102 | C | T | 2 | a0001c0003t0003g0187 a0001c0003t0003g0226 |
2 | HG01167.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.2271+870C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379102 | |||||||
chr17:5379271 | A | G | 2 | a0001c0005t0005g0337 a0001c0005t0005g0338 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2271+1039A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379271 | |||||||
chr17:5379287 | C | G | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.2271+1055C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379287 | |||||||
chr17:5379466 | C | T | 210 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(207): Show |
211 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(208): Show |
intron_variant | MODIFIER | c.2272-898C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379466 | |||||||
chr17:5379468 | C | T | 210 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(207): Show |
211 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(208): Show |
intron_variant | MODIFIER | c.2272-896C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379468 | |||||||
chr17:5379491 | CCT | C | 3 | a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0001g0327 |
3 | HG00741.hp1 HG01433.hp2 HG01952.hp1 |
intron_variant | MODIFIER | c.2272-870_2272-869d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr17 | 5379491 | ||||||
chr17:5379512 | T | C | 1 | a0002c0008t0001g0292 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2272-852T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379512 | |||||||
chr17:5379653 | CTT | C | 3 | a0001c0001t0016g0173 a0001c0001t0016g0174 a0001c0001t0016g0175 |
3 | HG02280.hp1 HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2272-709_2272-708d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr17 | 5379653 | ||||||
chr17:5379663 | A | G | 1 | a0001c0002t0001g0331 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.2272-701A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379663 | |||||||
chr17:5379704 | C | T | 1 | a0001c0003t0003g0227 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2272-660C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379704 | |||||||
chr17:5379779 | C | T | 1 | a0001c0003t0003g0215 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2272-585C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379779 | |||||||
chr17:5379781 | C | T | 2 | a0001c0004t0012g0163 a0001c0004t0012g0164 |
2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2272-583C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379781 | |||||||
chr17:5379782 | G | A | 1 | a0001c0001t0001g0053 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2272-582G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379782 | |||||||
chr17:5379872 | A | ACAC | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2272-490_2272-488d others(5): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr17 | 5379872 | ||||||
chr17:5379927 | G | A | 1 | a0001c0001t0004g0299 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2272-437G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379927 | |||||||
chr17:5379944 | T | C | 74 | a0001c0001t0027g0083 a0001c0002t0001g0331 a0001c0002t0002g0097 others(71): Show |
74 | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(71): Show |
intron_variant | MODIFIER | c.2272-420T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379944 | |||||||
chr17:5379957 | A | G | 140 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(137): Show |
141 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.2272-407A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379957 | |||||||
chr17:5379991 | C | T | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2272-373C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5379991 | |||||||
chr17:5380172 | C | T | 1 | a0001c0005t0005g0274 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2272-192C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5380172 | |||||||
chr17:5380322 | A | T | 221 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(218): Show |
222 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(219): Show |
intron_variant | MODIFIER | c.2272-42A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 15/17 | chr17 | 5380322 | |||||||
chr17:5380614 | C | T | 10 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(7): Show |
10 | HG00642.hp2 HG00741.hp1 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.2370+152C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380614 | |||||||
chr17:5380652 | C | T | 8 | a0001c0001t0007g0309 a0001c0001t0007g0310 a0001c0001t0007g0311 others(5): Show |
8 | HG02040.hp2 NA18940.hp1 NA18953.hp2 others(5): Show |
intron_variant | MODIFIER | c.2370+190C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380652 | |||||||
chr17:5380664 | C | G | 5 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0042 others(2): Show |
6 | NA18941.hp1 NA18945.hp1 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.2370+202C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380664 | |||||||
chr17:5380726 | G | A | 1 | a0001c0004t0002g0266 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.2370+264G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380726 | |||||||
chr17:5380847 | G | C | 4 | a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0159 others(1): Show |
4 | HG01884.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.2370+385G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380847 | |||||||
chr17:5380917 | C | T | 1 | a0001c0002t0008g0142 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2370+455C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380917 | |||||||
chr17:5380925 | C | T | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.2370+463C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380925 | |||||||
chr17:5380979 | A | G | 2 | a0001c0001t0001g0048 a0001c0001t0001g0055 |
2 | NA19054.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.2371-410A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5380979 | |||||||
chr17:5381185 | T | C | 212 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(209): Show |
213 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(210): Show |
intron_variant | MODIFIER | c.2371-204T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5381185 | |||||||
chr17:5381248 | TAA | T | 212 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(209): Show |
213 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(210): Show |
intron_variant | MODIFIER | c.2371-139_2371-138d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | 5381248 | ||||||
chr17:5381261 | C | T | 5 | a0001c0004t0010g0233 a0001c0004t0010g0234 a0001c0004t0010g0236 others(2): Show |
5 | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2371-128C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5381261 | |||||||
chr17:5381361 | A | G | 1 | a0001c0001t0001g0042 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2371-28A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 16/17 | chr17 | 5381361 | |||||||
chr17:5381591 | G | A | 2 | a0001c0004t0002g0129 a0001c0004t0002g0158 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.2487+86G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381591 | |||||||
chr17:5381622 | A | G | 1 | a0001c0001t0042g0345 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2487+117A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381622 | |||||||
chr17:5381679 | C | A | 2 | a0001c0003t0010g0001 a0001c0003t0010g0013 |
3 | HG01891.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2487+174C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381679 | |||||||
chr17:5381691 | TTTTC | T | 212 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(209): Show |
213 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(210): Show |
intron_variant | MODIFIER | c.2487+190_2487+193d others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5381691 | ||||||
chr17:5381899 | C | CTCCTT | 6 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2487+397_2487+401d others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5381899 | ||||||
chr17:5381921 | G | A | 1 | a0001c0004t0010g0236 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2487+416G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381921 | |||||||
