Item | Value |
---|---|
geneid | 2081 |
ensemblid | ENSG00000178607.17 |
hgncid | 3449 |
symbol | ERN1 |
name | endoplasmic reticulum to nucleus signaling 1 |
refseq_nuc | NM_001433.5 |
refseq_prot | NP_001424.3 |
ensembl_nuc | ENST00000433197.4 |
ensembl_prot | ENSP00000401445.2 |
mane_status | MANE Select |
chr | chr17 |
start | 64039142 |
end | 64130144 |
strand | - |
ver | v1.2 |
region | chr17:64039142-64130144 |
region5000 | chr17:64034142-64135144 |
regionname0 | ERN1_chr17_64039142_64130144 |
regionname5000 | ERN1_chr17_64034142_64135144 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 977 | 216 | 81 | 49 | 55 | 9 | 20 | 37 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0002 | 0/0 | 977 | 4 | 0 | 4 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0003 | 0/0 | 977 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0004 | 0/0 | 977 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0005 | 0/0 | 977 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0006 | 0/0 | 977 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0007 | 0/0 | 978 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(973): Show |
chr17 | 64034142 | 64135144 |
a0008 | 0/0 | 977 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0009 | 0/0 | 977 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0010 | 0/0 | 977 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
a0011 | 0/0 | 977 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | MPARR others(972): Show |
chr17 | 64034142 | 64135144 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 2931 | 90 | 17 | 22 | 35 | 5 | 10 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0002 | 0/0 | 2931 | 74 | 35 | 14 | 16 | 0 | 9 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0003 | 0/0 | 2931 | 17 | 14 | 3 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0004 | 1/0 | 2931 | 13 | 11 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0005 | 0/0 | 2931 | 7 | 1 | 2 | 4 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0006 | 0/0 | 2931 | 5 | 0 | 3 | 0 | 2 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0007 | 0/0 | 2931 | 4 | 1 | 1 | 0 | 1 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0009 | 0/0 | 2931 | 3 | 0 | 2 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0018 | 0/0 | 2931 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0021 | 0/0 | 2931 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0001c0022 | 0/0 | 2931 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0002c0008 | 0/0 | 2931 | 3 | 0 | 3 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0002c0017 | 0/0 | 2931 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0003c0010 | 0/0 | 2931 | 2 | 0 | 1 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0004c0013 | 0/0 | 2931 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0005c0012 | 0/0 | 2931 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0006c0019 | 0/0 | 2931 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0006c0020 | 0/0 | 2931 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0007c0011 | 0/0 | 2934 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2929): Show |
chr17 | 64034142 | 64135144 | ||
a0008c0023 | 0/0 | 2931 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0009c0015 | 0/0 | 2931 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0010c0016 | 0/0 | 2931 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 | ||
a0011c0014 | 0/0 | 2931 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | ATGCC others(2926): Show |
chr17 | 64034142 | 64135144 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 7895 | 2 | 0 | 0 | 2 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0002 | 0/1 | 7895 | 46 | 7 | 14 | 14 | 3 | 7 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0003 | 0/0 | 7895 | 26 | 4 | 5 | 13 | 2 | 2 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0009 | 0/0 | 7895 | 5 | 5 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0016 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0017 | 0/0 | 7895 | 2 | 0 | 0 | 2 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0020 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0026 | 0/0 | 7895 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0027 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0028 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0029 | 0/0 | 7895 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0030 | 0/0 | 7895 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0031 | 0/0 | 7895 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0001t0032 | 0/0 | 7895 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0001 | 0/0 | 7895 | 43 | 10 | 9 | 16 | 0 | 8 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0006 | 0/0 | 7894 | 9 | 7 | 2 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7889): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0007 | 0/0 | 7895 | 2 | 0 | 2 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0008 | 0/0 | 7895 | 4 | 4 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0010 | 0/0 | 7895 | 5 | 5 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0011 | 0/0 | 7895 | 3 | 2 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0012 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0013 | 0/0 | 7895 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0015 | 0/0 | 7894 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7889): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0021 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0024 | 0/0 | 7894 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7889): Show |
chr17 | 64034142 | 64135144 |
a0001c0002t0039 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0003t0004 | 0/0 | 7895 | 16 | 13 | 3 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0003t0019 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0004t0005 | 1/0 | 7895 | 10 | 8 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0004t0018 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0004t0035 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0004t0036 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0005t0001 | 0/0 | 7895 | 7 | 1 | 2 | 4 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0006t0007 | 0/0 | 7895 | 4 | 0 | 3 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0006t0025 | 0/0 | 7895 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0007t0001 | 0/0 | 7895 | 4 | 1 | 1 | 0 | 1 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0009t0002 | 0/0 | 7895 | 3 | 0 | 2 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0018t0004 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0021t0018 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0001c0022t0033 | 0/0 | 7897 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7892): Show |
chr17 | 64034142 | 64135144 |
a0002c0008t0003 | 0/0 | 7895 | 2 | 0 | 2 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0002c0008t0034 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0002c0017t0003 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0003c0010t0022 | 0/0 | 7894 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7889): Show |
chr17 | 64034142 | 64135144 |
a0003c0010t0023 | 0/0 | 7894 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7889): Show |
chr17 | 64034142 | 64135144 |
a0004c0013t0014 | 0/0 | 7895 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0005c0012t0037 | 0/0 | 7897 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7892): Show |
chr17 | 64034142 | 64135144 |
a0005c0012t0038 | 0/0 | 7897 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7892): Show |
chr17 | 64034142 | 64135144 |
a0006c0019t0008 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0006c0020t0003 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0007c0011t0012 | 0/0 | 7898 | 2 | 2 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7893): Show |
chr17 | 64034142 | 64135144 |
a0008c0023t0016 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0009c0015t0002 | 0/0 | 7895 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0010c0016t0002 | 0/0 | 7895 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
a0011c0014t0005 | 0/0 | 7895 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | GCTGC others(7890): Show |
chr17 | 64034142 | 64135144 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0010 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0002g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0161 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0209 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0003g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0009g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0009g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0009g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0009g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0009g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0016g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0017g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0017g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0020g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0026g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0027g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0028g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0029g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0030g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0031g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0001t0032g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0002 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0003 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0006g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0007g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0007g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0008g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0008g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0008g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0008g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0010g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0010g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0010g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0010g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0010g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0011g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0011g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0011g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0012g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0013g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0013g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0015g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0015g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0021g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0024g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0002t0039g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0004g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0003t0019g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0089 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0005g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0018g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0035g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0004t0036g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0005t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0006t0007g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0006t0007g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0006t0007g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0006t0007g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0006t0025g0112 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0007t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0007t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0007t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0007t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0009t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0009t0002g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0009t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0018t0004g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0021t0018g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0001c0022t0033g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0002c0008t0003g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0002c0008t0003g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0002c0008t0034g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0002c0017t0003g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0003c0010t0022g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0003c0010t0023g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0004c0013t0014g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0004c0013t0014g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0005c0012t0037g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0005c0012t0038g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0006c0019t0008g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0006c0020t0003g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0007c0011t0012g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0007c0011t0012g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0008c0023t0016g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0009c0015t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0010c0016t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
a0011c0014t0005g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00280 | hp1 | a0001 | c0001 | t0003 | g0209 | EUR | FIN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00280 | hp2 | a0001 | c0007 | t0001 | g0035 | EUR | FIN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00408 | hp1 | a0001 | c0001 | t0002 | g0059 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00408 | hp2 | a0001 | c0001 | t0003 | g0183 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00558 | hp1 | a0001 | c0001 | t0017 | g0086 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00558 | hp2 | a0001 | c0002 | t0001 | g0072 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00621 | hp1 | a0001 | c0005 | t0001 | g0115 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00621 | hp2 | a0001 | c0002 | t0001 | g0081 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00639 | hp1 | a0001 | c0001 | t0003 | g0201 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00639 | hp2 | a0001 | c0001 | t0003 | g0079 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00673 | hp1 | a0001 | c0001 | t0003 | g0185 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00673 | hp2 | a0001 | c0002 | t0001 | g0043 | EAS | CHS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00733 | hp1 | a0001 | c0001 | t0003 | g0053 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00733 | hp2 | a0001 | c0002 | t0006 | g0168 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00738 | hp1 | a0001 | c0001 | t0028 | g0160 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00738 | hp2 | a0001 | c0001 | t0002 | g0015 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00741 | hp1 | a0001 | c0006 | t0007 | g0119 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG00741 | hp2 | a0001 | c0001 | t0002 | g0039 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01069 | hp1 | a0003 | c0010 | t0022 | g0121 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01069 | hp2 | a0001 | c0003 | t0004 | g0004 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01071 | hp1 | a0001 | c0002 | t0001 | g0042 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01071 | hp2 | a0001 | c0003 | t0004 | g0004 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01074 | hp1 | a0002 | c0008 | t0003 | g0095 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01074 | hp2 | a0001 | c0001 | t0002 | g0192 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01081 | hp1 | a0001 | c0002 | t0007 | g0179 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01081 | hp2 | a0001 | c0001 | t0002 | g0107 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01099 | hp1 | a0001 | c0004 | t0005 | g0225 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01099 | hp2 | a0001 | c0001 | t0016 | g0076 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01106 | hp1 | a0001 | c0002 | t0001 | g0138 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01106 | hp2 | a0001 | c0001 | t0002 | g0056 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01109 | hp1 | a0001 | c0001 | t0002 | g0091 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01109 | hp2 | a0001 | c0002 | t0006 | g0172 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01167 | hp1 | a0001 | c0009 | t0002 | g0062 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01167 | hp2 | a0001 | c0001 | t0002 | g0211 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01192 | hp1 | a0001 | c0001 | t0002 | g0063 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01192 | hp2 | a0001 | c0002 | t0001 | g0067 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01243 | hp1 | a0001 | c0009 | t0002 | g0040 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01243 | hp2 | a0001 | c0003 | t0004 | g0158 | AMR | PUR | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01255 | hp1 | a0001 | c0001 | t0002 | g0025 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01255 | hp2 | a0001 | c0007 | t0001 | g0037 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01256 | hp1 | a0001 | c0001 | t0002 | g0093 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01256 | hp2 | a0001 | c0006 | t0007 | g0118 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01258 | hp1 | a0001 | c0006 | t0007 | g0117 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01258 | hp2 | a0001 | c0001 | t0002 | g0105 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01346 | hp1 | a0001 | c0002 | t0011 | g0137 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01346 | hp2 | a0008 | c0023 | t0016 | g0050 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01361 | hp1 | a0001 | c0001 | t0003 | g0189 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01361 | hp2 | a0002 | c0008 | t0034 | g0187 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01515 | hp1 | a0003 | c0010 | t0023 | g0120 | EUR | IBS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01515 | hp2 | a0001 | c0001 | t0002 | g0090 | EUR | IBS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01516 | hp1 | a0001 | c0009 | t0002 | g0061 | EUR | IBS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01516 | hp2 | a0001 | c0006 | t0007 | g0101 | EUR | IBS | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01884 | hp1 | a0004 | c0013 | t0014 | g0157 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01884 | hp2 | a0001 | c0002 | t0012 | g0134 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01891 | hp1 | a0001 | c0004 | t0005 | g0221 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01891 | hp2 | a0001 | c0004 | t0018 | g0162 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01928 | hp1 | a0001 | c0002 | t0001 | g0194 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01928 | hp2 | a0009 | c0015 | t0002 | g0057 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01934 | hp1 | a0001 | c0021 | t0018 | g0149 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01934 | hp2 | a0001 | c0005 | t0001 | g0074 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01975 | hp1 | a0002 | c0008 | t0003 | g0195 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01975 | hp2 | a0001 | c0002 | t0001 | g0064 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01978 | hp1 | a0001 | c0001 | t0002 | g0109 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01978 | hp2 | a0001 | c0002 | t0001 | g0065 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01981 | hp1 | a0001 | c0001 | t0020 | g0011 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01981 | hp2 | a0001 | c0002 | t0001 | g0125 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02027 | hp1 | a0001 | c0001 | t0002 | g0139 | EAS | KHV | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02027 | hp2 | a0001 | c0001 | t0031 | g0007 | EAS | KHV | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02055 | hp1 | a0001 | c0001 | t0002 | g0022 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02055 | hp2 | a0001 | c0002 | t0001 | g0167 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02135 | hp1 | a0001 | c0002 | t0001 | g0045 | EAS | KHV | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02135 | hp2 | a0001 | c0001 | t0030 | g0181 | EAS | KHV | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02145 | hp1 | a0001 | c0001 | t0009 | g0127 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02145 | hp2 | a0001 | c0007 | t0001 | g0036 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02148 | hp1 | a0001 | c0005 | t0001 | g0110 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02148 | hp2 | a0001 | c0002 | t0001 | g0002 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02155 | hp1 | a0001 | c0001 | t0003 | g0114 | EAS | CDX | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | CDX | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02257 | hp1 | a0001 | c0002 | t0001 | g0020 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02257 | hp2 | a0001 | c0001 | t0009 | g0126 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02258 | hp1 | a0001 | c0001 | t0002 | g0049 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02258 | hp2 | a0001 | c0003 | t0004 | g0207 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02273 | hp1 | a0001 | c0001 | t0003 | g0111 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02273 | hp2 | a0001 | c0002 | t0001 | g0068 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02280 | hp1 | a0001 | c0001 | t0002 | g0096 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02280 | hp2 | a0001 | c0002 | t0010 | g0215 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02300 | hp1 | a0002 | c0017 | t0003 | g0193 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02300 | hp2 | a0001 | c0001 | t0002 | g0106 | AMR | PEL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02451 | hp1 | a0001 | c0002 | t0001 | g0019 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02451 | hp2 | a0005 | c0012 | t0038 | g0228 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02523 | hp1 | a0001 | c0001 | t0032 | g0097 | EAS | KHV | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02523 | hp2 | a0001 | c0001 | t0003 | g0188 | EAS | KHV | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02572 | hp1 | a0001 | c0002 | t0001 | g0006 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02572 | hp2 | a0001 | c0003 | t0004 | g0151 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02622 | hp1 | a0001 | c0004 | t0005 | g0204 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02622 | hp2 | a0001 | c0001 | t0009 | g0132 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02630 | hp1 | a0001 | c0001 | t0003 | g0224 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02630 | hp2 | a0006 | c0020 | t0003 | g0023 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02647 | hp1 | a0001 | c0002 | t0006 | g0166 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02647 | hp2 | a0001 | c0003 | t0004 | g0148 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02717 | hp1 | a0001 | c0002 | t0001 | g0217 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02717 | hp2 | a0001 | c0003 | t0004 | g0142 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02723 | hp1 | a0001 | c0003 | t0004 | g0144 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02723 | hp2 | a0001 | c0002 | t0008 | g0178 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02738 | hp1 | a0001 | c0002 | t0001 | g0012 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02738 | hp2 | a0001 | c0001 | t0002 | g0008 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02809 | hp1 | a0001 | c0002 | t0011 | g0136 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02809 | hp2 | a0001 | c0002 | t0001 | g0024 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02818 | hp1 | a0001 | c0004 | t0035 | g0164 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02818 | hp2 | a0001 | c0002 | t0006 | g0027 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02886 | hp1 | a0001 | c0004 | t0005 | g0226 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02886 | hp2 | a0001 | c0001 | t0009 | g0128 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02895 | hp1 | a0001 | c0001 | t0003 | g0186 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02895 | hp2 | a0001 | c0002 | t0015 | g0220 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02896 | hp1 | a0006 | c0019 | t0008 | g0153 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02896 | hp2 | a0001 | c0004 | t0005 | g0223 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02897 | hp1 | a0001 | c0004 | t0005 | g0222 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02897 | hp2 | a0001 | c0002 | t0015 | g0219 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02922 | hp1 | a0001 | c0004 | t0005 | g0001 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02922 | hp2 | a0001 | c0018 | t0004 | g0143 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02965 | hp1 | a0001 | c0003 | t0019 | g0206 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02965 | hp2 | a0001 | c0002 | t0006 | g0177 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02970 | hp1 | a0001 | c0002 | t0006 | g0175 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02970 | hp2 | a0001 | c0002 | t0010 | g0213 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02976 | hp1 | a0001 | c0002 | t0001 | g0169 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02976 | hp2 | a0001 | c0002 | t0010 | g0216 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03098 | hp1 | a0001 | c0003 | t0004 | g0171 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03098 | hp2 | a0001 | c0002 | t0013 | g0205 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03130 | hp1 | a0001 | c0002 | t0008 | g0165 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03130 | hp2 | a0001 | c0003 | t0004 | g0146 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03195 | hp1 | a0001 | c0002 | t0001 | g0021 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03195 | hp2 | a0001 | c0003 | t0004 | g0208 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03209 | hp1 | a0001 | c0003 | t0004 | g0152 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03209 | hp2 | a0007 | c0011 | t0012 | g0123 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03225 | hp1 | a0001 | c0004 | t0005 | g0001 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03225 | hp2 | a0001 | c0002 | t0008 | g0176 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03453 | hp1 | a0001 | c0002 | t0010 | g0212 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03453 | hp2 | a0001 | c0003 | t0004 | g0147 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03490 | hp1 | a0001 | c0002 | t0024 | g0141 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03490 | hp2 | a0001 | c0002 | t0001 | g0003 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03492 | hp1 | a0001 | c0002 | t0001 | g0003 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03492 | hp2 | a0001 | c0001 | t0002 | g0075 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03516 | hp1 | a0001 | c0002 | t0013 | g0203 