Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2036 |
| ensemblid | ENSG00000088367.23 |
| hgncid | 3378 |
| symbol | EPB41L1 |
| name | erythrocyte membrane protein band 4.1 like 1 |
| refseq_nuc | NM_012156.2 |
| refseq_prot | NP_036288.2 |
| ensembl_nuc | ENST00000338074.7 |
| ensembl_prot | ENSP00000337168.2 |
| mane_status | MANE Select |
| chr | chr20 |
| start | 36154740 |
| end | 36232799 |
| strand | + |
| ver | v1.2 |
| region | chr20:36154740-36232799 |
| region5000 | chr20:36149740-36237799 |
| regionname0 | EPB41L1_chr20_36154740_36232799 |
| regionname5000 | EPB41L1_chr20_36149740_36237799 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 881 | 233 | 88 | 46 | 70 | 9 | 18 | 53 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | MTTET others(876): Show |
chr20 | 36149740 | 36237799 |
| a0002 | 0/0 | 881 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | MTTET others(876): Show |
chr20 | 36149740 | 36237799 |
| a0003 | 0/0 | 881 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | MTTET others(876): Show |
chr20 | 36149740 | 36237799 |
| a0004 | 0/0 | 881 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | MTTET others(876): Show |
chr20 | 36149740 | 36237799 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2643 | 166 | 50 | 36 | 52 | 9 | 17 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0002 | 0/0 | 2643 | 39 | 15 | 6 | 18 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0003 | 0/0 | 2643 | 10 | 8 | 2 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0004 | 0/0 | 2643 | 4 | 3 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0005 | 0/0 | 2643 | 4 | 3 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0006 | 0/0 | 2643 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0007 | 0/0 | 2643 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0008 | 0/0 | 2643 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0011 | 0/0 | 2643 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0012 | 0/0 | 2643 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0013 | 0/0 | 2643 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0001c0014 | 0/0 | 2643 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0002c0010 | 0/0 | 2643 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0003c0009 | 0/0 | 2643 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 | ||
| a0004c0015 | 0/0 | 2643 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | ATGAC others(2638): Show |
chr20 | 36149740 | 36237799 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 6276 | 91 | 17 | 22 | 40 | 4 | 6 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0002 | 0/0 | 6276 | 37 | 12 | 7 | 11 | 2 | 5 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0003 | 0/0 | 6276 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0004 | 0/0 | 6276 | 19 | 15 | 4 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0005 | 0/0 | 6276 | 9 | 0 | 1 | 0 | 2 | 6 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0013 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0014 | 0/0 | 6276 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0015 | 0/0 | 6276 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0016 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0017 | 0/0 | 6276 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0018 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0001t0020 | 0/0 | 6276 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0003 | 0/0 | 6276 | 22 | 1 | 6 | 15 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0005 | 0/0 | 6276 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0006 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0007 | 0/0 | 6276 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0009 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0010 | 0/0 | 6274 | 5 | 5 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6269): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0011 | 0/0 | 6276 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0012 | 0/0 | 6276 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0021 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0022 | 0/0 | 6276 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0002t0023 | 0/0 | 6276 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0003t0006 | 0/0 | 6276 | 9 | 7 | 2 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0003t0024 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0004t0009 | 0/0 | 6276 | 4 | 3 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0005t0008 | 0/0 | 6275 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6270): Show |
chr20 | 36149740 | 36237799 |
| a0001c0005t0019 | 0/0 | 6276 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0006t0007 | 0/0 | 6276 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0007t0008 | 0/0 | 6275 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6270): Show |
chr20 | 36149740 | 36237799 |
| a0001c0008t0008 | 0/0 | 6275 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6270): Show |
chr20 | 36149740 | 36237799 |
| a0001c0011t0004 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0012t0011 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0013t0007 | 0/0 | 6276 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0001c0014t0001 | 0/0 | 6276 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0002c0010t0001 | 0/0 | 6276 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0003c0009t0001 | 0/0 | 6276 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| a0004c0015t0001 | 0/0 | 6276 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | AGTCG others(6271): Show |
chr20 | 36149740 | 36237799 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 9 | 0 | 5 | 0 | 2 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0002 | 0/0 | 5 | 0 | 1 | 4 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0022 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0023 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0024 | 0/0 | 2 | 1 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0158 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0015 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0016 | 0/0 | 2 | 1 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0017 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0018 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0002g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0003g0027 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0003g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0008 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0019 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0020 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0004g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0005g0003 | 0/0 | 4 | 0 | 1 | 0 | 2 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0005g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0005g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0005g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0005g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0005g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0013g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0014g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0015g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0016g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0017g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0018g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0001t0020g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0011 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0005g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0006g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0007g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0009g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0010g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0010g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0010g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0010g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0011g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0011g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0012g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0012g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0021g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0022g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0002t0023g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0026 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0006g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0003t0024g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0004t0009g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0004t0009g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0004t0009g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0004t0009g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0005t0008g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0005t0008g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0005t0008g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0005t0019g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0006t0007g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0006t0007g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0006t0007g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0007t0008g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0007t0008g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0008t0008g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0011t0004g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0012t0011g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0013t0007g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0001c0014t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0002c0010t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0003c0009t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| a0004c0015t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0155 | EUR | GBR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0017 | EUR | GBR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0024 | EUR | GBR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00140 | hp2 | a0002 | c0010 | t0001 | g0168 | EUR | GBR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | CHS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00423 | hp2 | a0001 | c0002 | t0003 | g0013 | EAS | CHS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0112 | EAS | CHS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | CHS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00558 | hp1 | a0003 | c0009 | t0001 | g0002 | EAS | CHS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00558 | hp2 | a0001 | c0002 | t0003 | g0070 | EAS | CHS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0094 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0126 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0169 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00733 | hp1 | a0001 | c0001 | t0002 | g0101 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0127 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG00738 | hp2 | a0001 | c0001 | t0004 | g0008 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01069 | hp2 | a0001 | c0002 | t0003 | g0009 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01070 | hp1 | a0001 | c0002 | t0003 | g0009 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01070 | hp2 | a0001 | c0001 | t0020 | g0181 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01074 | hp2 | a0001 | c0001 | t0005 | g0003 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01081 | hp2 | a0001 | c0003 | t0006 | g0179 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01109 | hp1 | a0001 | c0002 | t0003 | g0061 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01109 | hp2 | a0001 | c0004 | t0009 | g0054 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01167 | hp1 | a0001 | c0001 | t0004 | g0008 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01167 | hp2 | a0001 | c0001 | t0015 | g0098 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01169 | hp1 | a0001 | c0001 | t0004 | g0008 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01175 | hp2 | a0001 | c0002 | t0003 | g0059 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01243 | hp2 | a0001 | c0005 | t0019 | g0110 | AMR | PUR | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01256 | hp1 | a0001 | c0001 | t0002 | g0178 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0174 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0176 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01261 | hp2 | a0001 | c0003 | t0006 | g0188 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0100 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01361 | hp2 | a0001 | c0001 | t0004 | g0116 | AMR | CLM | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01515 | hp2 | a0001 | c0001 | t0005 | g0003 | EUR | IBS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01517 | hp1 | a0001 | c0001 | t0005 | g0003 | EUR | IBS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01517 | hp2 | a0001 | c0001 | t0014 | g0002 | EUR | IBS | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01884 | hp1 | a0001 | c0002 | t0010 | g0087 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01884 | hp2 | a0001 | c0001 | t0018 | g0021 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0107 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0029 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0160 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01952 | hp2 | a0001 | c0002 | t0003 | g0011 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0134 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02004 | hp1 | a0001 | c0002 | t0003 | g0058 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02027 | hp1 | a0001 | c0002 | t0003 | g0049 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02080 | hp1 | a0001 | c0001 | t0017 | g0001 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02080 | hp2 | a0001 | c0002 | t0003 | g0068 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0096 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02145 | hp2 | a0001 | c0002 | t0012 | g0125 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0111 | AMR | PEL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02257 | hp1 | a0001 | c0001 | t0004 | g0122 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02257 | hp2 | a0001 | c0001 | t0002 | g0103 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0016 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02280 | hp1 | a0001 | c0002 | t0012 | g0124 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02451 | hp1 | a0001 | c0007 | t0008 | g0037 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0015 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0131 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02572 | hp2 | a0001 | c0007 | t0008 | g0036 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02615 | hp1 | a0001 | c0001 | t0004 | g0019 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02615 | hp2 | a0001 | c0001 | t0004 | g0117 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02622 | hp1 | a0001 | c0003 | t0006 | g0026 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02622 | hp2 | a0001 | c0001 | t0004 | g0114 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02630 | hp2 | a0001 | c0006 | t0007 | g0032 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02717 | hp1 | a0001 | c0001 | t0004 | g0123 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02717 | hp2 | a0001 | c0002 | t0021 | g0039 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02723 | hp1 | a0001 | c0002 | t0006 | g0038 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02723 | hp2 | a0001 | c0001 | t0013 | g0118 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02735 | hp1 | a0001 | c0001 | t0005 | g0043 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0071 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0081 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0165 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02809 | hp2 | a0001 | c0003 | t0006 | g0185 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02818 | hp1 | a0001 | c0002 | t0010 | g0086 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0156 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02886 | hp1 | a0001 | c0013 | t0007 | g0035 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02886 | hp2 | a0001 | c0001 | t0004 | g0019 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0090 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02895 | hp2 | a0001 | c0001 | t0003 | g0027 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0132 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02896 | hp2 | a0001 | c0002 | t0010 | g0014 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02897 | hp1 | a0001 | c0001 | t0003 | g0183 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02897 | hp2 | a0001 | c0002 | t0010 | g0014 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02922 | hp1 | a0001 | c0002 | t0009 | g0063 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02965 | hp2 | a0001 | c0001 | t0002 | g0108 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02970 | hp2 | a0001 | c0001 | t0004 | g0007 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02976 | hp1 | a0001 | c0005 | t0008 | g0048 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02976 | hp2 | a0001 | c0001 | t0004 | g0007 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0109 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0150 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03041 | hp1 | a0001 | c0001 | t0016 | g0130 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03041 | hp2 | a0001 | c0001 | t0004 | g0113 | AFR | GWD | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03098 | hp1 | a0001 | c0003 | t0006 | g0187 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03098 | hp2 | a0001 | c0001 | t0004 | g0120 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03130 | hp1 | a0001 | c0011 | t0004 | g0119 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03130 | hp2 | a0001 | c0002 | t0011 | g0040 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0095 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03139 | hp2 | a0001 | c0001 | t0003 | g0027 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0105 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03195 | hp2 | a0001 | c0004 | t0009 | g0052 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03209 | hp1 | a0001 | c0003 | t0006 | g0186 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03209 | hp2 | a0001 | c0001 | t0004 | g0121 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03225 | hp1 | a0001 | c0006 | t0007 | g0034 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03225 | hp2 | a0001 | c0001 | t0002 | g0015 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0093 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0129 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03486 | hp1 | a0001 | c0003 | t0006 | g0182 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03486 | hp2 | a0001 | c0001 | t0004 | g0007 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03490 | hp1 | a0001 | c0001 | t0005 | g0044 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03491 | hp1 | a0001 | c0001 | t0002 | g0016 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03491 | hp2 | a0001 | c0001 | t0005 | g0046 | SAS | PJL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03516 | hp1 | a0001 | c0002 | t0007 | g0010 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03516 | hp2 | a0001 | c0003 | t0006 | g0026 | AFR | ESN | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0102 | SAS | BEB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0177 | SAS | BEB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0104 | SAS | STU | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG04199 | hp2 | a0001 | c0001 | t0005 | g0045 | SAS | STU | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0147 | SAS | STU | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG04204 | hp2 | a0001 | c0001 | t0005 | g0047 | SAS | STU | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG04228 | hp1 | a0001 | c0014 | t0001 | g0154 | SAS | STU | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG04228 | hp2 | a0001 | c0001 | t0005 | g0003 | SAS | STU | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18522 | hp1 | a0001 | c0006 | t0007 | g0033 | AFR | YRI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18522 | hp2 | a0001 | c0001 | t0004 | g0020 | AFR | YRI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | CHB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0018 | EAS | CHB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18906 | hp1 | a0001 | c0004 | t0009 | g0053 | AFR | YRI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18906 | hp2 | a0001 | c0001 | t0004 | g0020 | AFR | YRI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18943 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0074 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18949 | hp1 | a0001 | c0002 | t0003 | g0062 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18950 | hp1 | a0001 | c0002 | t0003 | g0065 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18951 | hp2 | a0001 | c0002 | t0023 | g0066 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18952 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18959 | hp2 | a0001 | c0002 | t0003 | g0012 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18965 | hp1 | a0001 | c0002 | t0003 | g0057 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18966 | hp1 | a0001 | c0001 | t0002 | g0018 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18969 | hp1 | a0001 | c0002 | t0022 | g0067 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18977 | hp2 | a0001 | c0001 | t0002 | g0076 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18984 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18986 | hp2 | a0004 | c0015 | t0001 | g0157 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18993 | hp1 | a0001 | c0002 | t0003 | g0012 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18999 | hp1 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19007 | hp1 | a0001 | c0002 | t0003 | g0013 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19011 | hp2 | a0001 | c0002 | t0003 | g0064 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19030 | hp1 | a0001 | c0008 | t0008 | g0042 | AFR | LWK | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19030 | hp2 | a0001 | c0003 | t0006 | g0184 | AFR | LWK | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19064 | hp1 | a0001 | c0001 | t0002 | g0075 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19065 | hp1 | a0001 | c0002 | t0005 | g0060 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19076 | hp2 | a0001 | c0002 | t0003 | g0069 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19079 | hp1 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19081 | hp2 | a0001 | c0002 | t0003 | g0050 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19088 | hp2 | a0001 | c0002 | t0003 | g0056 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19090 | hp1 | a0001 | c0002 | t0003 | g0055 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19240 | hp1 | a0001 | c0002 | t0007 | g0010 | AFR | YRI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA19240 | hp2 | a0001 | c0003 | t0024 | g0180 | AFR | YRI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0017 | EUR | TSI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02109 | hp1 | a0001 | c0001 | t0002 | g0097 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02109 | hp2 | a0001 | c0001 | t0004 | g0115 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02486 | hp2 | a0001 | c0005 | t0008 | g0030 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02559 | hp1 | a0001 | c0005 | t0008 | g0031 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG02559 | hp2 | a0001 | c0002 | t0010 | g0088 | AFR | ACB | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03471 | hp1 | a0001 | c0001 | t0002 | g0099 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG03471 | hp2 | a0001 | c0002 | t0011 | g0189 | AFR | MSL | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | USA | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | USA | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | USA | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA20300 | hp2 | a0001 | c0002 | t0003 | g0011 | AFR | USA | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA21309 | hp1 | a0001 | c0004 | t0009 | g0051 | AFR | LWK | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| NA21309 | hp2 | a0001 | c0012 | t0011 | g0041 | AFR | LWK | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0158 | REF | REF | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | EPB41L1_chr20_36149740_36237799 | EPB41L1 | chr20 | 36149740 | 36237799 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr20:36173812 | A | G | 1 | a0004 | 1 | NA18986.hp2 | missense_variant | MODERATE | c.35A>G | p.Lys12Arg | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/22 | 206/6276 | 35/2646 | 12/881 | chr20 | 36173812 | |||
| chr20:36209753 | G | A | 1 | a0003 | 1 | HG00558.hp1 | missense_variant | MODERATE | c.1934G>A | p.Arg645Gln | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/22 | 2105/6276 | 1934/2646 | 645/881 | chr20 | 36209753 | |||
| chr20:36209879 | C | T | 1 | a0002 | 1 | HG00140.hp2 | missense_variant | MODERATE | c.2060C>T | p.Pro687Leu | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/22 | 2231/6276 | 2060/2646 | 687/881 | chr20 | 36209879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr20:36178026 | C | T | 1 | a0001c0014 | 1 | HG04228.hp1 | synonymous_variant | LOW | c.417C>T | p.Gly139Gly | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/22 | 588/6276 | 417/2646 | 139/881 | chr20 | 36178026 | |||
| chr20:36182336 | A | G | 3 | a0001c0006 a0001c0012 a0001c0013 |
5 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(2): Show |
synonymous_variant | LOW | c.555A>G | p.Glu185Glu | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/22 | 726/6276 | 555/2646 | 185/881 | chr20 | 36182336 | |||
| chr20:36185132 | G | C | 1 | a0001c0003 | 10 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(7): Show |
synonymous_variant | LOW | c.582G>C | p.Leu194Leu | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/22 | 753/6276 | 582/2646 | 194/881 | chr20 | 36185132 | |||
| chr20:36190694 | C | T | 1 | a0001c0011 | 1 | HG03130.hp1 | synonymous_variant | LOW | c.1197C>T | p.Thr399Thr | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/22 | 1368/6276 | 1197/2646 | 399/881 | chr20 | 36190694 | |||
| chr20:36194234 | G | A | 1 | a0001c0004 | 4 | HG01109.hp2 HG03195.hp2 NA18906.hp1 others(1): Show |
synonymous_variant | LOW | c.1323G>A | p.Ser441Ser | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/22 | 1494/6276 | 1323/2646 | 441/881 | chr20 | 36194234 | |||
| chr20:36194249 | T | C | 8 | a0001c0002 a0001c0003 a0001c0004 others(5): Show |
63 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(60): Show |
synonymous_variant | LOW | c.1338T>C | p.His446His | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/22 | 1509/6276 | 1338/2646 | 446/881 | chr20 | 36194249 | |||
| chr20:36195346 | G | A | 1 | a0001c0012 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.1467G>A | p.Thr489Thr | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/22 | 1638/6276 | 1467/2646 | 489/881 | chr20 | 36195346 | |||
| chr20:36209688 | G | A | 5 | a0001c0005 a0001c0007 a0001c0008 others(2): Show |
9 | HG01243.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
synonymous_variant | LOW | c.1869G>A | p.Thr623Thr | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/22 | 2040/6276 | 1869/2646 | 623/881 | chr20 | 36209688 | |||
| chr20:36209832 | G | A | 1 | a0001c0008 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.2013G>A | p.Glu671Glu | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/22 | 2184/6276 | 2013/2646 | 671/881 | chr20 | 36209832 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr20:36154884 | A | C | 22 | a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 others(19): Show |
75 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(72): Show |
5_prime_UTR_variant | MODIFIER | c.-27A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/22 | 18894 | chr20 | 36154884 | ||||||
| chr20:36229536 | A | G | 14 | a0001c0001t0004 a0001c0002t0007 a0001c0002t0009 others(11): Show |
46 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*196A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 196 | chr20 | 36229536 | ||||||
| chr20:36229623 | T | C | 7 | a0001c0001t0004 a0001c0001t0013 a0001c0001t0020 others(4): Show |
28 | HG00738.hp2 HG01070.hp2 HG01167.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*283T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 283 | chr20 | 36229623 | ||||||
| chr20:36229699 | G | A | 2 | a0001c0002t0009 a0001c0004t0009 |
5 | HG01109.hp2 HG02922.hp1 HG03195.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*359G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 359 | chr20 | 36229699 | ||||||
| chr20:36229915 | T | G | 1 | a0001c0001t0014 | 1 | HG01517.hp2 | 3_prime_UTR_variant | MODIFIER | c.*575T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 575 | chr20 | 36229915 | ||||||
| chr20:36230003 | C | T | 1 | a0001c0003t0024 | 1 | NA19240.hp2 | 3_prime_UTR_variant | MODIFIER | c.*663C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 663 | chr20 | 36230003 | ||||||
| chr20:36230094 | T | C | 14 | a0001c0001t0004 a0001c0002t0007 a0001c0002t0009 others(11): Show |
46 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*754T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 754 | chr20 | 36230094 | ||||||
| chr20:36230764 | CTT | C | 1 | a0001c0002t0010 | 5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1426_*1427delTT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 1426 | INFO_REALIGN_3_PRIME | chr20 | 36230764 | |||||
| chr20:36230772 | C | T | 1 | a0001c0002t0010 | 5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1432C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 1432 | chr20 | 36230772 | ||||||
| chr20:36230803 | C | G | 1 | a0001c0002t0023 | 1 | NA18951.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1463C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 1463 | chr20 | 36230803 | ||||||
| chr20:36230908 | A | C | 3 | a0001c0002t0006 a0001c0003t0006 a0001c0003t0024 |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1568A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 1568 | chr20 | 36230908 | ||||||