chr17:5381925 | G | C | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+420G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381925 | |||||||
chr17:5381926 | T | A | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+421T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381926 | |||||||
chr17:5381927 | C | T | 221 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(218): Show |
222 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(219): Show |
intron_variant | MODIFIER | c.2487+422C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381927 | |||||||
chr17:5381930 | T | A | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+425T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381930 | |||||||
chr17:5381932 | C | A | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+427C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381932 | |||||||
chr17:5381934 | C | G | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+429C>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381934 | |||||||
chr17:5381935 | T | A | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+430T>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381935 | |||||||
chr17:5381937 | T | G | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+432T>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381937 | |||||||
chr17:5381938 | G | A | 2 | a0001c0001t0007g0307 a0001c0003t0003g0213 |
2 | HG00423.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.2487+433G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381938 | |||||||
chr17:5381941 | G | T | 1 | a0001c0003t0003g0213 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2487+436G>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5381941 | |||||||
chr17:5382083 | A | AT | 6 | a0001c0003t0003g0213 a0001c0004t0002g0071 a0001c0004t0002g0129 others(3): Show |
6 | HG00673.hp2 HG01884.hp2 HG01934.hp1 others(3): Show |
intron_variant | MODIFIER | c.2487+593dupT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5382083 | ||||||
chr17:5382083 | AT | A | 207 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(204): Show |
208 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(205): Show |
intron_variant | MODIFIER | c.2487+593delT | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5382083 | ||||||
chr17:5382083 | ATT | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2487+592_2487+593d others(4): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5382083 | ||||||
chr17:5382272 | G | C | 1 | a0001c0004t0012g0231 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2487+767G>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382272 | |||||||
chr17:5382325 | A | G | 4 | a0001c0002t0008g0126 a0001c0002t0008g0140 a0001c0002t0008g0141 others(1): Show |
4 | HG02027.hp1 HG02080.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.2488-797A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382325 | |||||||
chr17:5382330 | C | A | 4 | a0001c0002t0008g0126 a0001c0002t0008g0140 a0001c0002t0008g0141 others(1): Show |
4 | HG02027.hp1 HG02080.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.2488-792C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382330 | |||||||
chr17:5382372 | G | A | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2488-750G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382372 | |||||||
chr17:5382378 | G | A | 1 | a0001c0002t0006g0332 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.2488-744G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382378 | |||||||
chr17:5382580 | C | T | 1 | a0001c0004t0022g0239 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2488-542C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382580 | |||||||
chr17:5382582 | T | C | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2488-540T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382582 | |||||||
chr17:5382589 | T | C | 2 | a0001c0004t0017g0290 a0001c0004t0017g0291 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.2488-533T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382589 | |||||||
chr17:5382608 | C | T | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-514C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382608 | |||||||
chr17:5382617 | T | C | 28 | a0001c0001t0004g0105 a0001c0001t0004g0110 a0001c0001t0004g0115 others(25): Show |
28 | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.2488-505T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382617 | |||||||
chr17:5382627 | T | C | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-495T>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382627 | |||||||
chr17:5382713 | C | T | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-409C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382713 | |||||||
chr17:5382844 | C | T | 2 | a0001c0002t0004g0124 a0001c0002t0004g0138 |
2 | HG03139.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2488-278C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382844 | |||||||
chr17:5382845 | G | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-277G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382845 | |||||||
chr17:5382864 | G | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0016 |
2 | HG02257.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.2488-258G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382864 | |||||||
chr17:5382887 | T | TCTGGC | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-230_2488-226d others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5382887 | ||||||
chr17:5382887 | T | TCTGGCCT others(3): Show |
1 | a0001c0004t0002g0256 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.2488-225_2488-216d others(12): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5382887 | ||||||
chr17:5382923 | T | TC | 12 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0050 others(9): Show |
12 | HG02027.hp1 HG02027.hp2 HG02074.hp1 others(9): Show |
intron_variant | MODIFIER | c.2488-192dupC | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | 5382923 | ||||||
chr17:5382926 | C | CAAAA | 5 | a0001c0004t0012g0231 a0001c0004t0017g0290 a0001c0004t0017g0291 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(2): Show |
intron_variant | MODIFIER | c.2488-196_2488-195i others(6): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382926 | |||||||
chr17:5382926 | C | CAAAAA | 4 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(1): Show |
4 | HG02886.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2488-196_2488-195i others(7): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382926 | |||||||
chr17:5382927 | C | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-195C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382927 | |||||||
chr17:5382928 | C | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-194C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382928 | |||||||
chr17:5382929 | C | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-193C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382929 | |||||||
chr17:5382930 | C | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-192C>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382930 | |||||||
chr17:5382931 | A | C | 168 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(165): Show |
169 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.2488-191A>C | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382931 | |||||||
chr17:5382948 | C | T | 1 | a0001c0001t0001g0316 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2488-174C>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382948 | |||||||
chr17:5382956 | G | A | 9 | a0001c0004t0012g0163 a0001c0004t0012g0164 a0001c0004t0012g0167 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.2488-166G>A | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382956 | |||||||
chr17:5382982 | A | T | 6 | a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 others(3): Show |
6 | HG00642.hp2 HG01123.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.2488-140A>T | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5382982 | |||||||
chr17:5383057 | A | G | 1 | a0001c0002t0023g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2488-65A>G | RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 17/17 | chr17 | 5383057 |