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03516 | hp2 | a0007 | c0011 | t0012 | g0018 | AFR | ESN | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03540 | hp1 | a0001 | c0003 | t0004 | g0145 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03540 | hp2 | a0001 | c0002 | t0021 | g0218 | AFR | GWD | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03704 | hp1 | a0001 | c0002 | t0001 | g0073 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03704 | hp2 | a0001 | c0001 | t0003 | g0198 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03710 | hp1 | a0001 | c0001 | t0002 | g0055 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03710 | hp2 | a0001 | c0002 | t0001 | g0047 | SAS | PJL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03834 | hp1 | a0001 | c0001 | t0002 | g0108 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03834 | hp2 | a0001 | c0001 | t0003 | g0202 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03927 | hp1 | a0001 | c0002 | t0001 | g0088 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03927 | hp2 | a0001 | c0001 | t0002 | g0094 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03942 | hp1 | a0001 | c0001 | t0002 | g0041 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03942 | hp2 | a0001 | c0002 | t0001 | g0051 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG04184 | hp1 | a0001 | c0007 | t0001 | g0038 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG04184 | hp2 | a0001 | c0001 | t0002 | g0058 | SAS | BEB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG04199 | hp1 | a0001 | c0002 | t0001 | g0048 | SAS | STU | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG04199 | hp2 | a0001 | c0001 | t0029 | g0054 | SAS | STU | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18522 | hp1 | a0001 | c0003 | t0004 | g0130 | AFR | YRI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18522 | hp2 | a0001 | c0001 | t0003 | g0150 | AFR | YRI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18747 | hp1 | a0001 | c0002 | t0001 | g0100 | EAS | CHB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18747 | hp2 | a0001 | c0001 | t0003 | g0199 | EAS | CHB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18906 | hp1 | a0001 | c0001 | t0009 | g0129 | AFR | YRI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18906 | hp2 | a0001 | c0003 | t0004 | g0159 | AFR | YRI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18941 | hp1 | a0001 | c0001 | t0003 | g0197 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18941 | hp2 | a0001 | c0001 | t0026 | g0113 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18954 | hp1 | a0001 | c0001 | t0017 | g0066 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18954 | hp2 | a0001 | c0001 | t0003 | g0196 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18957 | hp1 | a0001 | c0001 | t0002 | g0083 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18957 | hp2 | a0001 | c0002 | t0001 | g0031 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18965 | hp1 | a0001 | c0005 | t0001 | g0069 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18965 | hp2 | a0001 | c0001 | t0002 | g0084 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18967 | hp1 | a0001 | c0002 | t0001 | g0029 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18967 | hp2 | a0001 | c0001 | t0003 | g0052 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18971 | hp1 | a0001 | c0001 | t0002 | g0085 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18971 | hp2 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18973 | hp1 | a0001 | c0001 | t0002 | g0124 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18977 | hp1 | a0001 | c0001 | t0003 | g0190 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18977 | hp2 | a0001 | c0002 | t0001 | g0033 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18978 | hp1 | a0010 | c0016 | t0002 | g0009 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18978 | hp2 | a0001 | c0002 | t0001 | g0016 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18982 | hp1 | a0001 | c0001 | t0002 | g0032 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18982 | hp2 | a0001 | c0002 | t0001 | g0087 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18986 | hp1 | a0001 | c0001 | t0002 | g0078 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18986 | hp2 | a0001 | c0002 | t0001 | g0030 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18999 | hp1 | a0001 | c0001 | t0003 | g0184 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA18999 | hp2 | a0001 | c0001 | t0002 | g0080 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19007 | hp1 | a0001 | c0002 | t0001 | g0122 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19007 | hp2 | a0001 | c0001 | t0002 | g0077 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19009 | hp1 | a0001 | c0005 | t0001 | g0082 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19009 | hp2 | a0001 | c0001 | t0002 | g0099 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19011 | hp1 | a0001 | c0001 | t0003 | g0182 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19011 | hp2 | a0001 | c0005 | t0001 | g0046 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19030 | hp1 | a0001 | c0002 | t0039 | g0229 | AFR | LWK | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19030 | hp2 | a0004 | c0013 | t0014 | g0156 | AFR | LWK | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19043 | hp1 | a0001 | c0002 | t0001 | g0002 | AFR | LWK | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19043 | hp2 | a0011 | c0014 | t0005 | g0210 | AFR | LWK | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19065 | hp1 | a0001 | c0002 | t0001 | g0034 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19065 | hp2 | a0001 | c0001 | t0003 | g0104 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19066 | hp1 | a0001 | c0002 | t0001 | g0028 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19066 | hp2 | a0001 | c0001 | t0003 | g0191 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19084 | hp1 | a0001 | c0001 | t0002 | g0017 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19084 | hp2 | a0001 | c0002 | t0001 | g0013 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19091 | hp1 | a0001 | c0002 | t0001 | g0133 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19091 | hp2 | a0001 | c0001 | t0002 | g0116 | EAS | JPT | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19240 | hp1 | a0001 | c0002 | t0011 | g0135 | AFR | YRI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA19240 | hp2 | a0001 | c0001 | t0002 | g0026 | AFR | YRI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20129 | hp1 | a0001 | c0001 | t0002 | g0098 | AFR | ASW | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20129 | hp2 | a0001 | c0001 | t0003 | g0200 | AFR | ASW | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20752 | hp1 | a0001 | c0001 | t0002 | g0103 | EUR | TSI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20752 | hp2 | a0001 | c0001 | t0003 | g0161 | EUR | TSI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20805 | hp1 | a0001 | c0006 | t0025 | g0112 | EUR | TSI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20805 | hp2 | a0001 | c0001 | t0002 | g0092 | EUR | TSI | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01123 | hp1 | a0001 | c0001 | t0002 | g0140 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG01123 | hp2 | a0001 | c0002 | t0007 | g0180 | AMR | CLM | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02109 | hp1 | a0001 | c0002 | t0001 | g0155 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02109 | hp2 | a0001 | c0001 | t0002 | g0005 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02486 | hp1 | a0005 | c0012 | t0037 | g0227 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02486 | hp2 | a0001 | c0022 | t0033 | g0154 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02559 | hp1 | a0001 | c0002 | t0008 | g0170 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG02559 | hp2 | a0001 | c0002 | t0010 | g0214 | AFR | ACB | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03471 | hp1 | a0001 | c0002 | t0006 | g0174 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG03471 | hp2 | a0001 | c0002 | t0006 | g0131 | AFR | MSL | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG06807 | hp1 | a0001 | c0002 | t0006 | g0173 | AFR | USA | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
HG06807 | hp2 | a0001 | c0001 | t0002 | g0060 | AFR | USA | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20300 | hp1 | a0001 | c0005 | t0001 | g0014 | AFR | USA | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA20300 | hp2 | a0001 | c0004 | t0036 | g0163 | AFR | USA | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA21309 | hp1 | a0001 | c0004 | t0005 | g0001 | AFR | LWK | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
NA21309 | hp2 | a0001 | c0001 | t0027 | g0070 | AFR | LWK | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0010 | REF | REF | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
homoSapiens | grch38p0 | a0001 | c0004 | t0005 | g0089 | REF | REF | ERN1_chr17_64034142_64135144 | ERN1 | chr17 | 64034142 | 64135144 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:64043996 | C | T | 1 | a0006 | 2 | HG02630.hp2 HG02896.hp1 |
missense_variant | MODERATE | c.2926G>A | p.Ala976Thr | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3041/7895 | 2926/2934 | 976/977 | chr17 | 64043996 | |||
chr17:64044182 | G | T | 1 | a0002 | 4 | HG01074.hp1 HG01361.hp2 HG01975.hp1 others(1): Show |
missense_variant | MODERATE | c.2740C>A | p.Leu914Met | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2855/7895 | 2740/2934 | 914/977 | chr17 | 64044182 | |||
chr17:64053370 | T | C | 1 | a0008 | 1 | HG01346.hp2 | missense_variant&splice_region_variant | MODERATE | c.1955A>G | p.Tyr652Cys | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 16/22 | 2070/7895 | 1955/2934 | 652/977 | chr17 | 64053370 | |||
chr17:64055698 | G | C | 1 | a0005 | 2 | HG02451.hp2 HG02486.hp1 |
missense_variant | MODERATE | c.1649C>G | p.Pro550Arg | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/22 | 1764/7895 | 1649/2934 | 550/977 | chr17 | 64055698 | |||
chr17:64055860 | A | AGCT | 1 | a0007 | 2 | HG03209.hp2 HG03516.hp2 |
conservative_inframe_insertion | MODERATE | c.1484_1486dupAGC | p.Gln495dup | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/22 | 1601/7895 | 1486/2934 | 496/977 | chr17 | 64055860 | |||
chr17:64055926 | A | C | 1 | a0003 | 2 | HG01069.hp1 HG01515.hp1 |
missense_variant | MODERATE | c.1421T>G | p.Leu474Arg | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/22 | 1536/7895 | 1421/2934 | 474/977 | chr17 | 64055926 | |||
chr17:64060515 | C | T | 1 | a0010 | 1 | NA18978.hp1 | missense_variant | MODERATE | c.1160G>A | p.Arg387Gln | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/22 | 1275/7895 | 1160/2934 | 387/977 | chr17 | 64060515 | |||
chr17:64060533 | T | C | 1 | a0004 | 2 | HG01884.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.1142A>G | p.Asn381Ser | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/22 | 1257/7895 | 1142/2934 | 381/977 | chr17 | 64060533 | |||
chr17:64068199 | C | T | 1 | a0009 | 1 | HG01928.hp2 | missense_variant | MODERATE | c.571G>A | p.Val191Met | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/22 | 686/7895 | 571/2934 | 191/977 | chr17 | 64068199 | |||
chr17:64079669 | C | T | 1 | a0011 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.275G>A | p.Gly92Asp | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/22 | 390/7895 | 275/2934 | 92/977 | chr17 | 64079669 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:64044120 | T | C | 9 | a0001c0001 a0001c0009 a0001c0018 others(6): Show |
101 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(98): Show |
synonymous_variant | LOW | c.2802A>G | p.Thr934Thr | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2917/7895 | 2802/2934 | 934/977 | chr17 | 64044120 | |||
chr17:64047912 | A | G | 20 | a0001c0001 a0001c0002 a0001c0003 others(17): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
synonymous_variant | LOW | c.2475T>C | p.His825His | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/22 | 2590/7895 | 2475/2934 | 825/977 | chr17 | 64047912 | |||
chr17:64047918 | C | T | 1 | a0001c0009 | 3 | HG01167.hp1 HG01243.hp1 HG01516.hp1 |
synonymous_variant | LOW | c.2469G>A | p.Ala823Ala | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/22 | 2584/7895 | 2469/2934 | 823/977 | chr17 | 64047918 | |||
chr17:64049065 | T | C | 1 | a0001c0022 | 1 | HG02486.hp2 | synonymous_variant | LOW | c.2391A>G | p.Pro797Pro | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/22 | 2506/7895 | 2391/2934 | 797/977 | chr17 | 64049065 | |||
chr17:64049098 | G | A | 1 | a0005c0012 | 2 | HG02451.hp2 HG02486.hp1 |
synonymous_variant | LOW | c.2358C>T | p.Leu786Leu | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/22 | 2473/7895 | 2358/2934 | 786/977 | chr17 | 64049098 | |||
chr17:64049146 | C | T | 2 | a0001c0003 a0001c0018 |
18 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
synonymous_variant | LOW | c.2310G>A | p.Glu770Glu | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/22 | 2425/7895 | 2310/2934 | 770/977 | chr17 | 64049146 | |||
chr17:64054334 | C | T | 1 | a0002c0017 | 1 | HG02300.hp1 | synonymous_variant | LOW | c.1869G>A | p.Pro623Pro | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/22 | 1984/7895 | 1869/2934 | 623/977 | chr17 | 64054334 | |||
chr17:64054800 | C | T | 1 | a0001c0007 | 4 | HG00280.hp2 HG01255.hp2 HG02145.hp2 others(1): Show |
synonymous_variant | LOW | c.1701G>A | p.Gly567Gly | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 14/22 | 1816/7895 | 1701/2934 | 567/977 | chr17 | 64054800 | |||
chr17:64060570 | G | A | 1 | a0001c0009 | 3 | HG01167.hp1 HG01243.hp1 HG01516.hp1 |
synonymous_variant | LOW | c.1105C>T | p.Leu369Leu | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/22 | 1220/7895 | 1105/2934 | 369/977 | chr17 | 64060570 | |||
chr17:64064095 | A | G | 21 | a0001c0001 a0001c0002 a0001c0003 others(18): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
synonymous_variant | LOW | c.978T>C | p.Ile326Ile | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/22 | 1093/7895 | 978/2934 | 326/977 | chr17 | 64064095 | |||
chr17:64066862 | C | T | 1 | a0001c0005 | 7 | HG00621.hp1 HG01934.hp2 HG02148.hp1 others(4): Show |
synonymous_variant | LOW | c.651G>A | p.Leu217Leu | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/22 | 766/7895 | 651/2934 | 217/977 | chr17 | 64066862 | |||
chr17:64075218 | C | T | 2 | a0001c0006 a0003c0010 |
7 | HG00741.hp1 HG01069.hp1 HG01256.hp2 others(4): Show |
synonymous_variant | LOW | c.312G>A | p.Val104Val | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/22 | 427/7895 | 312/2934 | 104/977 | chr17 | 64075218 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:64039425 | G | T | 1 | a0003c0010t0022 | 1 | HG01069.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4563C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 4563 | chr17 | 64039425 | ||||||
chr17:64039454 | A | G | 1 | a0001c0001t0029 | 1 | HG04199.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4534T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 4534 | chr17 | 64039454 | ||||||
chr17:64039902 | C | T | 12 | a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 others(9): Show |
59 | HG00408.hp1 HG00558.hp1 HG00738.hp1 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*4086G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 4086 | chr17 | 64039902 | ||||||
chr17:64039905 | C | G | 1 | a0001c0001t0017 | 2 | HG00558.hp1 NA18954.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4083G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 4083 | chr17 | 64039905 | ||||||
chr17:64040001 | G | C | 1 | a0001c0002t0024 | 1 | HG03490.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3987C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3987 | chr17 | 64040001 | ||||||
chr17:64040058 | T | C | 4 | a0001c0002t0006 a0001c0002t0008 a0001c0002t0024 others(1): Show |
15 | HG00733.hp2 HG01109.hp2 HG02559.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*3930A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3930 | chr17 | 64040058 | ||||||
chr17:64040161 | T | C | 1 | a0001c0002t0024 | 1 | HG03490.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3827A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3827 | chr17 | 64040161 | ||||||
chr17:64040168 | A | G | 1 | a0001c0001t0009 | 5 | HG02145.hp1 HG02257.hp2 HG02622.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3820T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3820 | chr17 | 64040168 | ||||||
chr17:64040208 | G | A | 2 | a0001c0002t0013 a0001c0002t0039 |
3 | HG03098.hp2 HG03516.hp1 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3780C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3780 | chr17 | 64040208 | ||||||
chr17:64040373 | T | C | 9 | a0001c0001t0001 a0001c0001t0030 a0001c0001t0031 others(6): Show |
63 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(60): Show |
3_prime_UTR_variant | MODIFIER | c.*3615A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3615 | chr17 | 64040373 | ||||||
chr17:64040941 | C | T | 2 | a0001c0001t0016 a0008c0023t0016 |
2 | HG01099.hp2 HG01346.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3047G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3047 | chr17 | 64040941 | ||||||
chr17:64040972 | C | T | 1 | a0005c0012t0037 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3016G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 3016 | chr17 | 64040972 | ||||||
chr17:64041102 | C | T | 1 | a0001c0001t0028 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2886G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2886 | chr17 | 64041102 | ||||||
chr17:64041135 | G | A | 1 | a0004c0013t0014 | 2 | HG01884.hp1 NA19030.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2853C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2853 | chr17 | 64041135 | ||||||
chr17:64041222 | C | T | 1 | a0001c0002t0021 | 1 | HG03540.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2766G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2766 | chr17 | 64041222 | ||||||
chr17:64041399 | C | T | 1 | a0001c0022t0033 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2589G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2589 | chr17 | 64041399 | ||||||
chr17:64041518 | A | C | 11 | a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 others(8): Show |
29 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*2470T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2470 | chr17 | 64041518 | ||||||
chr17:64041544 | C | T | 1 | a0001c0022t0033 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2444G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2444 | chr17 | 64041544 | ||||||
chr17:64041782 | C | T | 9 | a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 others(6): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*2206G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2206 | chr17 | 64041782 | ||||||
chr17:64041791 | A | G | 1 | a0001c0001t0027 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2197T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2197 | chr17 | 64041791 | ||||||
chr17:64041797 | G | A | 10 | a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 others(7): Show |
26 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*2191C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2191 | chr17 | 64041797 | ||||||
chr17:64041811 | T | C | 4 | a0001c0002t0012 a0001c0022t0033 a0004c0013t0014 others(1): Show |
6 | HG01884.hp1 HG01884.hp2 HG02486.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2177A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2177 | chr17 | 64041811 | ||||||
chr17:64041931 | G | C | 1 | a0001c0001t0009 | 5 | HG02145.hp1 HG02257.hp2 HG02622.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2057C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2057 | chr17 | 64041931 | ||||||
chr17:64042029 | T | G | 48 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show |
213 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(210): Show |
3_prime_UTR_variant | MODIFIER | c.*1959A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1959 | chr17 | 64042029 | ||||||
chr17:64042195 | C | T | 30 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(27): Show |
123 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
3_prime_UTR_variant | MODIFIER | c.*1793G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1793 | chr17 | 64042195 | ||||||
chr17:64042241 | G | A | 44 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show |
207 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(204): Show |
3_prime_UTR_variant | MODIFIER | c.*1747C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1747 | chr17 | 64042241 | ||||||
chr17:64042452 | A | G | 1 | a0001c0001t0026 | 1 | NA18941.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1536T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1536 | chr17 | 64042452 | ||||||
chr17:64042500 | C | T | 46 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show |
211 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(208): Show |
3_prime_UTR_variant | MODIFIER | c.*1488G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1488 | chr17 | 64042500 | ||||||
chr17:64042685 | A | G | 24 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(21): Show |
116 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(113): Show |
3_prime_UTR_variant | MODIFIER | c.*1303T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1303 | chr17 | 64042685 | ||||||
chr17:64042689 | AT | A | 5 | a0001c0002t0006 a0001c0002t0015 a0001c0002t0024 others(2): Show |
14 | HG00733.hp2 HG01069.hp1 HG01109.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1298delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1298 | chr17 | 64042689 | ||||||
chr17:64042690 | T | A | 6 | a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(3): Show |
15 | HG00741.hp1 HG01081.hp1 HG01123.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1298A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1298 | chr17 | 64042690 | ||||||
chr17:64042789 | A | ACT | 3 | a0001c0022t0033 a0005c0012t0037 a0005c0012t0038 |
3 | HG02451.hp2 HG02486.hp1 HG02486.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1198_*1199insAG | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1198 | chr17 | 64042789 | ||||||
chr17:64042845 | G | A | 1 | a0001c0001t0032 | 1 | HG02523.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1143C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1143 | chr17 | 64042845 | ||||||
chr17:64042981 | A | T | 45 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show |
210 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
3_prime_UTR_variant | MODIFIER | c.*1007T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1007 | chr17 | 64042981 | ||||||
chr17:64042984 | C | T | 2 | a0001c0001t0016 a0008c0023t0016 |
2 | HG01099.hp2 HG01346.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1004G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 1004 | chr17 | 64042984 | ||||||
chr17:64043080 | G | A | 1 | a0001c0006t0025 | 1 | NA20805.hp1 | 3_prime_UTR_variant | MODIFIER | c.*908C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 908 | chr17 | 64043080 | ||||||
chr17:64043209 | C | T | 19 | a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(16): Show |
91 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(88): Show |
3_prime_UTR_variant | MODIFIER | c.*779G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 779 | chr17 | 64043209 | ||||||
chr17:64043243 | C | T | 3 | a0001c0003t0004 a0001c0003t0019 a0001c0018t0004 |
18 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*745G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 745 | chr17 | 64043243 | ||||||
chr17:64043328 | G | C | 2 | a0001c0002t0012 a0007c0011t0012 |
3 | HG01884.hp2 HG03209.hp2 HG03516.hp2 |
3_prime_UTR_variant | MODIFIER | c.*660C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 660 | chr17 | 64043328 | ||||||
chr17:64043373 | A | G | 49 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
3_prime_UTR_variant | MODIFIER | c.*615T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 615 | chr17 | 64043373 | ||||||
chr17:64043388 | A | G | 49 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
3_prime_UTR_variant | MODIFIER | c.*600T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 600 | chr17 | 64043388 | ||||||
chr17:64043483 | C | T | 48 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show |
213 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(210): Show |
3_prime_UTR_variant | MODIFIER | c.*505G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 505 | chr17 | 64043483 | ||||||
chr17:64043511 | G | A | 1 | a0002c0008t0034 | 1 | HG01361.hp2 | 3_prime_UTR_variant | MODIFIER | c.*477C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 477 | chr17 | 64043511 | ||||||
chr17:64043569 | C | T | 1 | a0001c0001t0020 | 1 | HG01981.hp1 | 3_prime_UTR_variant | MODIFIER | c.*419G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 419 | chr17 | 64043569 | ||||||
chr17:64043629 | C | T | 1 | a0001c0003t0019 | 1 | HG02965.hp1 | 3_prime_UTR_variant | MODIFIER | c.*359G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 359 | chr17 | 64043629 | ||||||
chr17:64043647 | T | C | 1 | a0001c0004t0036 | 1 | NA20300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*341A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 341 | chr17 | 64043647 | ||||||
chr17:64043986 | G | A | 4 | a0001c0004t0018 a0001c0004t0035 a0001c0004t0036 others(1): Show |
4 | HG01891.hp2 HG01934.hp1 HG02818.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 22/22 | 2 | chr17 | 64043986 | ||||||
chr17:64130100 | G | A | 2 | a0005c0012t0037 a0005c0012t0038 |
2 | HG02451.hp2 HG02486.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-71C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/22 | chr17 | 64130100 | |||||||
chr17:64130121 | C | A | 1 | a0001c0002t0039 | 1 | NA19030.hp1 | 5_prime_UTR_variant | MODIFIER | c.-92G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/22 | 92 | chr17 | 64130121 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:64044293 | C | A | 1 | a0001c0001t0003g0184 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.2722-93G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044293 | |||||||
chr17:64044329 | A | G | 5 | a0001c0002t0010g0212 a0001c0002t0010g0213 a0001c0002t0010g0214 others(2): Show |
5 | HG02280.hp2 HG02559.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.2722-129T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044329 | |||||||
chr17:64044427 | G | T | 65 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0002 others(62): Show |
67 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.2722-227C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044427 | |||||||
chr17:64044522 | T | C | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.2722-322A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044522 | |||||||
chr17:64044594 | C | T | 61 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(58): Show |
61 | HG00408.hp1 HG00558.hp1 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.2721+266G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044594 | |||||||
chr17:64044616 | C | A | 3 | a0001c0002t0012g0134 a0007c0011t0012g0018 a0007c0011t0012g0123 |