| chr20:36231027 | C | G | 1 | a0001c0002t0010 | 5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1687C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 1687 | chr20 | 36231027 | ||||||
| chr20:36231230 | C | T | 1 | a0001c0002t0022 | 1 | NA18969.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1890C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 1890 | chr20 | 36231230 | ||||||
| chr20:36231655 | T | C | 1 | a0001c0002t0021 | 1 | HG02717.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2315T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2315 | chr20 | 36231655 | ||||||
| chr20:36231987 | C | T | 1 | a0001c0002t0010 | 5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2647C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2647 | chr20 | 36231987 | ||||||
| chr20:36231997 | T | C | 25 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show |
125 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(122): Show |
3_prime_UTR_variant | MODIFIER | c.*2657T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2657 | chr20 | 36231997 | ||||||
| chr20:36232069 | C | T | 1 | a0001c0001t0020 | 1 | HG01070.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2729C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2729 | chr20 | 36232069 | ||||||
| chr20:36232090 | CT | C | 3 | a0001c0005t0008 a0001c0007t0008 a0001c0008t0008 |
6 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2752delT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2752 | INFO_REALIGN_3_PRIME | chr20 | 36232090 | |||||
| chr20:36232134 | G | A | 1 | a0001c0001t0020 | 1 | HG01070.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2794G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2794 | chr20 | 36232134 | ||||||
| chr20:36232288 | A | G | 1 | a0001c0002t0010 | 5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2948A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 2948 | chr20 | 36232288 | ||||||
| chr20:36232367 | C | A | 3 | a0001c0002t0006 a0001c0003t0006 a0001c0003t0024 |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3027C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 3027 | chr20 | 36232367 | ||||||
| chr20:36232393 | G | A | 1 | a0001c0001t0016 | 1 | HG03041.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3053G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 3053 | chr20 | 36232393 | ||||||
| chr20:36232543 | G | A | 1 | a0001c0001t0017 | 1 | HG02080.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3203G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 3203 | chr20 | 36232543 | ||||||
| chr20:36232568 | A | G | 1 | a0001c0001t0018 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3228A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 3228 | chr20 | 36232568 | ||||||
| chr20:36232725 | C | T | 6 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(3): Show |
65 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(62): Show |
3_prime_UTR_variant | MODIFIER | c.*3385C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 3385 | chr20 | 36232725 | ||||||
| chr20:36232777 | A | C | 1 | a0001c0001t0015 | 1 | HG01167.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3437A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 22/22 | 3437 | chr20 | 36232777 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr20:36154979 | G | A | 1 | a0001c0001t0001g0028 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-15+83G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36154979 | |||||||
| chr20:36155032 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-15+136G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36155032 | |||||||
| chr20:36155242 | G | C | 20 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(17): Show |
23 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(20): Show |
intron_variant | MODIFIER | c.-15+346G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36155242 | |||||||
| chr20:36155437 | T | A | 27 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(24): Show |
32 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.-15+541T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36155437 | |||||||
| chr20:36155556 | G | C | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-15+660G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36155556 | |||||||
| chr20:36155562 | G | A | 1 | a0001c0001t0002g0071 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-15+666G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36155562 | |||||||
| chr20:36155914 | C | G | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-15+1018C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36155914 | |||||||
| chr20:36156000 | T | C | 20 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(17): Show |
23 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(20): Show |
intron_variant | MODIFIER | c.-15+1104T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36156000 | |||||||
| chr20:36156023 | C | T | 8 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(5): Show |
11 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
intron_variant | MODIFIER | c.-15+1127C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36156023 | |||||||
| chr20:36156465 | G | A | 1 | a0001c0002t0003g0049 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-15+1569G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36156465 | |||||||
| chr20:36156481 | T | G | 2 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | HG01891.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.-15+1585T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36156481 | |||||||
| chr20:36156573 | C | T | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-15+1677C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36156573 | |||||||
| chr20:36156963 | C | T | 47 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(44): Show |
54 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(51): Show |
intron_variant | MODIFIER | c.-15+2067C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36156963 | |||||||
| chr20:36157173 | G | A | 1 | a0001c0002t0003g0050 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-15+2277G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36157173 | |||||||
| chr20:36157240 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+2344G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36157240 | |||||||
| chr20:36157470 | C | T | 4 | a0001c0003t0006g0185 a0001c0003t0006g0186 a0001c0003t0006g0187 others(1): Show |
4 | HG01261.hp2 HG02809.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+2574C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36157470 | |||||||
| chr20:36157634 | A | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-15+2738A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36157634 | |||||||
| chr20:36157997 | T | G | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+3101T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36157997 | |||||||
| chr20:36158025 | C | T | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-15+3129C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158025 | |||||||
| chr20:36158052 | A | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-15+3156A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158052 | |||||||
| chr20:36158073 | C | A | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+3177C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158073 | |||||||
| chr20:36158128 | T | C | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+3232T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158128 | |||||||
| chr20:36158404 | C | T | 1 | a0001c0001t0002g0178 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.-15+3508C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158404 | |||||||
| chr20:36158438 | C | T | 1 | a0001c0001t0001g0177 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-15+3542C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158438 | |||||||
| chr20:36158439 | G | A | 3 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 |
3 | NA18947.hp2 NA18977.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.-15+3543G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158439 | |||||||
| chr20:36158596 | A | G | 4 | a0001c0002t0011g0040 a0001c0002t0021g0039 a0001c0005t0008g0030 others(1): Show |
4 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-15+3700A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158596 | |||||||
| chr20:36158673 | G | A | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-15+3777G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158673 | |||||||
| chr20:36158755 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0002g0074 a0001c0001t0002g0075 others(1): Show |
4 | HG02015.hp1 NA18947.hp2 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.-15+3859G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158755 | |||||||
| chr20:36158873 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-15+3977C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158873 | |||||||
| chr20:36158881 | C | T | 27 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(24): Show |
32 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.-15+3985C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158881 | |||||||
| chr20:36158904 | T | C | 125 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(122): Show |
152 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(149): Show |
intron_variant | MODIFIER | c.-15+4008T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36158904 | |||||||
| chr20:36159048 | G | A | 1 | a0001c0003t0006g0179 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.-15+4152G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159048 | |||||||
| chr20:36159131 | A | G | 4 | a0001c0002t0011g0040 a0001c0002t0021g0039 a0001c0005t0008g0030 others(1): Show |
4 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-15+4235A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159131 | |||||||
| chr20:36159152 | T | C | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+4256T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159152 | |||||||
| chr20:36159527 | G | A | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-15+4631G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159527 | |||||||
| chr20:36159585 | C | T | 1 | a0001c0001t0001g0128 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-15+4689C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159585 | |||||||
| chr20:36159772 | ACAGAGAG others(5): Show |
A | 1 | a0001c0001t0002g0127 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-15+4880_-15+4891d others(14): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36159772 | ||||||
| chr20:36159886 | G | A | 133 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 others(130): Show |
160 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(157): Show |
intron_variant | MODIFIER | c.-15+4990G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159886 | |||||||
| chr20:36159902 | T | A | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+5006T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36159902 | |||||||
| chr20:36160345 | A | G | 1 | a0001c0001t0002g0126 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-15+5449A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160345 | |||||||
| chr20:36160409 | C | A | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+5513C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160409 | |||||||
| chr20:36160442 | G | A | 6 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0021g0039 others(3): Show |
6 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.-15+5546G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160442 | |||||||
| chr20:36160509 | C | T | 1 | a0001c0005t0008g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-15+5613C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160509 | |||||||
| chr20:36160577 | G | A | 12 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(9): Show |
15 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(12): Show |
intron_variant | MODIFIER | c.-15+5681G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160577 | |||||||
| chr20:36160598 | A | G | 8 | a0001c0002t0003g0013 a0001c0002t0003g0049 a0001c0002t0003g0065 others(5): Show |
9 | HG00423.hp2 HG00558.hp2 HG02027.hp1 others(6): Show |
intron_variant | MODIFIER | c.-15+5702A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160598 | |||||||
| chr20:36160992 | A | G | 6 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0021g0039 others(3): Show |
6 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.-15+6096A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36160992 | |||||||
| chr20:36161036 | C | T | 1 | a0001c0002t0003g0064 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-15+6140C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161036 | |||||||
| chr20:36161189 | A | C | 8 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(5): Show |
11 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
intron_variant | MODIFIER | c.-15+6293A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161189 | |||||||
| chr20:36161362 | G | T | 4 | a0001c0001t0001g0021 a0001c0001t0001g0131 a0001c0001t0001g0132 others(1): Show |
4 | HG01884.hp2 HG02572.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+6466G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161362 | |||||||
| chr20:36161629 | C | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-15+6733C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161629 | |||||||
| chr20:36161686 | G | T | 17 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(14): Show |
23 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.-15+6790G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161686 | |||||||
| chr20:36161761 | G | A | 8 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(5): Show |
11 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
intron_variant | MODIFIER | c.-15+6865G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161761 | |||||||
| chr20:36161930 | T | G | 6 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0021g0039 others(3): Show |
6 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.-15+7034T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161930 | |||||||
| chr20:36161931 | G | C | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-15+7035G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36161931 | |||||||
| chr20:36162044 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+7148G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162044 | |||||||
| chr20:36162142 | G | A | 1 | a0001c0001t0002g0004 | 3 | NA18943.hp2 NA18952.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.-15+7246G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162142 | |||||||
| chr20:36162147 | C | T | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-15+7251C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162147 | |||||||
| chr20:36162190 | A | G | 1 | a0001c0001t0001g0175 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.-15+7294A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162190 | |||||||
| chr20:36162441 | C | G | 35 | a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0090 others(32): Show |
43 | HG00099.hp2 HG00544.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.-15+7545C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162441 | |||||||
| chr20:36162465 | G | T | 1 | a0001c0002t0011g0040 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-15+7569G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162465 | |||||||
| chr20:36162587 | G | C | 8 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(5): Show |
10 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.-15+7691G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162587 | |||||||
| chr20:36162781 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.-15+7885C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162781 | |||||||
| chr20:36162828 | G | A | 8 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(5): Show |
11 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
intron_variant | MODIFIER | c.-15+7932G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162828 | |||||||
| chr20:36162948 | G | A | 4 | a0001c0004t0009g0051 a0001c0004t0009g0052 a0001c0004t0009g0053 others(1): Show |
4 | HG01109.hp2 HG03195.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-15+8052G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36162948 | |||||||
| chr20:36163129 | G | GT | 33 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(30): Show |
39 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.-15+8248dupT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36163129 | ||||||
| chr20:36163129 | GT | G | 54 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(51): Show |
67 | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(64): Show |
intron_variant | MODIFIER | c.-15+8248delT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36163129 | ||||||
| chr20:36163182 | T | C | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-15+8286T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163182 | |||||||
| chr20:36163186 | A | G | 1 | a0001c0001t0002g0178 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.-15+8290A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163186 | |||||||
| chr20:36163216 | G | A | 124 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(121): Show |
150 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(147): Show |
intron_variant | MODIFIER | c.-15+8320G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163216 | |||||||
| chr20:36163254 | T | G | 1 | a0001c0001t0001g0128 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-15+8358T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163254 | |||||||
| chr20:36163454 | G | T | 20 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(17): Show |
23 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(20): Show |
intron_variant | MODIFIER | c.-15+8558G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163454 | |||||||
| chr20:36163457 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+8561G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163457 | |||||||
| chr20:36163664 | G | T | 1 | a0001c0001t0004g0008 | 3 | HG00738.hp2 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-15+8768G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163664 | |||||||
| chr20:36163732 | T | C | 63 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0005g0003 others(60): Show |
73 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(70): Show |
intron_variant | MODIFIER | c.-15+8836T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163732 | |||||||
| chr20:36163818 | A | ATC | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+8929_-15+8930d others(4): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36163818 | ||||||
| chr20:36163871 | T | A | 45 | a0001c0001t0002g0178 a0001c0001t0003g0027 a0001c0001t0003g0183 others(42): Show |
51 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(48): Show |
intron_variant | MODIFIER | c.-15+8975T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163871 | |||||||
| chr20:36163888 | T | C | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-15+8992T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163888 | |||||||
| chr20:36163895 | C | T | 1 | a0001c0001t0002g0076 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.-15+8999C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163895 | |||||||
| chr20:36163901 | G | C | 1 | a0001c0001t0001g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-15+9005G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163901 | |||||||
| chr20:36163942 | C | T | 1 | a0001c0001t0001g0173 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.-15+9046C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163942 | |||||||
| chr20:36163997 | C | T | 2 | a0001c0002t0012g0124 a0001c0002t0012g0125 |
2 | HG02145.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.-15+9101C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36163997 | |||||||
| chr20:36164119 | C | T | 4 | a0001c0002t0011g0040 a0001c0002t0021g0039 a0001c0005t0008g0030 others(1): Show |
4 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-15+9223C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164119 | |||||||
| chr20:36164158 | C | T | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-15+9262C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164158 | |||||||
| chr20:36164264 | A | C | 4 | a0001c0001t0001g0025 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
6 | HG01069.hp2 HG01070.hp1 HG01255.hp2 others(3): Show |