3 | HG01884.hp2 HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2721+244G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044616 | |||||||
chr17:64044643 | T | G | 5 | a0001c0003t0004g0004 a0001c0003t0004g0142 a0001c0003t0004g0207 others(2): Show |
6 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2721+217A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044643 | |||||||
chr17:64044737 | G | A | 3 | a0001c0002t0012g0134 a0007c0011t0012g0018 a0007c0011t0012g0123 |
3 | HG01884.hp2 HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2721+123C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044737 | |||||||
chr17:64044785 | A | G | 209 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(206): Show |
212 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(209): Show |
intron_variant | MODIFIER | c.2721+75T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044785 | |||||||
chr17:64044814 | T | A | 2 | a0001c0003t0004g0151 a0001c0003t0004g0152 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.2721+46A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 21/21 | chr17 | 64044814 | |||||||
chr17:64045091 | A | G | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2654-164T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 20/21 | chr17 | 64045091 | |||||||
chr17:64045144 | A | G | 1 | a0005c0012t0038g0228 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2653+215T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 20/21 | chr17 | 64045144 | |||||||
chr17:64045280 | G | A | 1 | a0001c0001t0002g0041 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2653+79C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 20/21 | chr17 | 64045280 | |||||||
chr17:64045317 | G | A | 202 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(199): Show |
205 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(202): Show |
intron_variant | MODIFIER | c.2653+42C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 20/21 | chr17 | 64045317 | |||||||
chr17:64045527 | T | C | 1 | a0001c0001t0002g0103 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2530-45A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64045527 | |||||||
chr17:64045662 | C | T | 213 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(210): Show |
216 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.2530-180G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64045662 | |||||||
chr17:64045733 | C | T | 6 | a0001c0005t0001g0014 a0001c0005t0001g0046 a0001c0005t0001g0069 others(3): Show |
6 | HG00621.hp1 HG01934.hp2 HG02148.hp1 others(3): Show |
intron_variant | MODIFIER | c.2530-251G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64045733 | |||||||
chr17:64045856 | C | T | 1 | a0001c0001t0002g0075 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.2530-374G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64045856 | |||||||
chr17:64045857 | G | A | 3 | a0001c0001t0002g0090 a0001c0002t0001g0016 a0001c0002t0001g0122 |
3 | HG01515.hp2 NA18978.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.2530-375C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64045857 | |||||||
chr17:64045961 | C | T | 213 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(210): Show |
216 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.2530-479G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64045961 | |||||||
chr17:64046360 | G | A | 1 | a0005c0012t0037g0227 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2530-878C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046360 | |||||||
chr17:64046403 | C | T | 3 | a0001c0001t0003g0186 a0001c0001t0003g0200 a0001c0001t0003g0201 |
3 | HG00639.hp1 HG02895.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2530-921G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046403 | |||||||
chr17:64046405 | T | C | 1 | a0001c0001t0031g0007 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.2530-923A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046405 | |||||||
chr17:64046553 | T | C | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2530-1071A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046553 | |||||||
chr17:64046622 | G | A | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2530-1140C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046622 | |||||||
chr17:64046762 | C | T | 1 | a0001c0002t0001g0073 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2529+1096G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046762 | |||||||
chr17:64046824 | C | T | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.2529+1034G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64046824 | |||||||
chr17:64047129 | C | T | 1 | a0001c0002t0001g0167 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2529+729G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047129 | |||||||
chr17:64047150 | G | A | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2529+708C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047150 | |||||||
chr17:64047223 | G | A | 210 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(207): Show |
213 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(210): Show |
intron_variant | MODIFIER | c.2529+635C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047223 | |||||||
chr17:64047571 | T | C | 1 | a0001c0002t0008g0178 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2529+287A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047571 | |||||||
chr17:64047595 | T | C | 5 | a0001c0022t0033g0154 a0005c0012t0037g0227 a0005c0012t0038g0228 others(2): Show |
5 | HG02451.hp2 HG02486.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.2529+263A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047595 | |||||||
chr17:64047603 | T | C | 1 | a0001c0001t0002g0085 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2529+255A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047603 | |||||||
chr17:64047638 | A | G | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2529+220T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047638 | |||||||
chr17:64047832 | T | G | 2 | a0001c0002t0007g0179 a0001c0002t0007g0180 |
2 | HG01081.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.2529+26A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047832 | |||||||
chr17:64047847 | G | T | 1 | a0001c0022t0033g0154 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2529+11C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047847 | |||||||
chr17:64047849 | C | T | 1 | a0001c0001t0028g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2529+9G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 19/21 | chr17 | 64047849 | |||||||
chr17:64048051 | T | C | 2 | a0001c0001t0002g0039 a0001c0001t0002g0058 |
2 | HG00741.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.2402-66A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048051 | |||||||
chr17:64048065 | C | T | 3 | a0001c0002t0006g0166 a0001c0002t0006g0172 a0001c0002t0006g0173 |
3 | HG01109.hp2 HG02647.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2402-80G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048065 | |||||||
chr17:64048143 | A | T | 220 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(217): Show |
223 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(220): Show |
intron_variant | MODIFIER | c.2402-158T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048143 | |||||||
chr17:64048480 | TATA | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.2402-498_2402-496d others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048480 | |||||||
chr17:64048592 | A | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.2401+463T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048592 | |||||||
chr17:64048729 | G | A | 4 | a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0001g0037 others(1): Show |
4 | HG00280.hp2 HG01255.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.2401+326C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048729 | |||||||
chr17:64048812 | A | G | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2401+243T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048812 | |||||||
chr17:64048813 | C | CCA | 95 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(92): Show |
95 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.2401+241_2401+242i others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048813 | |||||||
chr17:64048819 | T | C | 9 | a0001c0001t0003g0052 a0001c0001t0003g0104 a0001c0001t0003g0184 others(6): Show |
9 | HG01074.hp1 HG01361.hp2 HG01975.hp1 others(6): Show |
intron_variant | MODIFIER | c.2401+236A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048819 | |||||||
chr17:64048868 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.2401+187G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048868 | |||||||
chr17:64048869 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.2401+186C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048869 | |||||||
chr17:64048892 | C | T | 25 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(22): Show |
25 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.2401+163G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048892 | |||||||
chr17:64048979 | G | A | 3 | a0001c0001t0003g0186 a0001c0001t0003g0200 a0001c0001t0003g0201 |
3 | HG00639.hp1 HG02895.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2401+76C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 18/21 | chr17 | 64048979 | |||||||
chr17:64049255 | C | T | 1 | a0001c0001t0002g0107 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2254-53G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64049255 | |||||||
chr17:64049624 | C | T | 95 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(92): Show |
95 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.2254-422G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64049624 | |||||||
chr17:64050015 | G | T | 2 | a0001c0001t0002g0084 a0001c0001t0002g0116 |
2 | NA18965.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.2254-813C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64050015 | |||||||
chr17:64050065 | C | T | 17 | a0001c0003t0004g0004 a0001c0003t0004g0130 a0001c0003t0004g0142 others(14): Show |
18 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.2254-863G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64050065 | |||||||
chr17:64050146 | G | A | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2254-944C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64050146 | |||||||
chr17:64050372 | T | C | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2254-1170A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64050372 | |||||||
chr17:64050461 | G | A | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2254-1259C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64050461 | |||||||
chr17:64050801 | C | T | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2254-1599G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64050801 | |||||||
chr17:64051157 | G | GA | 93 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(90): Show |
93 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.2253+1622dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051157 | |||||||
chr17:64051371 | G | A | 1 | a0001c0002t0001g0003 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2253+1409C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051371 | |||||||
chr17:64051439 | A | G | 36 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(33): Show |
36 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(33): Show |
intron_variant | MODIFIER | c.2253+1341T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051439 | |||||||
chr17:64051549 | A | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2253+1231T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051549 | |||||||
chr17:64051589 | A | C | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.2253+1191T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051589 | |||||||
chr17:64051639 | T | G | 1 | a0001c0001t0002g0192 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2253+1141A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051639 | |||||||
chr17:64051650 | G | C | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2253+1130C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051650 | |||||||
chr17:64051718 | C | T | 1 | a0001c0002t0007g0179 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2253+1062G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051718 | |||||||
chr17:64051747 | TAAAACCC others(10): Show |
T | 4 | a0001c0002t0001g0006 a0001c0002t0001g0024 a0001c0003t0004g0145 others(1): Show |
4 | HG02572.hp1 HG02809.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2253+1016_2253+103 others(21): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64051747 | |||||||
chr17:64052152 | A | G | 2 | a0001c0003t0004g0151 a0001c0003t0004g0152 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.2253+628T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052152 | |||||||
chr17:64052180 | C | T | 211 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(208): Show |
214 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.2253+600G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052180 | |||||||
chr17:64052363 | G | C | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.2253+417C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052363 | |||||||
chr17:64052537 | CA | C | 213 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(210): Show |
216 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.2253+242delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052537 | |||||||
chr17:64052549 | A | C | 1 | a0001c0006t0025g0112 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2253+231T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052549 | |||||||
chr17:64052683 | G | A | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.2253+97C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052683 | |||||||
chr17:64052769 | C | T | 32 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(29): Show |
32 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.2253+11G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 17/21 | chr17 | 64052769 | |||||||
chr17:64053029 | G | GCCT | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.2054-53_2054-51dup others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 16/21 | chr17 | 64053029 | |||||||
chr17:64053118 | C | T | 1 | a0001c0006t0025g0112 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2054-139G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 16/21 | chr17 | 64053118 | |||||||
chr17:64053191 | A | C | 18 | a0001c0003t0004g0004 a0001c0003t0004g0130 a0001c0003t0004g0142 others(15): Show |
19 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(16): Show |
intron_variant | MODIFIER | c.2053+81T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 16/21 | chr17 | 64053191 | |||||||
chr17:64053577 | T | C | 112 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(109): Show |
113 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.1954-206A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64053577 | |||||||
chr17:64053864 | CT | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1953+385delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64053864 | |||||||
chr17:64053887 | T | C | 1 | a0001c0001t0028g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1953+363A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64053887 | |||||||
chr17:64053932 | A | G | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1953+318T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64053932 | |||||||
chr17:64053950 | T | A | 213 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(210): Show |
216 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.1953+300A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64053950 | |||||||
chr17:64053963 | G | A | 2 | a0004c0013t0014g0156 a0004c0013t0014g0157 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1953+287C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64053963 | |||||||
chr17:64054035 | G | C | 3 | a0001c0001t0002g0032 a0001c0001t0002g0083 a0010c0016t0002g0009 |
3 | NA18957.hp1 NA18978.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1953+215C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64054035 | |||||||
chr17:64054080 | C | T | 1 | a0001c0001t0002g0211 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1953+170G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64054080 | |||||||
chr17:64054085 | A | G | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.1953+165T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 15/21 | chr17 | 64054085 | |||||||
chr17:64054454 | G | A | 17 | a0001c0003t0004g0004 a0001c0003t0004g0130 a0001c0003t0004g0142 others(14): Show |
18 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.1764-15C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 14/21 | chr17 | 64054454 | |||||||
chr17:64054614 | C | T | 1 | a0005c0012t0038g0228 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1763+124G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 14/21 | chr17 | 64054614 | |||||||
chr17:64054916 | C | A | 1 | a0001c0001t0017g0066 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1673-88G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054916 | |||||||
chr17:64054919 | A | C | 1 | a0001c0001t0017g0066 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1673-91T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054919 | |||||||
chr17:64054923 | A | C | 1 | a0001c0001t0017g0066 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1673-95T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054923 | |||||||
chr17:64054924 | A | C | 1 | a0001c0001t0017g0066 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1673-96T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054924 | |||||||
chr17:64054925 | A | T | 1 | a0001c0001t0017g0066 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1673-97T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054925 | |||||||
chr17:64054949 | C | T | 211 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(208): Show |
214 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.1673-121G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054949 | |||||||
chr17:64054970 | G | A | 63 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0002 others(60): Show |
65 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.1673-142C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64054970 | |||||||
chr17:64055020 | T | C | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1673-192A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055020 | |||||||
chr17:64055168 | A | C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1673-340T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055168 | |||||||
chr17:64055190 | G | A | 1 | a0006c0020t0003g0023 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1673-362C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055190 | |||||||
chr17:64055201 | T | C | 1 | a0002c0008t0034g0187 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1673-373A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055201 | |||||||
chr17:64055210 | C | T | 1 | a0001c0007t0001g0035 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1673-382G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055210 | |||||||
chr17:64055318 | G | A | 211 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(208): Show |
214 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.1672+357C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055318 | |||||||
chr17:64055597 | C | CTTA | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1672+75_1672+77dup others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/21 | chr17 | 64055597 | |||||||
chr17:64056015 | G | A | 1 | a0011c0014t0005g0210 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1399-67C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056015 | |||||||
chr17:64056037 | G | T | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1399-89C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056037 | |||||||
chr17:64056063 | C | A | 2 | a0003c0010t0022g0121 a0003c0010t0023g0120 |
2 | HG01069.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1399-115G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056063 | |||||||
chr17:64056128 | T | A | 28 | a0001c0001t0003g0052 a0001c0001t0003g0079 a0001c0001t0003g0104 others(25): Show |
28 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.1399-180A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056128 | |||||||
chr17:64056198 | G | A | 1 | a0001c0001t0031g0007 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.1399-250C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056198 | |||||||
chr17:64056395 | G | A | 1 | a0001c0001t0003g0079 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1399-447C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056395 | |||||||
chr17:64056396 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1399-448G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056396 | |||||||
chr17:64056517 | G | A | 36 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(33): Show |
36 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(33): Show |
intron_variant | MODIFIER | c.1399-569C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056517 | |||||||
chr17:64056696 | G | A | 93 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(90): Show |
93 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.1399-748C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056696 | |||||||
chr17:64056756 | C | T | 1 | a0001c0001t0002g0025 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1399-808G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64056756 | |||||||
chr17:64057272 | A | G | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1398+530T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057272 | |||||||
chr17:64057273 | C | G | 2 | a0001c0001t0009g0126 a0001c0001t0009g0132 |
2 | HG02257.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1398+529G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057273 | |||||||
chr17:64057287 | C | T | 1 | a0001c0001t0003g0189 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1398+515G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057287 | |||||||
chr17:64057339 | A | G | 1 | a0001c0002t0006g0177 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1398+463T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057339 | |||||||
chr17:64057361 | TTTC | T | 211 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(208): Show |
214 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.1398+438_1398+440d others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057361 | |||||||
chr17:64057368 | T | C | 211 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(208): Show |
214 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.1398+434A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057368 | |||||||
chr17:64057383 | TCTTGCTC others(6): Show |
T | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.1398+406_1398+418d others(15): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057383 | |||||||
chr17:64057408 | G | A | 2 | a0004c0013t0014g0156 a0004c0013t0014g0157 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1398+394C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057408 | |||||||
chr17:64057469 | C | G | 1 | a0001c0001t0002g0090 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1398+333G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 12/21 | chr17 | 64057469 | |||||||
chr17:64058014 | G | A | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1207-21C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058014 | |||||||
chr17:64058085 | G | C | 1 | a0001c0001t0002g0096 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1207-92C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058085 | |||||||
chr17:64058120 | T | A | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.1207-127A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058120 | |||||||
chr17:64058264 | T | C | 1 | a0001c0002t0001g0021 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1207-271A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058264 | |||||||
chr17:64058300 | A | G | 4 | a0005c0012t0037g0227 a0005c0012t0038g0228 a0007c0011t0012g0018 others(1): Show |
4 | HG02451.hp2 HG02486.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1207-307T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058300 | |||||||
chr17:64058324 | A | G | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1207-331T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058324 | |||||||
chr17:64058326 | T | C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1207-333A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058326 | |||||||
chr17:64058481 | T | C | 17 | a0001c0003t0004g0004 a0001c0003t0004g0130 a0001c0003t0004g0142 others(14): Show |
18 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.1207-488A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058481 | |||||||
chr17:64058548 | C | G | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1207-555G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058548 | |||||||
chr17:64058558 | G | A | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1207-565C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058558 | |||||||
chr17:64058869 | T | C | 120 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0003g0161 others(117): Show |
123 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(120): Show |
intron_variant | MODIFIER | c.1207-876A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058869 | |||||||
chr17:64058884 | C | G | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1207-891G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058884 | |||||||
chr17:64058886 | C | T | 65 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0030g0181 others(62): Show |
67 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.1207-893G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058886 | |||||||
chr17:64058916 | T | C | 37 | a0001c0001t0003g0161 a0001c0001t0009g0126 a0001c0001t0009g0127 others(34): Show |
37 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.1207-923A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058916 | |||||||
chr17:64058927 | C | T | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.1207-934G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64058927 | |||||||
chr17:64059014 | G | A | 1 | a0006c0020t0003g0023 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1207-1021C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059014 | |||||||
chr17:64059027 | A | G | 3 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0133 |
3 | NA18977.hp2 NA19065.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1207-1034T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059027 | |||||||
chr17:64059108 | G | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1207-1115C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059108 | |||||||
chr17:64059136 | T | C | 2 | a0001c0001t0017g0066 a0001c0001t0017g0086 |
2 | HG00558.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.1207-1143A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059136 | |||||||
chr17:64059224 | G | A | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1207-1231C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059224 | |||||||
chr17:64059318 | G | A | 31 | a0001c0001t0003g0161 a0001c0001t0009g0126 a0001c0001t0009g0132 others(28): Show |