intron_variant | MODIFIER | c.-15+9368A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164264 | |||||||
| chr20:36164391 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-14-9373C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164391 | |||||||
| chr20:36164479 | C | T | 1 | a0001c0001t0001g0169 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.-14-9285C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164479 | |||||||
| chr20:36164571 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-14-9193T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164571 | |||||||
| chr20:36164879 | T | A | 4 | a0001c0004t0009g0051 a0001c0004t0009g0052 a0001c0004t0009g0053 others(1): Show |
4 | HG01109.hp2 HG03195.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14-8885T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36164879 | |||||||
| chr20:36165089 | C | G | 1 | a0001c0002t0009g0063 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-14-8675C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36165089 | |||||||
| chr20:36165272 | G | A | 38 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(35): Show |
44 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.-14-8492G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36165272 | |||||||
| chr20:36165342 | T | C | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14-8422T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36165342 | |||||||
| chr20:36165424 | T | C | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG00423.hp1 HG00544.hp2 |
intron_variant | MODIFIER | c.-14-8340T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36165424 | |||||||
| chr20:36165425 | G | A | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG00423.hp1 HG00544.hp2 |
intron_variant | MODIFIER | c.-14-8339G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36165425 | |||||||
| chr20:36166136 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14-7628G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36166136 | |||||||
| chr20:36166588 | G | A | 53 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0113 others(50): Show |
59 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(56): Show |
intron_variant | MODIFIER | c.-14-7176G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36166588 | |||||||
| chr20:36167230 | C | T | 16 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(13): Show |
22 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.-14-6534C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167230 | |||||||
| chr20:36167308 | G | A | 5 | a0001c0002t0011g0040 a0001c0002t0021g0039 a0001c0005t0008g0030 others(2): Show |
5 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14-6456G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167308 | |||||||
| chr20:36167350 | G | A | 1 | a0001c0001t0001g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14-6414G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167350 | |||||||
| chr20:36167434 | C | T | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-14-6330C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167434 | |||||||
| chr20:36167435 | A | G | 59 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0113 others(56): Show |
68 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(65): Show |
intron_variant | MODIFIER | c.-14-6329A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167435 | |||||||
| chr20:36167478 | G | A | 2 | a0001c0001t0001g0021 a0001c0001t0018g0021 |
2 | HG01884.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.-14-6286G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167478 | |||||||
| chr20:36167683 | G | A | 1 | a0001c0001t0004g0114 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-14-6081G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167683 | |||||||
| chr20:36167694 | T | C | 64 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0113 others(61): Show |
74 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(71): Show |
intron_variant | MODIFIER | c.-14-6070T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167694 | |||||||
| chr20:36167880 | G | A | 1 | a0001c0001t0001g0072 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-14-5884G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167880 | |||||||
| chr20:36167887 | G | A | 4 | a0001c0002t0011g0040 a0001c0002t0021g0039 a0001c0005t0008g0030 others(1): Show |
4 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14-5877G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167887 | |||||||
| chr20:36167893 | T | G | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14-5871T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167893 | |||||||
| chr20:36167902 | G | C | 1 | a0001c0001t0001g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14-5862G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167902 | |||||||
| chr20:36167939 | A | G | 39 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0113 others(36): Show |
45 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.-14-5825A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167939 | |||||||
| chr20:36167962 | A | G | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-14-5802A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36167962 | |||||||
| chr20:36168005 | C | T | 74 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0007 others(71): Show |
87 | HG00423.hp2 HG00558.hp2 HG00738.hp2 others(84): Show |
intron_variant | MODIFIER | c.-14-5759C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168005 | |||||||
| chr20:36168278 | A | G | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14-5486A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168278 | |||||||
| chr20:36168357 | C | G | 1 | a0001c0001t0001g0174 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.-14-5407C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168357 | |||||||
| chr20:36168593 | C | T | 1 | a0001c0001t0004g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-14-5171C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168593 | |||||||
| chr20:36168822 | T | G | 109 | a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0089 others(106): Show |
130 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(127): Show |
intron_variant | MODIFIER | c.-14-4942T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168822 | |||||||
| chr20:36168860 | C | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-14-4904C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168860 | |||||||
| chr20:36168916 | T | C | 1 | a0001c0001t0005g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-14-4848T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36168916 | |||||||
| chr20:36169043 | T | C | 9 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(6): Show |
11 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(8): Show |
intron_variant | MODIFIER | c.-14-4721T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169043 | |||||||
| chr20:36169119 | G | A | 41 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0113 others(38): Show |
47 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(44): Show |
intron_variant | MODIFIER | c.-14-4645G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169119 | |||||||
| chr20:36169181 | C | T | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14-4583C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169181 | |||||||
| chr20:36169221 | C | CA | 7 | a0001c0001t0001g0174 a0001c0002t0003g0055 a0001c0005t0008g0048 others(4): Show |
7 | HG01256.hp2 HG02630.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-14-4525dupA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36169221 | ||||||
| chr20:36169335 | C | G | 1 | a0001c0001t0001g0132 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-14-4429C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169335 | |||||||
| chr20:36169497 | TC | T | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(115): Show |
141 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(138): Show |
intron_variant | MODIFIER | c.-14-4264delC | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36169497 | ||||||
| chr20:36169500 | C | T | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(115): Show |
141 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(138): Show |
intron_variant | MODIFIER | c.-14-4264C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169500 | |||||||
| chr20:36169501 | A | T | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(115): Show |
141 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(138): Show |
intron_variant | MODIFIER | c.-14-4263A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169501 | |||||||
| chr20:36169518 | C | T | 2 | a0001c0005t0008g0048 a0001c0008t0008g0042 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-14-4246C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169518 | |||||||
| chr20:36169536 | C | G | 1 | a0001c0001t0005g0047 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-14-4228C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169536 | |||||||
| chr20:36169578 | C | T | 52 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(49): Show |
58 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(55): Show |
intron_variant | MODIFIER | c.-14-4186C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169578 | |||||||
| chr20:36169668 | C | T | 12 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(9): Show |
14 | HG01070.hp2 HG01081.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.-14-4096C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169668 | |||||||
| chr20:36169732 | C | T | 1 | a0001c0001t0002g0111 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-14-4032C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169732 | |||||||
| chr20:36169889 | G | A | 1 | a0001c0007t0008g0036 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-14-3875G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36169889 | |||||||
| chr20:36170038 | C | T | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14-3726C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170038 | |||||||
| chr20:36170264 | T | C | 2 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
2 | HG02071.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.-14-3500T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170264 | |||||||