31 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.1206+1151C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059318 | |||||||
chr17:64059380 | G | A | 5 | a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0020 others(2): Show |
5 | HG02257.hp1 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1206+1089C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059380 | |||||||
chr17:64059509 | G | A | 1 | a0005c0012t0037g0227 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1206+960C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059509 | |||||||
chr17:64059729 | C | CCCTCT | 4 | a0001c0002t0001g0013 a0001c0002t0001g0064 a0001c0002t0001g0065 others(1): Show |
4 | HG01975.hp2 HG01978.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1206+735_1206+739d others(7): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059729 | |||||||
chr17:64059848 | AT | A | 25 | a0001c0001t0009g0126 a0001c0001t0009g0129 a0001c0001t0009g0132 others(22): Show |
25 | HG00558.hp2 HG01243.hp2 HG01975.hp2 others(22): Show |
intron_variant | MODIFIER | c.1206+620delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059848 | |||||||
chr17:64059848 | ATT | A | 67 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0003g0150 others(64): Show |
70 | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(67): Show |
intron_variant | MODIFIER | c.1206+619_1206+620d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059848 | |||||||
chr17:64059848 | ATTT | A | 31 | a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0003g0052 others(28): Show |
31 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.1206+618_1206+620d others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059848 | |||||||
chr17:64059848 | ATTTT | A | 81 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(78): Show |
81 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(78): Show |
intron_variant | MODIFIER | c.1206+617_1206+620d others(6): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059848 | |||||||
chr17:64059928 | C | T | 7 | a0001c0002t0006g0027 a0001c0002t0006g0168 a0001c0002t0008g0165 others(4): Show |
7 | HG00733.hp2 HG02559.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1206+541G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64059928 | |||||||
chr17:64060096 | C | T | 1 | a0001c0002t0010g0215 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1206+373G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64060096 | |||||||
chr17:64060172 | C | T | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1206+297G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64060172 | |||||||
chr17:64060188 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1206+281G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64060188 | |||||||
chr17:64060242 | T | C | 21 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0004 others(18): Show |
22 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.1206+227A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | 64060242 | |||||||
chr17:64060698 | T | C | 1 | a0001c0002t0001g0051 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1088-111A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64060698 | |||||||
chr17:64060712 | T | A | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1088-125A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64060712 | |||||||
chr17:64060727 | G | A | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1088-140C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64060727 | |||||||
chr17:64060821 | G | C | 1 | a0001c0001t0003g0189 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1088-234C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64060821 | |||||||
chr17:64060875 | G | A | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1088-288C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64060875 | |||||||
chr17:64060919 | T | C | 1 | a0001c0001t0002g0211 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1088-332A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64060919 | |||||||
chr17:64061061 | G | A | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1088-474C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64061061 | |||||||
chr17:64061129 | T | C | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.1088-542A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64061129 | |||||||
chr17:64061312 | G | A | 192 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(189): Show |
194 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(191): Show |
intron_variant | MODIFIER | c.1088-725C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64061312 | |||||||
chr17:64061538 | C | A | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1088-951G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64061538 | |||||||
chr17:64061680 | G | A | 1 | a0001c0001t0002g0041 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1088-1093C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64061680 | |||||||
chr17:64061756 | A | G | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1088-1169T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64061756 | |||||||
chr17:64062014 | G | A | 1 | a0001c0001t0003g0198 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1088-1427C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062014 | |||||||
chr17:64062206 | T | G | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1088-1619A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062206 | |||||||
chr17:64062227 | C | T | 2 | a0001c0002t0001g0002 a0001c0002t0001g0138 |
3 | HG01106.hp1 HG02148.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1088-1640G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062227 | |||||||
chr17:64062790 | C | T | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.1087+1196G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062790 | |||||||
chr17:64062813 | C | G | 1 | a0007c0011t0012g0018 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1087+1173G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062813 | |||||||
chr17:64062813 | C | T | 4 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(1): Show |
4 | HG01255.hp1 HG02055.hp1 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.1087+1173G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062813 | |||||||
chr17:64062833 | T | C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1087+1153A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062833 | |||||||
chr17:64062859 | A | G | 1 | a0001c0002t0010g0215 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1087+1127T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062859 | |||||||
chr17:64062963 | TACCTGGT others(3): Show |
T | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.1087+1013_1087+102 others(14): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64062963 | |||||||
chr17:64063032 | T | C | 10 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(7): Show |
10 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1087+954A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063032 | |||||||
chr17:64063168 | C | T | 6 | a0001c0002t0006g0166 a0001c0002t0006g0172 a0001c0002t0006g0173 others(3): Show |
6 | HG01109.hp2 HG02647.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1087+818G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063168 | |||||||
chr17:64063169 | G | A | 5 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(2): Show |
5 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1087+817C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063169 | |||||||
chr17:64063322 | C | T | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.1087+664G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063322 | |||||||
chr17:64063560 | T | A | 1 | a0001c0001t0003g0202 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1087+426A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063560 | |||||||
chr17:64063600 | C | A | 5 | a0001c0003t0004g0004 a0001c0003t0004g0142 a0001c0003t0004g0207 others(2): Show |
6 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1087+386G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063600 | |||||||
chr17:64063653 | A | G | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.1087+333T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063653 | |||||||
chr17:64063851 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1087+135G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | 64063851 | |||||||
chr17:64064336 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.922-185G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 9/21 | chr17 | 64064336 | |||||||
chr17:64064444 | A | T | 20 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0004 others(17): Show |
21 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.922-293T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 9/21 | chr17 | 64064444 | |||||||
chr17:64064495 | C | T | 1 | a0001c0001t0002g0139 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.922-344G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 9/21 | chr17 | 64064495 | |||||||
chr17:64064728 | G | A | 1 | a0001c0001t0003g0184 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.921+481C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 9/21 | chr17 | 64064728 | |||||||
chr17:64064979 | T | C | 220 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(217): Show |
223 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(220): Show |
intron_variant | MODIFIER | c.921+230A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 9/21 | chr17 | 64064979 | |||||||
chr17:64065186 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.921+23G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 9/21 | chr17 | 64065186 | |||||||
chr17:64065579 | C | T | 1 | a0005c0012t0037g0227 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.843-292G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64065579 | |||||||
chr17:64065592 | C | T | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.843-305G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64065592 | |||||||
chr17:64065620 | G | A | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.843-333C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64065620 | |||||||
chr17:64065640 | T | C | 20 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0004 others(17): Show |
21 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.843-353A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64065640 | |||||||
chr17:64066012 | C | T | 1 | a0001c0001t0002g0017 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.842+659G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066012 | |||||||
chr17:64066114 | G | T | 1 | a0001c0003t0004g0144 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.842+557C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066114 | |||||||
chr17:64066215 | G | T | 1 | a0001c0002t0001g0167 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.842+456C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066215 | |||||||
chr17:64066436 | C | G | 1 | a0010c0016t0002g0009 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.842+235G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066436 | |||||||
chr17:64066473 | T | G | 95 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(92): Show |
95 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.842+198A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066473 | |||||||
chr17:64066532 | A | G | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.842+139T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066532 | |||||||
chr17:64066593 | G | A | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.842+78C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 8/21 | chr17 | 64066593 | |||||||
chr17:64066984 | C | A | 62 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0002 others(59): Show |
64 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.581-52G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64066984 | |||||||
chr17:64067022 | T | G | 1 | a0001c0002t0001g0043 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.581-90A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067022 | |||||||
chr17:64067192 | A | C | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.581-260T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067192 | |||||||
chr17:64067221 | C | T | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.581-289G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067221 | |||||||
chr17:64067427 | CA | C | 205 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(202): Show |
208 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(205): Show |
intron_variant | MODIFIER | c.581-496delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067427 | |||||||
chr17:64067535 | G | C | 3 | a0001c0001t0002g0059 a0001c0001t0002g0124 a0001c0001t0002g0139 |
3 | HG00408.hp1 HG02027.hp1 NA18973.hp1 |
intron_variant | MODIFIER | c.581-603C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067535 | |||||||
chr17:64067552 | G | A | 9 | a0001c0002t0007g0179 a0001c0002t0007g0180 a0001c0006t0007g0101 others(6): Show |
9 | HG00741.hp1 HG01069.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.581-620C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067552 | |||||||
chr17:64067553 | A | G | 9 | a0001c0002t0007g0179 a0001c0002t0007g0180 a0001c0006t0007g0101 others(6): Show |
9 | HG00741.hp1 HG01069.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.581-621T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067553 | |||||||
chr17:64067561 | C | T | 18 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0004 others(15): Show |
19 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(16): Show |
intron_variant | MODIFIER | c.580+629G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067561 | |||||||
chr17:64067606 | C | CA | 122 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(119): Show |
123 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
intron_variant | MODIFIER | c.580+583dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067606 | |||||||
chr17:64067754 | G | C | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.580+436C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067754 | |||||||
chr17:64067929 | G | C | 3 | a0001c0002t0013g0203 a0001c0002t0013g0205 a0006c0019t0008g0153 |
3 | HG02896.hp1 HG03098.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.580+261C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067929 | |||||||
chr17:64067978 | C | T | 62 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0002 others(59): Show |
64 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.580+212G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 7/21 | chr17 | 64067978 | |||||||
chr17:64068312 | A | G | 95 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(92): Show |
95 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.479-21T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64068312 | |||||||
chr17:64068368 | A | G | 95 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(92): Show |
95 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.479-77T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64068368 | |||||||
chr17:64069003 | T | C | 13 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(10): Show |
13 | HG01243.hp2 HG01934.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.479-712A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069003 | |||||||
chr17:64069073 | G | T | 2 | a0001c0003t0004g0151 a0001c0003t0004g0152 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.479-782C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069073 | |||||||
chr17:64069120 | T | G | 2 | a0001c0001t0002g0060 a0001c0001t0002g0108 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.479-829A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069120 | |||||||
chr17:64069138 | G | T | 54 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0002 others(51): Show |
56 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.479-847C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069138 | |||||||
chr17:64069422 | G | A | 20 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0004 others(17): Show |
21 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.479-1131C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069422 | |||||||
chr17:64069444 | G | A | 65 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0002 others(62): Show |
67 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.479-1153C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069444 | |||||||
chr17:64069544 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.479-1253G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069544 | |||||||
chr17:64069692 | G | C | 1 | a0004c0013t0014g0156 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.479-1401C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069692 | |||||||
chr17:64069832 | G | C | 112 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(109): Show |
113 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.479-1541C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069832 | |||||||
chr17:64069944 | G | T | 2 | a0001c0002t0001g0045 a0001c0002t0001g0072 |
2 | HG00558.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.479-1653C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64069944 | |||||||
chr17:64070004 | G | A | 1 | a0001c0002t0001g0047 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.479-1713C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070004 | |||||||
chr17:64070046 | T | C | 1 | a0001c0002t0006g0173 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.479-1755A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070046 | |||||||
chr17:64070140 | G | A | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.478+1841C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070140 | |||||||
chr17:64070346 | A | T | 1 | a0001c0001t0003g0053 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.478+1635T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070346 | |||||||
chr17:64070363 | A | G | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.478+1618T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070363 | |||||||
chr17:64070464 | G | A | 1 | a0001c0001t0032g0097 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.478+1517C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070464 | |||||||
chr17:64070530 | C | T | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.478+1451G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070530 | |||||||
chr17:64070560 | T | G | 12 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.478+1421A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070560 | |||||||
chr17:64070705 | A | G | 23 | a0001c0001t0003g0161 a0001c0002t0006g0027 a0001c0002t0006g0166 others(20): Show |
23 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(20): Show |
intron_variant | MODIFIER | c.478+1276T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64070705 | |||||||
chr17:64071049 | T | C | 2 | a0001c0003t0004g0151 a0001c0003t0004g0152 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.478+932A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64071049 | |||||||
chr17:64071268 | A | G | 4 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(1): Show |
4 | HG01255.hp1 HG02055.hp1 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.478+713T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64071268 | |||||||
chr17:64071269 | A | T | 4 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(1): Show |
4 | HG01255.hp1 HG02055.hp1 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.478+712T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64071269 | |||||||
chr17:64071355 | C | T | 2 | a0001c0003t0004g0145 a0001c0003t0004g0147 |
2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.478+626G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64071355 | |||||||
chr17:64071616 | T | C | 16 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(13): Show |
16 | HG01243.hp2 HG01934.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.478+365A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 6/21 | chr17 | 64071616 | |||||||
chr17:64072203 | T | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.356-100A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64072203 | |||||||
chr17:64072445 | C | T | 1 | a0001c0002t0039g0229 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.356-342G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64072445 | |||||||
chr17:64072466 | A | T | 1 | a0001c0002t0006g0027 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.356-363T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64072466 | |||||||
chr17:64072927 | A | G | 1 | a0001c0002t0012g0134 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.356-824T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64072927 | |||||||
chr17:64073004 | A | AT | 35 | a0001c0001t0003g0161 a0001c0001t0009g0126 a0001c0001t0009g0127 others(32): Show |
35 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(32): Show |
intron_variant | MODIFIER | c.356-902dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073004 | |||||||
chr17:64073004 | AT | A | 91 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(88): Show |
91 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.356-902delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073004 | |||||||
chr17:64073028 | CAG | C | 4 | a0001c0001t0002g0063 a0001c0001t0002g0106 a0002c0017t0003g0193 others(1): Show |
4 | HG01192.hp1 HG01928.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.356-927_356-926del others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073028 | |||||||
chr17:64073272 | G | A | 1 | a0001c0001t0003g0196 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.356-1169C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073272 | |||||||
chr17:64073334 | A | AT | 2 | a0001c0001t0002g0055 a0001c0002t0001g0064 |
2 | HG01975.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.356-1232_356-1231i others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073334 | |||||||
chr17:64073334 | A | ATT | 76 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(73): Show |
76 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(73): Show |
intron_variant | MODIFIER | c.356-1232_356-1231i others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073334 | |||||||
chr17:64073334 | A | ATTT | 14 | a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0041 others(11): Show |
14 | HG00408.hp1 HG01192.hp1 HG01361.hp1 others(11): Show |
intron_variant | MODIFIER | c.356-1232_356-1231i others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073334 | |||||||
chr17:64073335 | A | AT | 21 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0001t0009g0128 others(18): Show |
21 | HG00558.hp2 HG01515.hp1 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.356-1233dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073335 | |||||||
chr17:64073335 | A | T | 94 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(91): Show |
94 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.356-1232T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073335 | |||||||
chr17:64073434 | C | G | 1 | a0001c0002t0039g0229 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.356-1331G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073434 | |||||||
chr17:64073551 | G | A | 2 | a0001c0001t0003g0052 a0001c0001t0003g0104 |
2 | NA18967.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.356-1448C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073551 | |||||||
chr17:64073664 | C | T | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.355+1511G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073664 | |||||||
chr17:64073704 | G | A | 2 | a0001c0001t0003g0188 a0001c0001t0030g0181 |
2 | HG02135.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.355+1471C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073704 | |||||||
chr17:64073764 | T | G | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.355+1411A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073764 | |||||||
chr17:64073771 | G | A | 1 | a0001c0001t0002g0015 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.355+1404C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073771 | |||||||
chr17:64073881 | C | A | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.355+1294G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64073881 | |||||||
chr17:64074030 | G | A | 1 | a0001c0001t0002g0124 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.355+1145C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64074030 | |||||||
chr17:64074205 | G | A | 1 | a0001c0001t0002g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.355+970C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64074205 | |||||||
chr17:64074632 | C | T | 2 | a0001c0004t0035g0164 a0001c0004t0036g0163 |
2 | HG02818.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.355+543G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64074632 | |||||||
chr17:64074744 | C | T | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.355+431G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64074744 | |||||||
chr17:64074903 | T | C | 2 | a0004c0013t0014g0156 a0004c0013t0014g0157 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.355+272A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64074903 | |||||||
chr17:64075058 | C | T | 3 | a0001c0009t0002g0040 a0001c0009t0002g0061 a0001c0009t0002g0062 |
3 | HG01167.hp1 HG01243.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.355+117G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 5/21 | chr17 | 64075058 | |||||||
chr17:64075251 | T | TA | 14 | a0001c0001t0002g0055 a0001c0001t0009g0126 a0001c0001t0009g0127 others(11): Show |
14 | HG01346.hp1 HG01516.hp1 HG01884.hp2 others(11): Show |
splice_region_variant&intron_variant | LOW | c.283-5dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075251 | |||||||
chr17:64075251 | T | TAA | 88 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(85): Show |
88 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(85): Show |
splice_region_variant&intron_variant | LOW | c.283-6_283-5dupTT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075251 | |||||||
chr17:64075260 | A | AAAAG | 16 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(13): Show |
16 | HG01243.hp2 HG01934.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.283-14_283-13insCT others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075260 | |||||||
chr17:64075414 | G | A | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.283-167C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075414 | |||||||
chr17:64075427 | C | T | 1 | a0001c0004t0005g0225 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.283-180G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075427 | |||||||
chr17:64075708 | G | A | 1 | a0001c0001t0002g0098 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.283-461C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075708 | |||||||
chr17:64075871 | G | C | 73 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0030g0181 others(70): Show |
76 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.283-624C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075871 | |||||||
chr17:64075942 | G | A | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG00639.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.283-695C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64075942 | |||||||
chr17:64076158 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.283-911G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076158 | |||||||
chr17:64076235 | T | C | 1 | a0001c0001t0003g0197 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.283-988A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076235 | |||||||
chr17:64076552 | C | G | 5 | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0102 others(2): Show |
5 | HG01123.hp1 NA18965.hp2 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.283-1305G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076552 | |||||||
chr17:64076591 | T | C | 1 | a0001c0002t0001g0217 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.283-1344A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076591 | |||||||
chr17:64076604 | CT | C | 213 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(210): Show |
216 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.283-1358delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076604 | |||||||
chr17:64076608 | T | C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.283-1361A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076608 | |||||||
chr17:64076614 | T | C | 15 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(12): Show |
15 | HG01243.hp2 HG02572.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.283-1367A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076614 | |||||||
chr17:64076704 | A | G | 15 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(12): Show |
15 | HG01243.hp2 HG02572.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.283-1457T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076704 | |||||||
chr17:64076744 | C | T | 1 | a0001c0022t0033g0154 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.283-1497G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076744 | |||||||
chr17:64076882 | G | A | 3 | a0001c0004t0018g0162 a0001c0004t0035g0164 a0001c0004t0036g0163 |
3 | HG01891.hp2 HG02818.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.283-1635C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64076882 | |||||||
chr17:64077104 | C | T | 1 | a0001c0001t0003g0190 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.283-1857G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077104 | |||||||
chr17:64077147 | A | G | 215 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(212): Show |
218 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.283-1900T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077147 | |||||||
chr17:64077171 | G | T | 1 | a0001c0003t0004g0142 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.283-1924C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077171 | |||||||
chr17:64077427 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.283-2180G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077427 | |||||||
chr17:64077459 | T | C | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.282+2203A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077459 | |||||||
chr17:64077567 | G | A | 7 | a0001c0002t0013g0203 a0001c0002t0013g0205 a0001c0003t0004g0004 others(4): Show |
8 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.282+2095C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077567 | |||||||
chr17:64077573 | G | C | 1 | a0001c0001t0003g0201 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.282+2089C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077573 | |||||||
chr17:64077723 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.282+1939G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077723 | |||||||
chr17:64077749 | CT | C | 70 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0055 others(67): Show |
73 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.282+1912delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077749 | |||||||
chr17:64077784 | T | C | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.282+1878A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077784 | |||||||
chr17:64077785 | G | A | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.282+1877C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077785 | |||||||
chr17:64077800 | T | C | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.282+1862A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077800 | |||||||
chr17:64077806 | C | T | 3 | a0001c0002t0010g0213 a0001c0002t0010g0214 a0001c0002t0010g0215 |
3 | HG02280.hp2 HG02559.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.282+1856G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077806 | |||||||
chr17:64077808 | T | G | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.282+1854A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64077808 | |||||||
chr17:64078135 | C | G | 1 | a0001c0003t0004g0144 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.282+1527G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64078135 | |||||||
chr17:64078297 | A | C | 90 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(87): Show |
90 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.282+1365T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64078297 | |||||||
chr17:64078300 | T | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.282+1362A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64078300 | |||||||
chr17:64078620 | T | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.282+1042A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64078620 | |||||||
chr17:64078661 | T | G | 216 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(213): Show |
219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.282+1001A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64078661 | |||||||
chr17:64078693 | C | T | 1 | a0001c0005t0001g0082 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.282+969G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64078693 | |||||||
chr17:64079302 | C | T | 3 | a0001c0002t0021g0218 a0007c0011t0012g0018 a0007c0011t0012g0123 |
3 | HG03209.hp2 HG03516.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.282+360G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64079302 | |||||||
chr17:64079524 | T | A | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.282+138A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64079524 | |||||||
chr17:64079563 | A | C | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.282+99T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64079563 | |||||||
chr17:64079573 | T | C | 220 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(217): Show |
223 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(220): Show |
intron_variant | MODIFIER | c.282+89A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64079573 | |||||||
chr17:64079644 | G | A | 22 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(19): Show |
22 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(19): Show |
intron_variant | MODIFIER | c.282+18C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 4/21 | chr17 | 64079644 | |||||||
chr17:64079782 | T | C | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.210-48A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64079782 | |||||||
chr17:64079911 | T | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.210-177A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64079911 | |||||||
chr17:64079943 | T | C | 1 | a0001c0002t0001g0167 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.210-209A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64079943 | |||||||
chr17:64079947 | T | C | 104 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(101): Show |
104 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(101): Show |
intron_variant | MODIFIER | c.210-213A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64079947 | |||||||
chr17:64080053 | C | T | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.210-319G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64080053 | |||||||
chr17:64080086 | T | A | 1 | a0001c0002t0001g0167 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.210-352A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64080086 | |||||||
chr17:64080402 | A | G | 220 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(217): Show |
223 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(220): Show |
intron_variant | MODIFIER | c.209+373T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64080402 | |||||||
chr17:64080446 | G | C | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.209+329C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64080446 | |||||||
chr17:64080652 | T | C | 93 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(90): Show |
93 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.209+123A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 3/21 | chr17 | 64080652 | |||||||
chr17:64080918 | T | C | 93 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(90): Show |
93 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.176-110A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64080918 | |||||||
chr17:64080940 | C | T | 88 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(85): Show |
88 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.176-132G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64080940 | |||||||
chr17:64080959 | T | C | 89 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(86): Show |
89 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(86): Show |
intron_variant | MODIFIER | c.176-151A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64080959 | |||||||
chr17:64080995 | T | C | 1 | a0001c0002t0006g0131 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.176-187A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64080995 | |||||||
chr17:64081146 | T | A | 1 | a0001c0003t0004g0142 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.176-338A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081146 | |||||||
chr17:64081225 | A | G | 1 | a0001c0002t0006g0174 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.176-417T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081225 | |||||||
chr17:64081263 | A | G | 106 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(103): Show |
106 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(103): Show |
intron_variant | MODIFIER | c.176-455T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081263 | |||||||
chr17:64081356 | T | C | 89 | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 others(86): Show |
89 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(86): Show |
intron_variant | MODIFIER | c.176-548A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081356 | |||||||
chr17:64081586 | A | G | 1 | a0001c0005t0001g0082 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.176-778T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081586 | |||||||
chr17:64081607 | T | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.176-799A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081607 | |||||||
chr17:64081654 | C | G | 1 | a0001c0002t0001g0073 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.176-846G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081654 | |||||||
chr17:64081706 | A | G | 2 | a0001c0002t0001g0045 a0001c0002t0001g0072 |
2 | HG00558.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.176-898T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64081706 | |||||||
chr17:64082078 | G | A | 1 | a0001c0001t0002g0059 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.176-1270C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082078 | |||||||
chr17:64082137 | T | A | 24 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.176-1329A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082137 | |||||||
chr17:64082248 | C | T | 138 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(135): Show |
143 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(140): Show |
intron_variant | MODIFIER | c.176-1440G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082248 | |||||||
chr17:64082306 | C | T | 1 | a0001c0002t0008g0176 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.176-1498G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082306 | |||||||
chr17:64082603 | G | A | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.176-1795C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082603 | |||||||
chr17:64082657 | G | A | 5 | a0001c0002t0001g0013 a0001c0002t0001g0045 a0001c0002t0001g0065 others(2): Show |
5 | HG00558.hp2 HG01978.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.176-1849C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082657 | |||||||
chr17:64082684 | T | C | 138 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(135): Show |
143 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(140): Show |
intron_variant | MODIFIER | c.176-1876A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082684 | |||||||
chr17:64082771 | G | C | 71 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(68): Show |
74 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.176-1963C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082771 | |||||||
chr17:64082850 | A | AT | 11 | a0001c0004t0005g0001 a0001c0004t0005g0204 a0001c0004t0005g0221 others(8): Show |
13 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.176-2043dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082850 | |||||||
chr17:64082850 | A | ATT | 102 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(99): Show |
105 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.176-2044_176-2043d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082850 | |||||||
chr17:64082851 | T | TTA | 25 | a0001c0001t0003g0161 a0001c0002t0006g0027 a0001c0002t0006g0166 others(22): Show |
25 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.176-2044_176-2043i others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64082851 | |||||||
chr17:64083022 | C | A | 123 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(120): Show |
128 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.176-2214G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083022 | |||||||
chr17:64083046 | A | G | 15 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(12): Show |
15 | HG01243.hp2 HG01934.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.176-2238T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083046 | |||||||
chr17:64083079 | A | G | 138 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(135): Show |
143 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(140): Show |
intron_variant | MODIFIER | c.176-2271T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083079 | |||||||
chr17:64083087 | A | C | 2 | a0001c0002t0001g0064 a0002c0008t0003g0195 |
2 | HG01975.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.176-2279T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083087 | |||||||
chr17:64083170 | T | C | 1 | a0001c0001t0002g0116 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.176-2362A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083170 | |||||||
chr17:64083173 | A | G | 4 | a0001c0004t0018g0162 a0001c0004t0035g0164 a0001c0004t0036g0163 others(1): Show |
4 | HG01891.hp2 HG02818.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.176-2365T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083173 | |||||||
chr17:64083294 | A | C | 13 | a0001c0002t0015g0219 a0001c0002t0015g0220 a0001c0004t0005g0001 others(10): Show |
15 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.176-2486T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083294 | |||||||
chr17:64083332 | G | A | 15 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0003t0004g0130 others(12): Show |
15 | HG01243.hp2 HG01934.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.176-2524C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083332 | |||||||
chr17:64083467 | G | A | 137 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(134): Show |
142 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(139): Show |
intron_variant | MODIFIER | c.176-2659C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083467 | |||||||
chr17:64083489 | T | G | 2 | a0001c0002t0007g0179 a0001c0002t0007g0180 |
2 | HG01081.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.176-2681A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083489 | |||||||
chr17:64083508 | A | G | 2 | a0001c0002t0007g0179 a0001c0002t0007g0180 |
2 | HG01081.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.176-2700T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083508 | |||||||
chr17:64083613 | C | T | 1 | a0001c0001t0002g0039 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.176-2805G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083613 | |||||||
chr17:64083672 | C | G | 137 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(134): Show |
142 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(139): Show |
intron_variant | MODIFIER | c.176-2864G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083672 | |||||||
chr17:64083747 | G | A | 1 | a0001c0005t0001g0014 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.176-2939C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64083747 | |||||||
chr17:64084086 | C | T | 1 | a0001c0001t0031g0007 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.176-3278G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084086 | |||||||
chr17:64084087 | G | A | 6 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0042 others(3): Show |
6 | HG01071.hp1 HG01192.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.176-3279C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084087 | |||||||
chr17:64084094 | T | C | 224 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(221): Show |
229 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(226): Show |
intron_variant | MODIFIER | c.176-3286A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084094 | |||||||
chr17:64084141 | G | C | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.176-3333C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084141 | |||||||
chr17:64084183 | A | G | 25 | a0001c0002t0001g0167 a0001c0002t0006g0027 a0001c0002t0006g0166 others(22): Show |
25 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.176-3375T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084183 | |||||||
chr17:64084371 | A | T | 134 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(131): Show |
138 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(135): Show |
intron_variant | MODIFIER | c.176-3563T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084371 | |||||||
chr17:64084393 | C | T | 1 | a0001c0001t0002g0039 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.176-3585G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084393 | |||||||
chr17:64084530 | GA | G | 135 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(132): Show |
139 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(136): Show |
intron_variant | MODIFIER | c.176-3723delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084530 | |||||||
chr17:64084573 | A | G | 3 | a0001c0001t0002g0056 a0001c0001t0002g0093 a0002c0008t0034g0187 |
3 | HG01106.hp2 HG01256.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.176-3765T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084573 | |||||||
chr17:64084599 | A | G | 25 | a0001c0002t0001g0167 a0001c0002t0006g0027 a0001c0002t0006g0166 others(22): Show |
25 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.176-3791T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084599 | |||||||
chr17:64084661 | T | A | 1 | a0001c0002t0001g0217 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.176-3853A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64084661 | |||||||
chr17:64085044 | A | G | 138 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(135): Show |
142 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(139): Show |
intron_variant | MODIFIER | c.176-4236T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085044 | |||||||
chr17:64085135 | C | T | 3 | a0001c0001t0003g0186 a0001c0001t0003g0200 a0001c0001t0003g0201 |
3 | HG00639.hp1 HG02895.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.176-4327G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085135 | |||||||
chr17:64085251 | G | A | 134 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(131): Show |
138 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(135): Show |
intron_variant | MODIFIER | c.176-4443C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085251 | |||||||
chr17:64085369 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.176-4561C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085369 | |||||||
chr17:64085369 | G | T | 23 | a0001c0002t0006g0027 a0001c0002t0006g0166 a0001c0002t0006g0168 others(20): Show |
23 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(20): Show |
intron_variant | MODIFIER | c.176-4561C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085369 | |||||||
chr17:64085391 | A | G | 1 | a0001c0001t0003g0198 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.176-4583T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085391 | |||||||
chr17:64085417 | A | G | 121 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(118): Show |
125 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(122): Show |
intron_variant | MODIFIER | c.176-4609T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085417 | |||||||
chr17:64085469 | C | T | 10 | a0001c0004t0005g0001 a0001c0004t0005g0204 a0001c0004t0005g0221 others(7): Show |
12 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.176-4661G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085469 | |||||||
chr17:64085654 | C | G | 4 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(1): Show |
4 | HG01255.hp1 HG02055.hp1 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.176-4846G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085654 | |||||||
chr17:64085655 | C | T | 130 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(127): Show |
134 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(131): Show |
intron_variant | MODIFIER | c.176-4847G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085655 | |||||||
chr17:64085771 | G | C | 130 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(127): Show |
134 | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(131): Show |
intron_variant | MODIFIER | c.176-4963C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64085771 | |||||||
chr17:64086005 | T | A | 1 | a0001c0001t0002g0093 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.176-5197A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086005 | |||||||
chr17:64086031 | T | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.176-5223A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086031 | |||||||
chr17:64086344 | C | G | 3 | a0001c0009t0002g0040 a0001c0009t0002g0061 a0001c0009t0002g0062 |
3 | HG01167.hp1 HG01243.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.176-5536G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086344 | |||||||
chr17:64086363 | C | A | 1 | a0009c0015t0002g0057 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.176-5555G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086363 | |||||||
chr17:64086363 | C | G | 2 | a0001c0001t0002g0063 a0001c0001t0002g0106 |
2 | HG01192.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.176-5555G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086363 | |||||||
chr17:64086498 | A | G | 5 | a0001c0002t0008g0165 a0001c0002t0008g0170 a0001c0002t0008g0176 others(2): Show |
5 | HG02559.hp1 HG02723.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.176-5690T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086498 | |||||||
chr17:64086514 | A | G | 1 | a0001c0001t0003g0161 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.176-5706T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086514 | |||||||
chr17:64086591 | G | C | 12 | a0001c0002t0001g0021 a0001c0002t0001g0155 a0001c0002t0013g0203 others(9): Show |
13 | HG01069.hp2 HG01071.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.176-5783C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086591 | |||||||
chr17:64086637 | C | CT | 133 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0017 others(130): Show |
135 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.176-5830dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086637 | C | CTT | 35 | a0001c0001t0002g0008 a0001c0001t0002g0063 a0001c0001t0002g0099 others(32): Show |
35 | HG00733.hp2 HG01123.hp2 HG01192.hp1 others(32): Show |
intron_variant | MODIFIER | c.176-5831_176-5830d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086637 | C | CTTT | 6 | a0001c0003t0004g0144 a0001c0003t0004g0158 a0001c0003t0004g0159 others(3): Show |
6 | HG01243.hp2 HG01884.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.176-5832_176-5830d others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086637 | C | CTTTTT | 13 | a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0003g0150 others(10): Show |
14 | HG01106.hp1 HG02109.hp2 HG02148.hp2 others(11): Show |
intron_variant | MODIFIER | c.176-5834_176-5830d others(7): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086637 | C | CTTTTTT | 5 | a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0002t0001g0020 others(2): Show |
5 | HG01255.hp1 HG02055.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.176-5835_176-5830d others(8): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086637 | CTTTTTTT others(2): Show |
C | 13 | a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0004t0005g0001 others(10): Show |
15 | HG00639.hp1 HG01099.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.176-5838_176-5830d others(11): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086637 | CTTTTTTT others(3): Show |
C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.176-5839_176-5830d others(12): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086637 | |||||||
chr17:64086677 | C | T | 1 | a0001c0001t0003g0150 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.176-5869G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64086677 | |||||||
chr17:64087472 | C | A | 1 | a0001c0001t0002g0084 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.176-6664G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087472 | |||||||
chr17:64087611 | T | C | 10 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(7): Show |
11 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.176-6803A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087611 | |||||||
chr17:64087788 | G | GAAGAGC | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.176-6981_176-6980i others(8): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087788 | |||||||
chr17:64087789 | T | A | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.176-6981A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087789 | |||||||
chr17:64087819 | G | C | 1 | a0001c0002t0001g0048 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.176-7011C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087819 | |||||||
chr17:64087923 | G | A | 11 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(8): Show |
11 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.176-7115C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087923 | |||||||
chr17:64087990 | C | T | 1 | a0001c0003t0004g0142 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.176-7182G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64087990 | |||||||