| chr20:36170383 | T | C | 1 | a0001c0002t0007g0010 | 2 | HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-14-3381T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170383 | |||||||
| chr20:36170390 | G | A | 118 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(115): Show |
141 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(138): Show |
intron_variant | MODIFIER | c.-14-3374G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170390 | |||||||
| chr20:36170580 | G | A | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-14-3184G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170580 | |||||||
| chr20:36170586 | G | T | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-14-3178G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170586 | |||||||
| chr20:36170783 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-14-2981C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170783 | |||||||
| chr20:36170786 | A | G | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-14-2978A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36170786 | |||||||
| chr20:36170825 | TATCTCAA others(5): Show |
T | 1 | a0001c0002t0010g0088 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-14-2929_-14-2918d others(14): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36170825 | ||||||
| chr20:36171058 | C | T | 1 | a0002c0010t0001g0168 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-14-2706C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171058 | |||||||
| chr20:36171063 | G | C | 1 | a0001c0001t0002g0071 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-14-2701G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171063 | |||||||
| chr20:36171133 | C | CT | 50 | a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0090 others(47): Show |
59 | HG00099.hp2 HG00544.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.-14-2618dupT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36171133 | ||||||
| chr20:36171133 | CT | C | 15 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0004g0019 others(12): Show |
18 | HG01070.hp2 HG01081.hp2 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.-14-2618delT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr20 | 36171133 | ||||||
| chr20:36171140 | T | G | 4 | a0001c0001t0004g0019 a0001c0001t0004g0114 a0001c0001t0004g0115 others(1): Show |
5 | HG01361.hp2 HG02109.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14-2624T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171140 | |||||||
| chr20:36171333 | C | T | 1 | a0001c0002t0010g0087 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-14-2431C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171333 | |||||||
| chr20:36171370 | A | T | 1 | a0001c0002t0010g0087 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-14-2394A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171370 | |||||||
| chr20:36171446 | T | C | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14-2318T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171446 | |||||||
| chr20:36171573 | A | G | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14-2191A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171573 | |||||||
| chr20:36171585 | G | C | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-14-2179G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171585 | |||||||
| chr20:36171691 | C | G | 3 | a0001c0002t0003g0012 a0001c0002t0003g0050 a0001c0002t0003g0055 |
4 | NA18959.hp2 NA18993.hp1 NA19081.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14-2073C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171691 | |||||||
| chr20:36171970 | G | C | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-14-1794G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36171970 | |||||||
| chr20:36172015 | G | A | 34 | a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0090 others(31): Show |
42 | HG00099.hp2 HG00544.hp1 HG00639.hp2 others(39): Show |
intron_variant | MODIFIER | c.-14-1749G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172015 | |||||||
| chr20:36172025 | C | T | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14-1739C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172025 | |||||||
| chr20:36172048 | G | A | 1 | a0001c0001t0004g0117 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-14-1716G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172048 | |||||||
| chr20:36172112 | G | A | 12 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(9): Show |
14 | HG01070.hp2 HG01081.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.-14-1652G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172112 | |||||||
| chr20:36172182 | G | A | 1 | a0001c0001t0001g0089 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-14-1582G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172182 | |||||||
| chr20:36172299 | G | A | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14-1465G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172299 | |||||||
| chr20:36172374 | C | T | 1 | a0001c0001t0001g0025 | 2 | HG01255.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.-14-1390C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172374 | |||||||
| chr20:36172406 | G | C | 4 | a0001c0001t0001g0025 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
6 | HG01069.hp2 HG01070.hp1 HG01255.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14-1358G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172406 | |||||||
| chr20:36172522 | T | C | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14-1242T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172522 | |||||||
| chr20:36172616 | T | G | 1 | a0001c0001t0001g0137 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-14-1148T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172616 | |||||||
| chr20:36172891 | C | T | 1 | a0001c0001t0002g0108 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-14-873C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172891 | |||||||
| chr20:36172914 | A | G | 1 | a0001c0001t0002g0107 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-14-850A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172914 | |||||||
| chr20:36172958 | T | C | 1 | a0001c0003t0024g0180 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-14-806T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36172958 | |||||||
| chr20:36173010 | C | T | 38 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(35): Show |
44 | HG00423.hp2 HG00558.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.-14-754C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36173010 | |||||||
| chr20:36173438 | G | A | 3 | a0001c0007t0008g0036 a0001c0007t0008g0037 a0002c0010t0001g0168 |
3 | HG00140.hp2 HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14-326G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36173438 | |||||||
| chr20:36173453 | C | T | 1 | a0001c0001t0001g0084 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.-14-311C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36173453 | |||||||
| chr20:36173628 | C | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-14-136C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1/21 | chr20 | 36173628 | |||||||
| chr20:36173996 | C | T | 17 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(14): Show |
23 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.177+42C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36173996 | |||||||
| chr20:36174124 | C | A | 4 | a0001c0004t0009g0051 a0001c0004t0009g0052 a0001c0004t0009g0053 others(1): Show |
4 | HG01109.hp2 HG03195.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.177+170C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174124 | |||||||
| chr20:36174298 | G | A | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.177+344G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174298 | |||||||
| chr20:36174298 | G | T | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.177+344G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174298 | |||||||
| chr20:36174350 | G | A | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.177+396G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174350 | |||||||
| chr20:36174361 | C | T | 6 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0021g0039 others(3): Show |
6 | HG02486.hp2 HG02559.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.177+407C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174361 | |||||||
| chr20:36174377 | A | G | 1 | a0001c0001t0005g0046 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.177+423A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174377 | |||||||
| chr20:36174499 | C | T | 1 | a0001c0001t0001g0006 | 3 | HG02922.hp2 HG02965.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.177+545C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174499 | |||||||
| chr20:36174572 | C | CT | 21 | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0079 others(18): Show |
24 | HG00140.hp1 HG00423.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.177+634dupT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr20 | 36174572 | ||||||
| chr20:36174588 | T | A | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.177+634T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174588 | |||||||
| chr20:36174681 | G | T | 1 | a0001c0001t0001g0162 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.177+727G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174681 | |||||||
| chr20:36174713 | G | T | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.177+759G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174713 | |||||||
| chr20:36174995 | C | T | 11 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0003t0006g0026 others(8): Show |
13 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.178-556C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36174995 | |||||||
| chr20:36175027 | C | T | 1 | a0001c0001t0004g0116 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.178-524C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36175027 | |||||||
| chr20:36175274 | A | G | 1 | a0001c0001t0004g0121 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.178-277A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36175274 | |||||||