chr17:64088005 | T | C | 2 | a0001c0001t0002g0060 a0001c0001t0002g0108 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.176-7197A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64088005 | |||||||
chr17:64088028 | T | C | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.176-7220A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64088028 | |||||||
chr17:64088597 | A | G | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.176-7789T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64088597 | |||||||
chr17:64088705 | C | T | 1 | a0001c0001t0002g0025 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.176-7897G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64088705 | |||||||
chr17:64088753 | G | A | 2 | a0001c0001t0002g0060 a0001c0001t0002g0108 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.176-7945C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64088753 | |||||||
chr17:64088988 | T | C | 9 | a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0146 others(6): Show |
9 | HG01243.hp2 HG01934.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.176-8180A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64088988 | |||||||
chr17:64089318 | C | CA | 43 | a0001c0001t0001g0044 a0001c0001t0002g0022 a0001c0001t0002g0099 others(40): Show |
43 | HG01071.hp1 HG01167.hp2 HG01192.hp2 others(40): Show |
intron_variant | MODIFIER | c.176-8511dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089318 | |||||||
chr17:64089318 | CA | C | 24 | a0001c0001t0002g0093 a0001c0001t0003g0111 a0001c0001t0027g0070 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.176-8511delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089318 | |||||||
chr17:64089318 | CAAAAAAA others(4): Show |
C | 11 | a0001c0002t0006g0027 a0001c0004t0005g0001 a0001c0004t0005g0204 others(8): Show |
13 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.176-8521_176-8511d others(13): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089318 | |||||||
chr17:64089318 | CAAAAAAA others(5): Show |
C | 1 | a0001c0004t0005g0222 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.176-8522_176-8511d others(14): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089318 | |||||||
chr17:64089423 | G | A | 1 | a0001c0002t0001g0155 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.176-8615C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089423 | |||||||
chr17:64089512 | A | G | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.175+8609T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089512 | |||||||
chr17:64089829 | AC | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.175+8291delG | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64089829 | |||||||
chr17:64090139 | A | G | 1 | a0001c0002t0024g0141 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.175+7982T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090139 | |||||||
chr17:64090146 | T | C | 1 | a0001c0002t0001g0169 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.175+7975A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090146 | |||||||
chr17:64090174 | AT | A | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.175+7946delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090174 | |||||||
chr17:64090183 | T | A | 1 | a0001c0002t0001g0047 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.175+7938A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090183 | |||||||
chr17:64090229 | C | T | 158 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(155): Show |
163 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.175+7892G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090229 | |||||||
chr17:64090270 | A | C | 1 | a0001c0003t0004g0004 | 2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.175+7851T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090270 | |||||||
chr17:64090278 | C | T | 2 | a0001c0001t0002g0060 a0001c0001t0002g0108 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.175+7843G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090278 | |||||||
chr17:64090365 | T | C | 13 | a0001c0002t0006g0027 a0001c0002t0015g0219 a0001c0002t0015g0220 others(10): Show |
15 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.175+7756A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090365 | |||||||
chr17:64090382 | C | T | 18 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.175+7739G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090382 | |||||||
chr17:64090423 | C | G | 1 | a0001c0001t0002g0140 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.175+7698G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090423 | |||||||
chr17:64090470 | CTG | C | 11 | a0001c0002t0006g0027 a0001c0004t0005g0001 a0001c0004t0005g0204 others(8): Show |
13 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.175+7649_175+7650d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090470 | |||||||
chr17:64090533 | C | T | 1 | a0001c0001t0002g0055 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.175+7588G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090533 | |||||||
chr17:64090800 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.175+7321C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090800 | |||||||
chr17:64090891 | C | T | 1 | a0001c0002t0006g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.175+7230G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090891 | |||||||
chr17:64090892 | G | A | 1 | a0001c0005t0001g0082 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.175+7229C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64090892 | |||||||
chr17:64091097 | G | T | 10 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(7): Show |
11 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.175+7024C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091097 | |||||||
chr17:64091193 | CT | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+6927delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091193 | |||||||
chr17:64091218 | A | G | 24 | a0001c0001t0003g0161 a0001c0002t0001g0169 a0001c0002t0006g0166 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.175+6903T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091218 | |||||||
chr17:64091249 | C | T | 24 | a0001c0001t0003g0161 a0001c0002t0001g0169 a0001c0002t0006g0166 others(21): Show |
24 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(21): Show |
intron_variant | MODIFIER | c.175+6872G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091249 | |||||||
chr17:64091281 | C | A | 1 | a0001c0002t0001g0155 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.175+6840G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091281 | |||||||
chr17:64091514 | A | C | 1 | a0001c0005t0001g0115 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.175+6607T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091514 | |||||||
chr17:64091526 | C | T | 3 | a0001c0004t0018g0162 a0001c0004t0035g0164 a0001c0004t0036g0163 |
3 | HG01891.hp2 HG02818.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.175+6595G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091526 | |||||||
chr17:64091754 | C | G | 18 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.175+6367G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091754 | |||||||
chr17:64091767 | C | CG | 50 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(47): Show |
50 | HG00621.hp1 HG00621.hp2 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.175+6353dupC | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091767 | |||||||
chr17:64091824 | A | C | 18 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.175+6297T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091824 | |||||||
chr17:64091885 | G | A | 17 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(14): Show |
17 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.175+6236C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091885 | |||||||
chr17:64091953 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+6168G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091953 | |||||||
chr17:64091977 | C | T | 1 | a0001c0003t0004g0142 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.175+6144G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64091977 | |||||||
chr17:64092081 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.175+6040G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092081 | |||||||
chr17:64092322 | A | C | 11 | a0001c0002t0006g0027 a0001c0004t0005g0001 a0001c0004t0005g0204 others(8): Show |
13 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.175+5799T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092322 | |||||||
chr17:64092370 | C | T | 6 | a0001c0002t0006g0166 a0001c0002t0006g0172 a0001c0002t0006g0173 others(3): Show |
6 | HG01109.hp2 HG02647.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.175+5751G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092370 | |||||||
chr17:64092390 | C | T | 11 | a0001c0002t0006g0027 a0001c0004t0005g0001 a0001c0004t0005g0204 others(8): Show |
13 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.175+5731G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092390 | |||||||
chr17:64092418 | T | G | 1 | a0001c0002t0001g0033 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.175+5703A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092418 | |||||||
chr17:64092574 | T | C | 1 | a0001c0001t0002g0107 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.175+5547A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092574 | |||||||
chr17:64092609 | G | C | 1 | a0001c0001t0002g0211 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.175+5512C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092609 | |||||||
chr17:64092826 | G | A | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.175+5295C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092826 | |||||||
chr17:64092872 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.175+5249G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092872 | |||||||
chr17:64092873 | G | A | 4 | a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0001g0037 others(1): Show |
4 | HG00280.hp2 HG01255.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.175+5248C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092873 | |||||||
chr17:64092935 | C | T | 1 | a0001c0018t0004g0143 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.175+5186G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092935 | |||||||
chr17:64092941 | A | C | 1 | a0001c0001t0003g0184 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.175+5180T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092941 | |||||||
chr17:64092942 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+5179G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64092942 | |||||||
chr17:64093019 | C | T | 1 | a0001c0002t0001g0155 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.175+5102G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093019 | |||||||
chr17:64093048 | A | G | 1 | a0001c0001t0028g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.175+5073T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093048 | |||||||
chr17:64093156 | C | T | 23 | a0001c0002t0001g0169 a0001c0002t0006g0166 a0001c0002t0006g0168 others(20): Show |
23 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(20): Show |
intron_variant | MODIFIER | c.175+4965G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093156 | |||||||
chr17:64093534 | G | A | 3 | a0001c0004t0018g0162 a0001c0004t0035g0164 a0001c0004t0036g0163 |
3 | HG01891.hp2 HG02818.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.175+4587C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093534 | |||||||
chr17:64093624 | C | T | 1 | a0002c0008t0003g0195 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.175+4497G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093624 | |||||||
chr17:64093765 | T | A | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.175+4356A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093765 | |||||||
chr17:64093781 | T | C | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.175+4340A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093781 | |||||||
chr17:64093816 | G | T | 1 | a0001c0001t0002g0008 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.175+4305C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64093816 | |||||||
chr17:64094064 | C | T | 23 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(20): Show |
23 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.175+4057G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094064 | |||||||
chr17:64094363 | A | G | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+3758T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094363 | |||||||
chr17:64094424 | A | C | 2 | a0001c0001t0002g0077 a0001c0001t0002g0078 |
2 | NA18986.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.175+3697T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094424 | |||||||
chr17:64094517 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.175+3604C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094517 | |||||||
chr17:64094602 | G | A | 1 | a0001c0002t0039g0229 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.175+3519C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094602 | |||||||
chr17:64094626 | C | CT | 13 | a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0155 others(10): Show |
14 | HG01069.hp2 HG01071.hp2 HG01192.hp2 others(11): Show |
intron_variant | MODIFIER | c.175+3494dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094626 | |||||||
chr17:64094626 | CT | C | 7 | a0001c0001t0003g0114 a0001c0001t0003g0196 a0001c0001t0017g0066 others(4): Show |
7 | HG01099.hp1 HG01256.hp2 HG02155.hp1 others(4): Show |
intron_variant | MODIFIER | c.175+3494delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094626 | |||||||
chr17:64094818 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+3303G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64094818 | |||||||
chr17:64095250 | G | A | 11 | a0001c0002t0006g0027 a0001c0004t0005g0001 a0001c0004t0005g0204 others(8): Show |
13 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.175+2871C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64095250 | |||||||
chr17:64095268 | A | G | 1 | a0001c0006t0025g0112 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.175+2853T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64095268 | |||||||
chr17:64095375 | G | C | 5 | a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0020 others(2): Show |
5 | HG02257.hp1 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.175+2746C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64095375 | |||||||
chr17:64095638 | G | A | 3 | a0001c0001t0002g0059 a0001c0001t0002g0124 a0001c0001t0002g0139 |
3 | HG00408.hp1 HG02027.hp1 NA18973.hp1 |
intron_variant | MODIFIER | c.175+2483C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64095638 | |||||||
chr17:64095955 | T | G | 18 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.175+2166A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64095955 | |||||||
chr17:64096126 | G | A | 6 | a0001c0002t0006g0166 a0001c0002t0006g0172 a0001c0002t0006g0173 others(3): Show |
6 | HG01109.hp2 HG02647.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.175+1995C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096126 | |||||||
chr17:64096145 | G | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+1976C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096145 | |||||||
chr17:64096317 | C | T | 1 | a0001c0001t0009g0132 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.175+1804G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096317 | |||||||
chr17:64096422 | A | C | 4 | a0001c0007t0001g0035 a0001c0007t0001g0036 a0001c0007t0001g0037 others(1): Show |
4 | HG00280.hp2 HG01255.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.175+1699T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096422 | |||||||
chr17:64096498 | A | T | 6 | a0001c0002t0006g0166 a0001c0002t0006g0172 a0001c0002t0006g0173 others(3): Show |
6 | HG01109.hp2 HG02647.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.175+1623T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096498 | |||||||
chr17:64096536 | G | C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.175+1585C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096536 | |||||||
chr17:64096624 | C | G | 18 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.175+1497G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096624 | |||||||
chr17:64096642 | T | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.175+1479A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096642 | |||||||
chr17:64096689 | A | G | 1 | a0001c0001t0003g0224 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.175+1432T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096689 | |||||||
chr17:64096976 | T | C | 12 | a0001c0002t0006g0027 a0001c0004t0005g0001 a0001c0004t0005g0204 others(9): Show |
14 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.175+1145A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64096976 | |||||||
chr17:64097235 | G | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.175+886C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097235 | |||||||
chr17:64097405 | G | C | 17 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(14): Show |
17 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.175+716C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097405 | |||||||
chr17:64097594 | C | G | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.175+527G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097594 | |||||||
chr17:64097600 | C | T | 35 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0041 others(32): Show |
36 | HG00558.hp2 HG00621.hp2 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.175+521G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097600 | |||||||
chr17:64097621 | A | G | 10 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(7): Show |
11 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.175+500T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097621 | |||||||
chr17:64097897 | A | G | 10 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(7): Show |
11 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.175+224T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097897 | |||||||
chr17:64097927 | C | G | 1 | a0001c0001t0002g0094 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.175+194G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64097927 | |||||||
chr17:64098101 | A | G | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.175+20T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | 64098101 | |||||||
chr17:64098315 | C | A | 1 | a0001c0001t0003g0224 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.55-74G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64098315 | |||||||
chr17:64098467 | C | A | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.55-226G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64098467 | |||||||
chr17:64098600 | C | T | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.55-359G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64098600 | |||||||
chr17:64098745 | T | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-504A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64098745 | |||||||
chr17:64098842 | C | G | 6 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0002t0001g0042 others(3): Show |
6 | HG01071.hp1 HG01192.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.55-601G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64098842 | |||||||
chr17:64099046 | T | C | 16 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.55-805A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099046 | |||||||
chr17:64099277 | A | AT | 88 | a0001c0001t0002g0211 a0001c0001t0003g0150 a0001c0001t0003g0161 others(85): Show |
91 | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(88): Show |
intron_variant | MODIFIER | c.55-1037dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099277 | |||||||
chr17:64099363 | C | T | 10 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(7): Show |
11 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.55-1122G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099363 | |||||||
chr17:64099432 | G | A | 1 | a0001c0001t0002g0017 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.55-1191C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099432 | |||||||
chr17:64099516 | C | T | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-1275G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099516 | |||||||
chr17:64099685 | C | T | 2 | a0001c0002t0007g0179 a0001c0002t0007g0180 |
2 | HG01081.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.55-1444G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099685 | |||||||
chr17:64099730 | C | A | 1 | a0001c0002t0007g0180 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.55-1489G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099730 | |||||||
chr17:64099783 | C | T | 3 | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0125 |
3 | HG01975.hp2 HG01978.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.55-1542G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099783 | |||||||
chr17:64099803 | G | C | 1 | a0001c0002t0001g0016 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.55-1562C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099803 | |||||||
chr17:64099995 | C | T | 27 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0006g0027 others(24): Show |
29 | HG01099.hp1 HG01243.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.55-1754G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64099995 | |||||||
chr17:64100016 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.55-1775G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100016 | |||||||
chr17:64100231 | T | C | 2 | a0001c0002t0001g0002 a0001c0002t0001g0138 |
3 | HG01106.hp1 HG02148.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.55-1990A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100231 | |||||||
chr17:64100259 | A | G | 2 | a0001c0001t0003g0185 a0001c0001t0003g0199 |
2 | HG00673.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.55-2018T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100259 | |||||||
chr17:64100394 | C | A | 23 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(20): Show |
23 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.55-2153G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100394 | |||||||
chr17:64100394 | C | G | 1 | a0001c0002t0001g0169 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.55-2153G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100394 | |||||||
chr17:64100568 | C | T | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.55-2327G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100568 | |||||||
chr17:64100632 | A | G | 1 | a0001c0002t0010g0212 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.55-2391T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100632 | |||||||
chr17:64100781 | C | CAATA | 2 | a0001c0004t0035g0164 a0001c0004t0036g0163 |
2 | HG02818.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.55-2544_55-2541dup others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100781 | |||||||
chr17:64100781 | C | CAATAAAT others(1): Show |
6 | a0001c0002t0013g0203 a0001c0002t0013g0205 a0001c0003t0004g0004 others(3): Show |
7 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.55-2548_55-2541dup others(8): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100781 | |||||||
chr17:64100823 | C | G | 16 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.55-2582G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100823 | |||||||
chr17:64100919 | G | A | 16 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.55-2678C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64100919 | |||||||
chr17:64101054 | C | T | 1 | a0001c0002t0001g0088 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.55-2813G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101054 | |||||||
chr17:64101122 | G | A | 87 | a0001c0001t0002g0211 a0001c0001t0003g0150 a0001c0001t0003g0224 others(84): Show |
90 | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(87): Show |
intron_variant | MODIFIER | c.55-2881C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101122 | |||||||
chr17:64101206 | C | T | 1 | a0001c0003t0004g0142 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.55-2965G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101206 | |||||||
chr17:64101222 | A | C | 1 | a0001c0001t0031g0007 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.55-2981T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101222 | |||||||
chr17:64101237 | C | T | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-2996G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101237 | |||||||
chr17:64101296 | C | T | 1 | a0001c0001t0003g0111 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.55-3055G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101296 | |||||||
chr17:64101306 | C | T | 1 | a0001c0002t0001g0194 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.55-3065G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101306 | |||||||
chr17:64101367 | G | A | 1 | a0001c0005t0001g0115 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.55-3126C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101367 | |||||||
chr17:64101536 | G | C | 1 | a0001c0001t0002g0211 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.55-3295C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101536 | |||||||
chr17:64101536 | G | T | 25 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0006g0027 others(22): Show |
27 | HG01099.hp1 HG01243.hp2 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.55-3295C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101536 | |||||||
chr17:64101558 | A | T | 1 | a0001c0006t0007g0101 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.55-3317T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101558 | |||||||
chr17:64101673 | A | T | 6 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0039g0229 others(3): Show |
6 | HG01884.hp1 HG02630.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.55-3432T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64101673 | |||||||
chr17:64102108 | C | T | 2 | a0004c0013t0014g0156 a0004c0013t0014g0157 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.55-3867G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102108 | |||||||
chr17:64102272 | C | G | 1 | a0001c0001t0002g0015 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.55-4031G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102272 | |||||||
chr17:64102427 | T | C | 12 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.55-4186A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102427 | |||||||
chr17:64102433 | C | T | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-4192G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102433 | |||||||
chr17:64102666 | T | C | 2 | a0003c0010t0022g0121 a0003c0010t0023g0120 |
2 | HG01069.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.55-4425A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102666 | |||||||
chr17:64102689 | G | A | 1 | a0001c0002t0007g0180 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.55-4448C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102689 | |||||||
chr17:64102898 | G | A | 20 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(17): Show |
23 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.55-4657C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102898 | |||||||
chr17:64102937 | T | C | 1 | a0001c0002t0006g0027 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.55-4696A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64102937 | |||||||
chr17:64103190 | G | A | 1 | a0001c0002t0007g0180 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.55-4949C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64103190 | |||||||
chr17:64103332 | A | G | 1 | a0001c0001t0002g0015 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.55-5091T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64103332 | |||||||
chr17:64103496 | CA | C | 14 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(11): Show |
14 | HG01243.hp2 HG01884.hp1 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.55-5256delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64103496 | |||||||
chr17:64103948 | A | C | 140 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(137): Show |
145 | HG00280.hp2 HG00558.hp2 HG00621.hp2 others(142): Show |
intron_variant | MODIFIER | c.55-5707T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64103948 | |||||||
chr17:64104017 | T | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-5776A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104017 | |||||||
chr17:64104075 | CA | C | 6 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(3): Show |
6 | HG02145.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.55-5835delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104075 | |||||||
chr17:64104280 | G | A | 1 | a0001c0002t0013g0205 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.55-6039C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104280 | |||||||
chr17:64104300 | T | C | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.55-6059A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104300 | |||||||
chr17:64104511 | G | C | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-6270C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104511 | |||||||
chr17:64104630 | T | C | 74 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(71): Show |
78 | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(75): Show |
intron_variant | MODIFIER | c.55-6389A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104630 | |||||||
chr17:64104652 | C | G | 1 | a0001c0005t0001g0014 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.55-6411G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104652 | |||||||
chr17:64104818 | C | CA | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-6578dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64104818 | |||||||
chr17:64105011 | T | TAC | 22 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(19): Show |
22 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.55-6772_55-6771dup others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105011 | |||||||
chr17:64105011 | TAC | T | 13 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(10): Show |
13 | HG01243.hp2 HG01884.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.55-6772_55-6771del others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105011 | |||||||
chr17:64105021 | C | T | 2 | a0001c0002t0001g0155 a0001c0002t0001g0167 |
2 | HG02055.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.55-6780G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105021 | |||||||
chr17:64105054 | A | G | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.55-6813T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105054 | |||||||
chr17:64105111 | CCTCT | C | 7 | a0001c0001t0003g0224 a0001c0004t0005g0001 a0001c0004t0005g0221 others(4): Show |
9 | HG01099.hp1 HG01891.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.55-6874_55-6871del others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105111 | |||||||
chr17:64105414 | A | T | 1 | a0001c0001t0002g0099 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.55-7173T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105414 | |||||||
chr17:64105830 | G | C | 22 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(19): Show |
22 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.55-7589C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105830 | |||||||
chr17:64105864 | A | C | 2 | a0001c0003t0004g0004 a0001c0004t0005g0204 |
3 | HG01069.hp2 HG01071.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.55-7623T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105864 | |||||||
chr17:64105960 | C | CA | 5 | a0001c0003t0004g0004 a0001c0003t0004g0207 a0001c0003t0004g0208 others(2): Show |
6 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.55-7720dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105960 | |||||||
chr17:64105960 | CA | C | 5 | a0001c0001t0001g0071 a0001c0001t0002g0084 a0001c0001t0002g0093 others(2): Show |
5 | HG01256.hp1 HG02135.hp1 HG02155.hp2 others(2): Show |
intron_variant | MODIFIER | c.55-7720delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105960 | |||||||
chr17:64105984 | C | G | 1 | a0001c0002t0006g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.55-7743G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64105984 | |||||||
chr17:64106008 | T | C | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.55-7767A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106008 | |||||||
chr17:64106118 | T | C | 3 | a0001c0002t0039g0229 a0004c0013t0014g0156 a0004c0013t0014g0157 |
3 | HG01884.hp1 NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.55-7877A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106118 | |||||||
chr17:64106468 | G | C | 1 | a0001c0002t0001g0081 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.55-8227C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106468 | |||||||
chr17:64106487 | T | C | 20 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(17): Show |
23 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.55-8246A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106487 | |||||||
chr17:64106715 | T | TAC | 33 | a0001c0001t0002g0060 a0001c0001t0002g0075 a0001c0001t0002g0083 others(30): Show |
33 | HG00639.hp1 HG00741.hp1 HG01069.hp1 others(30): Show |
intron_variant | MODIFIER | c.55-8476_55-8475dup others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACAC | 31 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 others(28): Show |
31 | HG00673.hp1 HG00673.hp2 HG00738.hp1 others(28): Show |
intron_variant | MODIFIER | c.55-8478_55-8475dup others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACAC | 35 | a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0099 others(32): Show |
36 | HG00733.hp1 HG00741.hp2 HG01069.hp2 others(33): Show |
intron_variant | MODIFIER | c.55-8480_55-8475dup others(6): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACACA others(1): Show |
31 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0032 others(28): Show |
31 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.55-8482_55-8475dup others(8): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACACA others(3): Show |
12 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0080 others(9): Show |
12 | HG00408.hp1 HG00621.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.55-8484_55-8475dup others(10): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACACA others(5): Show |
7 | a0001c0001t0002g0008 a0001c0001t0003g0182 a0001c0002t0001g0003 others(4): Show |
8 | HG01934.hp2 HG01981.hp2 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.55-8486_55-8475dup others(12): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACACA others(7): Show |
3 | a0001c0002t0001g0012 a0001c0002t0001g0064 a0001c0003t0004g0208 |
3 | HG01975.hp2 HG02738.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.55-8488_55-8475dup others(14): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACACA others(9): Show |
2 | a0001c0001t0002g0017 a0001c0002t0001g0065 |
2 | HG01978.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.55-8490_55-8475dup others(16): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | T | TACACACA others(13): Show |
1 | a0001c0002t0001g0088 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.55-8494_55-8475dup others(20): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | TAC | T | 10 | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0116 others(7): Show |
10 | HG00621.hp1 HG01081.hp1 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.55-8476_55-8475del others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | TACAC | T | 5 | a0001c0002t0001g0169 a0001c0002t0008g0165 a0001c0002t0008g0176 others(2): Show |
5 | HG02723.hp2 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.55-8478_55-8475del others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | TACACAC | T | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.55-8480_55-8475del others(6): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106715 | TACACACA others(3): Show |
T | 1 | a0001c0002t0006g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.55-8484_55-8475del others(10): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106715 | |||||||
chr17:64106750 | ACACACAC others(6): Show |
A | 2 | a0001c0001t0009g0126 a0001c0001t0009g0132 |
2 | HG02257.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.55-8522_55-8510del others(13): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106750 | |||||||
chr17:64106752 | ACACACAC others(4): Show |
A | 4 | a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0129 others(1): Show |
4 | HG02145.hp1 HG02886.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.55-8522_55-8512del others(11): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106752 | |||||||
chr17:64106760 | ACAC | A | 6 | a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0020 others(3): Show |
6 | HG02257.hp1 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.55-8522_55-8520del others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106760 | |||||||
chr17:64106763 | C | CA | 7 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(4): Show |
8 | HG01106.hp1 HG01255.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.55-8523dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106763 | |||||||
chr17:64106763 | C | CACA | 8 | a0001c0001t0003g0224 a0001c0002t0006g0027 a0001c0004t0005g0001 others(5): Show |
8 | HG01099.hp1 HG01891.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.55-8523_55-8522ins others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106763 | |||||||
chr17:64106763 | C | CACACA | 4 | a0001c0002t0011g0135 a0001c0002t0011g0137 a0001c0002t0012g0134 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.55-8523_55-8522ins others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64106763 | |||||||
chr17:64107658 | C | G | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.55-9417G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64107658 | |||||||
chr17:64107740 | C | A | 2 | a0001c0001t0002g0060 a0001c0001t0002g0108 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.55-9499G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64107740 | |||||||
chr17:64107744 | T | A | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-9503A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64107744 | |||||||
chr17:64108032 | G | C | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-9791C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108032 | |||||||
chr17:64108205 | T | TA | 15 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(12): Show |
16 | HG01069.hp2 HG01071.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-9965dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108205 | |||||||
chr17:64108212 | A | G | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-9971T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108212 | |||||||
chr17:64108296 | A | G | 1 | a0001c0002t0001g0217 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.55-10055T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108296 | |||||||
chr17:64108369 | C | T | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-10128G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108369 | |||||||
chr17:64108404 | C | T | 162 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(159): Show |
167 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(164): Show |
intron_variant | MODIFIER | c.55-10163G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108404 | |||||||
chr17:64108543 | G | C | 74 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(71): Show |
78 | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(75): Show |
intron_variant | MODIFIER | c.55-10302C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108543 | |||||||
chr17:64108548 | A | C | 1 | a0001c0001t0017g0086 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.55-10307T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108548 | |||||||
chr17:64108858 | C | T | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.55-10617G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108858 | |||||||
chr17:64108923 | G | A | 1 | a0001c0003t0004g0147 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.55-10682C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108923 | |||||||
chr17:64108992 | C | T | 1 | a0001c0002t0001g0012 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.55-10751G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64108992 | |||||||
chr17:64109131 | A | G | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.55-10890T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109131 | |||||||
chr17:64109135 | G | GA | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.55-10895dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109135 | |||||||
chr17:64109385 | G | A | 2 | a0001c0001t0003g0185 a0001c0001t0003g0199 |
2 | HG00673.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.55-11144C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109385 | |||||||
chr17:64109525 | G | A | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.55-11284C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109525 | |||||||
chr17:64109626 | C | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0064 a0001c0002t0001g0065 others(1): Show |
4 | HG01975.hp2 HG01978.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.55-11385G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109626 | |||||||
chr17:64109800 | G | A | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.55-11559C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109800 | |||||||
chr17:64109852 | C | T | 11 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(8): Show |
11 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.55-11611G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64109852 | |||||||
chr17:64110063 | G | A | 1 | a0001c0002t0001g0081 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.55-11822C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110063 | |||||||
chr17:64110178 | C | T | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.55-11937G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110178 | |||||||
chr17:64110254 | G | A | 1 | a0001c0006t0025g0112 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.55-12013C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110254 | |||||||
chr17:64110716 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-12475C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110716 | |||||||
chr17:64110759 | C | T | 15 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(12): Show |
15 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.55-12518G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110759 | |||||||
chr17:64110808 | C | A | 1 | a0001c0004t0018g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.55-12567G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110808 | |||||||
chr17:64110823 | T | C | 1 | a0001c0005t0001g0082 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.55-12582A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110823 | |||||||
chr17:64110834 | A | G | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.55-12593T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64110834 | |||||||
chr17:64111266 | T | C | 1 | a0001c0005t0001g0014 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.55-13025A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64111266 | |||||||
chr17:64111319 | C | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.55-13078G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64111319 | |||||||
chr17:64111357 | G | GT | 16 | a0001c0001t0002g0211 a0001c0001t0003g0224 a0001c0001t0020g0011 others(13): Show |
18 | HG00280.hp2 HG01099.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.55-13117dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64111357 | |||||||
chr17:64111357 | G | GTT | 5 | a0001c0002t0010g0212 a0001c0002t0010g0213 a0001c0002t0010g0214 others(2): Show |
5 | HG02280.hp2 HG02559.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.55-13118_55-13117d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64111357 | |||||||
chr17:64111416 | C | T | 2 | a0001c0002t0001g0028 a0001c0002t0001g0029 |
2 | NA18967.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.55-13175G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64111416 | |||||||
chr17:64111424 | C | T | 4 | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0116 others(1): Show |
4 | HG00621.hp1 NA18965.hp2 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.55-13183G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64111424 | |||||||
chr17:64112079 | A | C | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.55-13838T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112079 | |||||||
chr17:64112299 | T | C | 1 | a0001c0001t0003g0191 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.55-14058A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112299 | |||||||
chr17:64112358 | ACT | A | 11 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(8): Show |
12 | HG01106.hp1 HG01255.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.55-14119_55-14118d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112358 | |||||||
chr17:64112367 | C | CA | 16 | a0001c0001t0002g0109 a0001c0001t0003g0111 a0001c0001t0009g0126 others(13): Show |
16 | HG01978.hp1 HG01981.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.55-14127dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112367 | |||||||
chr17:64112367 | C | CAA | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.55-14128_55-14127d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112367 | |||||||
chr17:64112456 | G | T | 2 | a0001c0001t0002g0032 a0001c0001t0002g0083 |
2 | NA18957.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.55-14215C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112456 | |||||||
chr17:64112550 | T | A | 11 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(8): Show |
11 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.55-14309A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112550 | |||||||
chr17:64112707 | A | G | 17 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(14): Show |
17 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(14): Show |
intron_variant | MODIFIER | c.55-14466T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112707 | |||||||
chr17:64112740 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.55-14499C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64112740 | |||||||
chr17:64113029 | T | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.55-14788A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64113029 | |||||||
chr17:64113129 | G | A | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.55-14888C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64113129 | |||||||
chr17:64113703 | A | G | 1 | a0001c0002t0006g0027 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.55-15462T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64113703 | |||||||
chr17:64113750 | C | T | 1 | a0001c0001t0003g0114 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.55-15509G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64113750 | |||||||
chr17:64113794 | T | C | 7 | a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0146 others(4): Show |
7 | HG01243.hp2 HG02723.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.55-15553A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64113794 | |||||||
chr17:64114070 | TA | T | 133 | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0002g0005 others(130): Show |
138 | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.55-15830delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114070 | |||||||
chr17:64114133 | C | T | 1 | a0001c0002t0001g0021 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.54+15843G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114133 | |||||||
chr17:64114177 | T | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+15799A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114177 | |||||||
chr17:64114236 | C | T | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.54+15740G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114236 | |||||||
chr17:64114427 | T | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+15549A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114427 | |||||||
chr17:64114559 | G | A | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+15417C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114559 | |||||||
chr17:64114625 | T | C | 2 | a0004c0013t0014g0156 a0004c0013t0014g0157 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.54+15351A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114625 | |||||||
chr17:64114637 | G | C | 2 | a0004c0013t0014g0156 a0004c0013t0014g0157 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.54+15339C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114637 | |||||||
chr17:64114885 | C | T | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.54+15091G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64114885 | |||||||
chr17:64115517 | C | T | 1 | a0001c0001t0002g0063 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.54+14459G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64115517 | |||||||
chr17:64115525 | G | C | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+14451C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64115525 | |||||||
chr17:64115540 | A | C | 4 | a0001c0002t0011g0135 a0001c0002t0011g0136 a0001c0002t0011g0137 others(1): Show |
4 | HG01346.hp1 HG01884.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.54+14436T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64115540 | |||||||
chr17:64115623 | C | T | 1 | a0001c0001t0002g0008 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.54+14353G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64115623 | |||||||
chr17:64115681 | G | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.54+14295C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64115681 | |||||||
chr17:64115758 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+14218C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64115758 | |||||||
chr17:64116039 | C | T | 2 | a0001c0003t0004g0151 a0001c0003t0004g0152 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.54+13937G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116039 | |||||||
chr17:64116642 | T | TA | 7 | a0001c0001t0003g0224 a0001c0004t0005g0001 a0001c0004t0005g0221 others(4): Show |
9 | HG01099.hp1 HG01891.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.54+13333dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116642 | |||||||
chr17:64116654 | A | AAC | 20 | a0001c0002t0006g0166 a0001c0002t0006g0168 a0001c0002t0006g0172 others(17): Show |
20 | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(17): Show |
intron_variant | MODIFIER | c.54+13320_54+13321d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116654 | |||||||
chr17:64116654 | A | AACAC | 2 | a0001c0001t0002g0139 a0001c0001t0031g0007 |
2 | HG02027.hp1 HG02027.hp2 |
intron_variant | MODIFIER | c.54+13318_54+13321d others(6): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116654 | |||||||
chr17:64116654 | A | AACACACA others(1): Show |
16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0144 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.54+13314_54+13321d others(10): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116654 | |||||||
chr17:64116763 | C | T | 11 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(8): Show |
11 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.54+13213G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116763 | |||||||
chr17:64116842 | T | C | 4 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(1): Show |
4 | HG01255.hp1 HG02055.hp1 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.54+13134A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116842 | |||||||
chr17:64116859 | C | CTTTG | 4 | a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0129 others(1): Show |
4 | HG02145.hp1 HG02886.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.54+13113_54+13116d others(6): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116859 | |||||||
chr17:64116894 | G | A | 14 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(11): Show |
14 | HG01243.hp2 HG01884.hp1 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.54+13082C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116894 | |||||||
chr17:64116920 | C | T | 6 | a0001c0002t0001g0217 a0001c0002t0010g0212 a0001c0002t0010g0213 others(3): Show |
6 | HG02280.hp2 HG02559.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.54+13056G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116920 | |||||||
chr17:64116931 | T | C | 17 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(14): Show |
17 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(14): Show |
intron_variant | MODIFIER | c.54+13045A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116931 | |||||||
chr17:64116948 | CA | C | 85 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(82): Show |
88 | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(85): Show |
intron_variant | MODIFIER | c.54+13027delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116948 | |||||||
chr17:64116975 | T | G | 101 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(98): Show |
105 | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(102): Show |
intron_variant | MODIFIER | c.54+13001A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116975 | |||||||
chr17:64116995 | C | T | 2 | a0001c0001t0003g0185 a0001c0001t0003g0199 |
2 | HG00673.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.54+12981G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64116995 | |||||||
chr17:64117138 | A | T | 26 | a0001c0001t0003g0150 a0001c0001t0003g0224 a0001c0002t0015g0219 others(23): Show |
28 | HG01099.hp1 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.54+12838T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117138 | |||||||
chr17:64117144 | A | T | 19 | a0001c0001t0003g0150 a0001c0002t0006g0166 a0001c0002t0006g0172 others(16): Show |
19 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.54+12832T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117144 | |||||||
chr17:64117169 | G | A | 1 | a0001c0002t0001g0155 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.54+12807C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117169 | |||||||
chr17:64117416 | G | T | 3 | a0001c0009t0002g0040 a0001c0009t0002g0061 a0001c0009t0002g0062 |
3 | HG01167.hp1 HG01243.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.54+12560C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117416 | |||||||
chr17:64117442 | C | CA | 12 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.54+12533dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117442 | |||||||
chr17:64117717 | C | G | 1 | a0001c0002t0011g0135 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.54+12259G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117717 | |||||||
chr17:64117718 | A | G | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+12258T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117718 | |||||||
chr17:64117945 | C | G | 20 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(17): Show |
23 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.54+12031G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64117945 | |||||||
chr17:64118163 | T | C | 23 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(20): Show |
23 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.54+11813A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64118163 | |||||||
chr17:64118199 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+11777C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64118199 | |||||||
chr17:64118311 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+11665G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64118311 | |||||||
chr17:64118498 | T | C | 2 | a0003c0010t0022g0121 a0003c0010t0023g0120 |
2 | HG01069.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.54+11478A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64118498 | |||||||
chr17:64118687 | T | C | 1 | a0001c0003t0004g0130 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.54+11289A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64118687 | |||||||
chr17:64119024 | T | A | 1 | a0001c0006t0025g0112 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.54+10952A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119024 | |||||||
chr17:64119238 | G | A | 12 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(9): Show |
13 | HG01106.hp1 HG01255.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.54+10738C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119238 | |||||||
chr17:64119375 | G | GGTT | 10 | a0001c0001t0002g0211 a0001c0001t0009g0127 a0001c0002t0001g0217 others(7): Show |
10 | HG01167.hp2 HG02145.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.54+10598_54+10600d others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119375 | |||||||
chr17:64119376 | G | GT | 45 | a0001c0001t0001g0044 a0001c0001t0002g0008 a0001c0001t0002g0041 others(42): Show |
45 | HG00408.hp1 HG00408.hp2 HG00621.hp1 others(42): Show |
intron_variant | MODIFIER | c.54+10599dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | G | GTTGTTTT others(6): Show |
3 | a0001c0002t0015g0219 a0001c0002t0015g0220 a0001c0002t0021g0218 |
3 | HG02895.hp2 HG02897.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.54+10599_54+10600i others(15): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | G | GTTGTTTT others(15): Show |
1 | a0006c0019t0008g0153 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.54+10599_54+10600i others(24): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | G | GTTGTTTT others(16): Show |
1 | a0001c0022t0033g0154 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.54+10599_54+10600i others(25): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | G | GTTGTTTT others(17): Show |
2 | a0001c0002t0001g0155 a0001c0002t0001g0167 |
2 | HG02055.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.54+10599_54+10600i others(26): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | GT | G | 13 | a0001c0001t0003g0114 a0001c0001t0003g0161 a0001c0001t0003g0197 others(10): Show |
13 | HG01891.hp2 HG02155.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.54+10599delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | GTT | G | 13 | a0001c0002t0006g0166 a0001c0002t0006g0168 a0001c0002t0006g0172 others(10): Show |
13 | HG00733.hp2 HG01081.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.54+10598_54+10599d others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | GTTT | G | 6 | a0001c0002t0006g0177 a0001c0006t0007g0117 a0001c0006t0007g0118 others(3): Show |
6 | HG00741.hp1 HG01069.hp1 HG01256.hp2 others(3): Show |
intron_variant | MODIFIER | c.54+10597_54+10599d others(5): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | GTTTTTTT | G | 12 | a0001c0001t0003g0150 a0001c0003t0004g0142 a0001c0003t0004g0144 others(9): Show |
12 | HG01243.hp2 HG01884.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.54+10593_54+10599d others(9): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119376 | GTTTTTTT others(1): Show |
G | 7 | a0001c0002t0013g0203 a0001c0002t0013g0205 a0001c0003t0004g0004 others(4): Show |
8 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.54+10592_54+10599d others(10): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119376 | |||||||
chr17:64119377 | T | TTG | 6 | a0001c0001t0009g0126 a0001c0001t0009g0128 a0001c0001t0009g0129 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.54+10598_54+10599i others(4): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119377 | |||||||
chr17:64119378 | T | TG | 5 | a0001c0001t0002g0022 a0001c0002t0001g0020 a0001c0002t0001g0138 others(2): Show |
5 | HG01106.hp1 HG01891.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.54+10597_54+10598i others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119378 | |||||||
chr17:64119379 | T | G | 17 | a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0026 others(14): Show |
20 | HG01099.hp1 HG01255.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.54+10597A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119379 | |||||||
chr17:64119380 | T | G | 2 | a0001c0004t0005g0222 a0001c0004t0005g0223 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.54+10596A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119380 | |||||||
chr17:64119381 | T | G | 1 | a0001c0002t0006g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.54+10595A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119381 | |||||||
chr17:64119385 | T | G | 2 | a0001c0001t0003g0188 a0001c0001t0030g0181 |
2 | HG02135.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.54+10591A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119385 | |||||||
chr17:64119387 | T | G | 7 | a0001c0002t0013g0203 a0001c0002t0013g0205 a0001c0003t0004g0004 others(4): Show |
8 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.54+10589A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119387 | |||||||
chr17:64119536 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+10440C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119536 | |||||||
chr17:64119739 | G | A | 1 | a0001c0005t0001g0115 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.54+10237C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64119739 | |||||||
chr17:64120073 | T | A | 1 | a0001c0002t0024g0141 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.54+9903A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120073 | |||||||
chr17:64120074 | A | T | 1 | a0001c0002t0006g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.54+9902T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120074 | |||||||
chr17:64120112 | C | G | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+9864G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120112 | |||||||
chr17:64120328 | C | A | 8 | a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0146 others(5): Show |
8 | HG01243.hp2 HG02647.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.54+9648G>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120328 | |||||||
chr17:64120471 | C | CA | 13 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(10): Show |
14 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.54+9504dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120471 | |||||||
chr17:64120564 | T | C | 1 | a0001c0001t0002g0116 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.54+9412A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120564 | |||||||
chr17:64120662 | C | G | 1 | a0001c0001t0002g0005 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.54+9314G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120662 | |||||||
chr17:64120685 | A | C | 3 | a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 |
3 | HG02257.hp1 HG02451.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.54+9291T>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120685 | |||||||
chr17:64120971 | C | T | 11 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(8): Show |
11 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.54+9005G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64120971 | |||||||
chr17:64121007 | A | G | 2 | a0001c0001t0003g0188 a0001c0001t0030g0181 |
2 | HG02135.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.54+8969T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121007 | |||||||
chr17:64121278 | G | T | 1 | a0001c0002t0012g0134 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.54+8698C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121278 | |||||||
chr17:64121330 | A | G | 3 | a0001c0004t0005g0221 a0001c0004t0005g0222 a0001c0004t0005g0223 |
3 | HG01891.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.54+8646T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121330 | |||||||
chr17:64121495 | T | A | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.54+8481A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121495 | |||||||
chr17:64121497 | T | TTTG | 2 | a0001c0002t0001g0002 a0001c0002t0001g0138 |
3 | HG01106.hp1 HG02148.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.54+8476_54+8478dup others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121497 | |||||||
chr17:64121725 | G | A | 16 | a0001c0001t0003g0150 a0001c0002t0039g0229 a0001c0003t0004g0142 others(13): Show |
16 | HG01243.hp2 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.54+8251C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121725 | |||||||
chr17:64121776 | T | C | 75 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(72): Show |
79 | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(76): Show |
intron_variant | MODIFIER | c.54+8200A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121776 | |||||||
chr17:64121850 | C | T | 1 | a0001c0001t0002g0211 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.54+8126G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64121850 | |||||||
chr17:64122166 | A | T | 1 | a0001c0002t0021g0218 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.54+7810T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64122166 | |||||||
chr17:64122192 | G | T | 11 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(8): Show |
11 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.54+7784C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64122192 | |||||||
chr17:64122425 | A | G | 1 | a0001c0001t0002g0039 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.54+7551T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64122425 | |||||||
chr17:64122590 | T | C | 102 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(99): Show |
106 | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(103): Show |
intron_variant | MODIFIER | c.54+7386A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64122590 | |||||||
chr17:64122786 | T | C | 11 | a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0013g0203 others(8): Show |
12 | HG01069.hp2 HG01071.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.54+7190A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64122786 | |||||||
chr17:64123069 | C | T | 23 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(20): Show |
23 | HG00280.hp2 HG01167.hp2 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.54+6907G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123069 | |||||||
chr17:64123184 | CA | C | 12 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.54+6791delT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123184 | |||||||
chr17:64123241 | G | A | 2 | a0001c0002t0001g0030 a0001c0002t0001g0031 |
2 | NA18957.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.54+6735C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123241 | |||||||
chr17:64123364 | C | T | 1 | a0001c0001t0009g0126 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.54+6612G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123364 | |||||||
chr17:64123369 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+6607G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123369 | |||||||
chr17:64123408 | G | C | 2 | a0001c0002t0001g0030 a0001c0002t0001g0031 |
2 | NA18957.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.54+6568C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123408 | |||||||
chr17:64123444 | T | C | 12 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.54+6532A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123444 | |||||||
chr17:64123872 | G | A | 2 | a0001c0002t0001g0016 a0001c0002t0001g0122 |
2 | NA18978.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.54+6104C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64123872 | |||||||
chr17:64124014 | T | C | 20 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(17): Show |
23 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.54+5962A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124014 | |||||||
chr17:64124168 | T | A | 1 | a0001c0022t0033g0154 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.54+5808A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124168 | |||||||
chr17:64124444 | G | A | 1 | a0001c0001t0003g0198 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.54+5532C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124444 | |||||||
chr17:64124503 | T | C | 20 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(17): Show |
23 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.54+5473A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124503 | |||||||
chr17:64124777 | T | C | 1 | a0001c0001t0002g0017 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.54+5199A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124777 | |||||||
chr17:64124807 | A | G | 7 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 others(4): Show |
7 | NA18957.hp2 NA18967.hp1 NA18977.hp2 others(4): Show |
intron_variant | MODIFIER | c.54+5169T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124807 | |||||||
chr17:64124942 | T | G | 2 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.54+5034A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124942 | |||||||
chr17:64124975 | G | T | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+5001C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124975 | |||||||
chr17:64124983 | C | T | 2 | a0001c0002t0007g0179 a0001c0002t0007g0180 |
2 | HG01081.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.54+4993G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64124983 | |||||||
chr17:64125111 | G | A | 20 | a0001c0001t0002g0211 a0001c0001t0009g0126 a0001c0001t0009g0127 others(17): Show |
20 | HG01167.hp2 HG01346.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.54+4865C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125111 | |||||||
chr17:64125139 | T | C | 1 | a0001c0021t0018g0149 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.54+4837A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125139 | |||||||
chr17:64125329 | T | C | 85 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(82): Show |
88 | HG00733.hp2 HG01081.hp1 HG01099.hp1 others(85): Show |
intron_variant | MODIFIER | c.54+4647A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125329 | |||||||
chr17:64125393 | T | G | 1 | a0001c0001t0003g0150 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.54+4583A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125393 | |||||||
chr17:64125474 | G | T | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+4502C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125474 | |||||||
chr17:64125605 | C | T | 1 | a0001c0002t0006g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.54+4371G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125605 | |||||||
chr17:64125632 | G | A | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+4344C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125632 | |||||||
chr17:64125699 | G | A | 13 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(10): Show |
14 | HG01106.hp1 HG01255.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.54+4277C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125699 | |||||||
chr17:64125712 | C | T | 1 | a0002c0008t0034g0187 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.54+4264G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125712 | |||||||
chr17:64125731 | C | G | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+4245G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125731 | |||||||
chr17:64125768 | C | T | 83 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(80): Show |
86 | HG00733.hp2 HG01081.hp1 HG01099.hp1 others(83): Show |
intron_variant | MODIFIER | c.54+4208G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125768 | |||||||
chr17:64125808 | T | C | 1 | a0001c0001t0002g0124 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.54+4168A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125808 | |||||||
chr17:64125901 | G | A | 9 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(6): Show |
9 | HG01167.hp2 HG02280.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.54+4075C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125901 | |||||||
chr17:64125944 | C | T | 83 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(80): Show |
86 | HG00733.hp2 HG01081.hp1 HG01099.hp1 others(83): Show |
intron_variant | MODIFIER | c.54+4032G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125944 | |||||||
chr17:64125969 | A | G | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+4007T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64125969 | |||||||
chr17:64126251 | C | T | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+3725G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126251 | |||||||
chr17:64126390 | C | G | 3 | a0001c0002t0001g0155 a0001c0022t0033g0154 a0006c0019t0008g0153 |
3 | HG02109.hp1 HG02486.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.54+3586G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126390 | |||||||
chr17:64126437 | A | G | 3 | a0001c0002t0015g0219 a0001c0002t0015g0220 a0001c0002t0021g0218 |
3 | HG02895.hp2 HG02897.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.54+3539T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126437 | |||||||
chr17:64126456 | T | C | 1 | a0001c0002t0001g0217 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.54+3520A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126456 | |||||||
chr17:64126540 | A | G | 1 | a0001c0001t0002g0032 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.54+3436T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126540 | |||||||
chr17:64126604 | A | G | 1 | a0001c0004t0005g0226 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.54+3372T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126604 | |||||||
chr17:64126687 | G | GA | 85 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(82): Show |
88 | HG00733.hp2 HG01081.hp1 HG01099.hp1 others(85): Show |
intron_variant | MODIFIER | c.54+3288dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126687 | |||||||
chr17:64126789 | T | C | 7 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(4): Show |
7 | HG01167.hp2 HG02280.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.54+3187A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126789 | |||||||
chr17:64126846 | T | C | 2 | a0001c0001t0003g0185 a0001c0001t0003g0199 |
2 | HG00673.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.54+3130A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126846 | |||||||
chr17:64126932 | G | C | 1 | a0001c0001t0002g0124 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.54+3044C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126932 | |||||||
chr17:64126941 | C | T | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+3035G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64126941 | |||||||
chr17:64127186 | A | G | 1 | a0001c0002t0008g0178 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.54+2790T>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127186 | |||||||
chr17:64127200 | G | A | 20 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(17): Show |
23 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.54+2776C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127200 | |||||||
chr17:64127252 | T | G | 2 | a0001c0002t0015g0219 a0001c0002t0015g0220 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.54+2724A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127252 | |||||||
chr17:64127269 | A | T | 18 | a0001c0001t0002g0192 a0001c0001t0003g0182 a0001c0001t0003g0183 others(15): Show |
18 | HG00408.hp2 HG00673.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.54+2707T>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127269 | |||||||
chr17:64127393 | G | T | 4 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 others(1): Show |
4 | NA18957.hp2 NA18967.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.54+2583C>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127393 | |||||||
chr17:64127619 | T | G | 2 | a0005c0012t0037g0227 a0005c0012t0038g0228 |
2 | HG02451.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.54+2357A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127619 | |||||||
chr17:64127657 | G | C | 1 | a0001c0002t0001g0125 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.54+2319C>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127657 | |||||||
chr17:64127741 | C | T | 1 | a0001c0002t0001g0003 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.54+2235G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127741 | |||||||
chr17:64127742 | G | A | 7 | a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 others(4): Show |
7 | HG02145.hp1 HG02257.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.54+2234C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127742 | |||||||
chr17:64127757 | C | CA | 40 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(37): Show |
43 | HG01099.hp1 HG01106.hp1 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.54+2218dupT | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127757 | |||||||
chr17:64127757 | C | CAA | 5 | a0001c0001t0009g0132 a0001c0002t0001g0006 a0001c0002t0006g0027 others(2): Show |
5 | HG02572.hp1 HG02622.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.54+2217_54+2218dup others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127757 | |||||||
chr17:64127791 | T | C | 7 | a0001c0002t0013g0203 a0001c0002t0013g0205 a0001c0003t0004g0004 others(4): Show |
8 | HG01069.hp2 HG01071.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.54+2185A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127791 | |||||||
chr17:64127910 | CTA | C | 17 | a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0006g0166 others(14): Show |
17 | HG00733.hp2 HG01081.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.54+2064_54+2065del others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127910 | |||||||
chr17:64127984 | C | G | 1 | a0001c0002t0001g0019 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.54+1992G>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64127984 | |||||||
chr17:64128007 | C | CT | 21 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(18): Show |
24 | HG01099.hp1 HG01106.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.54+1968dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128007 | |||||||
chr17:64128143 | C | T | 13 | a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0025 others(10): Show |
14 | HG01106.hp1 HG01255.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.54+1833G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128143 | |||||||
chr17:64128161 | A | AT | 25 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(22): Show |
25 | HG00408.hp2 HG00673.hp1 HG00738.hp2 others(22): Show |
intron_variant | MODIFIER | c.54+1814dupA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128161 | |||||||
chr17:64128161 | A | ATT | 12 | a0001c0001t0003g0150 a0001c0003t0004g0142 a0001c0003t0004g0144 others(9): Show |
12 | HG01934.hp1 HG02572.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.54+1813_54+1814dup others(2): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128161 | |||||||
chr17:64128161 | AT | A | 17 | a0001c0001t0003g0209 a0001c0001t0003g0224 a0001c0002t0001g0133 others(14): Show |
19 | HG00280.hp1 HG01081.hp1 HG01099.hp1 others(16): Show |
intron_variant | MODIFIER | c.54+1814delA | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128161 | |||||||
chr17:64128260 | C | T | 3 | a0001c0004t0018g0162 a0001c0004t0035g0164 a0001c0004t0036g0163 |
3 | HG01891.hp2 HG02818.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.54+1716G>A | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128260 | |||||||
chr17:64128301 | G | A | 1 | a0001c0002t0001g0138 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.54+1675C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128301 | |||||||
chr17:64128394 | T | C | 1 | a0001c0001t0002g0140 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.54+1582A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128394 | |||||||
chr17:64128394 | T | G | 1 | a0001c0001t0002g0139 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.54+1582A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128394 | |||||||
chr17:64128414 | T | G | 17 | a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0006g0166 others(14): Show |
17 | HG00733.hp2 HG01081.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.54+1562A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128414 | |||||||
chr17:64128654 | T | C | 20 | a0001c0001t0003g0150 a0001c0002t0001g0155 a0001c0002t0039g0229 others(17): Show |
20 | HG01243.hp2 HG01884.hp1 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.54+1322A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128654 | |||||||
chr17:64128939 | T | C | 2 | a0001c0001t0003g0161 a0001c0001t0028g0160 |
2 | HG00738.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.54+1037A>G | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64128939 | |||||||
chr17:64129007 | G | A | 19 | a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0006g0166 others(16): Show |
19 | HG00733.hp2 HG01081.hp1 HG01109.hp2 others(16): Show |
intron_variant | MODIFIER | c.54+969C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64129007 | |||||||
chr17:64129078 | G | A | 31 | a0001c0001t0002g0192 a0001c0001t0003g0182 a0001c0001t0003g0183 others(28): Show |
32 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.54+898C>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64129078 | |||||||
chr17:64129247 | T | A | 7 | a0001c0001t0002g0211 a0001c0002t0001g0217 a0001c0002t0010g0212 others(4): Show |
7 | HG01167.hp2 HG02280.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.54+729A>T | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64129247 | |||||||
chr17:64129737 | T | G | 10 | a0001c0001t0003g0224 a0001c0002t0015g0219 a0001c0002t0015g0220 others(7): Show |
12 | HG01099.hp1 HG01891.hp1 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.54+239A>C | ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | 64129737 |