| chr20:36175502 | C | T | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.178-49C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 2/21 | chr20 | 36175502 | |||||||
| chr20:36176086 | C | T | 2 | a0001c0001t0002g0004 a0001c0001t0002g0018 |
5 | NA18747.hp2 NA18943.hp2 NA18952.hp1 others(2): Show |
intron_variant | MODIFIER | c.342+371C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36176086 | |||||||
| chr20:36176122 | G | A | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.342+407G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36176122 | |||||||
| chr20:36176199 | G | A | 1 | a0001c0001t0020g0181 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.342+484G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36176199 | |||||||
| chr20:36176212 | G | A | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.342+497G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36176212 | |||||||
| chr20:36176630 | C | CT | 7 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0020g0181 others(4): Show |
7 | HG01070.hp2 HG01952.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.342+931dupT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr20 | 36176630 | ||||||
| chr20:36176772 | C | A | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.342+1057C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36176772 | |||||||
| chr20:36177339 | A | G | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.343-613A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36177339 | |||||||
| chr20:36177370 | C | A | 2 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
2 | HG02071.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.343-582C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36177370 | |||||||
| chr20:36177569 | C | T | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.343-383C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36177569 | |||||||
| chr20:36177664 | G | A | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.343-288G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36177664 | |||||||
| chr20:36177762 | A | T | 2 | a0001c0005t0008g0048 a0001c0008t0008g0042 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.343-190A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 3/21 | chr20 | 36177762 | |||||||
| chr20:36178073 | G | A | 2 | a0001c0001t0001g0021 a0001c0001t0018g0021 |
2 | HG01884.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.447+17G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/21 | chr20 | 36178073 | |||||||
| chr20:36178174 | C | T | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.447+118C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/21 | chr20 | 36178174 | |||||||
| chr20:36178198 | A | T | 21 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(18): Show |
25 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.447+142A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/21 | chr20 | 36178198 | |||||||
| chr20:36178267 | C | T | 2 | a0001c0001t0002g0104 a0001c0001t0002g0109 |
2 | HG03017.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.447+211C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/21 | chr20 | 36178267 | |||||||
| chr20:36178420 | C | T | 51 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0002t0003g0009 others(48): Show |
58 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.448-210C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/21 | chr20 | 36178420 | |||||||
| chr20:36178481 | C | G | 1 | a0001c0001t0001g0077 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.448-149C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4/21 | chr20 | 36178481 | |||||||
| chr20:36178823 | A | G | 56 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0001t0020g0181 others(53): Show |
64 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(61): Show |
intron_variant | MODIFIER | c.490+151A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36178823 | |||||||
| chr20:36178875 | G | A | 6 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(3): Show |
9 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.490+203G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36178875 | |||||||
| chr20:36178888 | C | T | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.490+216C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36178888 | |||||||
| chr20:36178894 | T | TA | 11 | a0001c0001t0001g0022 a0001c0001t0001g0138 a0001c0001t0001g0139 others(8): Show |
12 | HG01175.hp1 HG02015.hp2 HG02027.hp2 others(9): Show |
intron_variant | MODIFIER | c.490+231dupA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr20 | 36178894 | ||||||
| chr20:36178953 | C | T | 1 | a0001c0005t0008g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.490+281C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36178953 | |||||||
| chr20:36178954 | G | A | 1 | a0001c0002t0003g0064 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.490+282G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36178954 | |||||||
| chr20:36179082 | G | GA | 4 | a0001c0001t0004g0019 a0001c0001t0004g0114 a0001c0001t0004g0115 others(1): Show |
5 | HG01361.hp2 HG02109.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.490+425dupA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr20 | 36179082 | ||||||
| chr20:36179318 | C | G | 11 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(8): Show |
15 | HG01070.hp2 HG01074.hp2 HG01515.hp2 others(12): Show |
intron_variant | MODIFIER | c.490+646C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36179318 | |||||||
| chr20:36179461 | C | T | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.490+789C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36179461 | |||||||
| chr20:36179572 | A | G | 43 | a0001c0001t0003g0027 a0001c0001t0003g0183 a0001c0002t0003g0009 others(40): Show |
51 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.490+900A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36179572 | |||||||
| chr20:36179839 | G | T | 9 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(6): Show |
11 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(8): Show |
intron_variant | MODIFIER | c.490+1167G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36179839 | |||||||
| chr20:36179977 | C | T | 1 | a0001c0002t0005g0060 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.490+1305C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36179977 | |||||||
| chr20:36180037 | G | T | 1 | a0001c0001t0004g0120 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.490+1365G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36180037 | |||||||
| chr20:36180044 | T | G | 1 | a0001c0001t0001g0169 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.490+1372T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36180044 | |||||||
| chr20:36180056 | T | G | 18 | a0001c0001t0020g0181 a0001c0002t0006g0038 a0001c0002t0010g0014 others(15): Show |
20 | HG01070.hp2 HG01081.hp2 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.490+1384T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36180056 | |||||||
| chr20:36180090 | C | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0172 |
3 | HG01255.hp2 HG02004.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.490+1418C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36180090 | |||||||
| chr20:36180272 | C | G | 21 | a0001c0001t0001g0128 a0001c0001t0002g0104 a0001c0001t0002g0109 others(18): Show |
23 | HG01070.hp2 HG01081.hp2 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.490+1600C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36180272 | |||||||
| chr20:36180718 | A | G | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.491-1554A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36180718 | |||||||
| chr20:36181121 | C | T | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.491-1151C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36181121 | |||||||
| chr20:36181401 | C | A | 21 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(18): Show |
25 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.491-871C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36181401 | |||||||
| chr20:36181698 | T | C | 1 | a0001c0001t0001g0138 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.491-574T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36181698 | |||||||
| chr20:36181889 | A | G | 100 | a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 others(97): Show |
120 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(117): Show |
intron_variant | MODIFIER | c.491-383A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36181889 | |||||||
| chr20:36181947 | G | A | 1 | a0001c0002t0010g0088 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.491-325G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36181947 | |||||||
| chr20:36181963 | A | G | 6 | a0001c0001t0004g0019 a0001c0001t0004g0114 a0001c0001t0004g0115 others(3): Show |
7 | HG01361.hp2 HG02109.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.491-309A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36181963 | |||||||
| chr20:36182026 | G | C | 1 | a0001c0007t0008g0037 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.491-246G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36182026 | |||||||
| chr20:36182086 | C | T | 2 | a0001c0002t0003g0009 a0001c0002t0003g0059 |
3 | HG01069.hp2 HG01070.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.491-186C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 5/21 | chr20 | 36182086 | |||||||
| chr20:36182360 | G | T | 1 | a0001c0001t0001g0085 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.566+13G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36182360 | |||||||
| chr20:36182456 | C | T | 2 | a0001c0005t0008g0048 a0001c0008t0008g0042 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.566+109C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36182456 | |||||||
| chr20:36182464 | G | A | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.566+117G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36182464 | |||||||
| chr20:36182773 | C | T | 1 | a0001c0001t0001g0159 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.566+426C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36182773 | |||||||
| chr20:36182795 | C | T | 2 | a0001c0005t0008g0048 a0001c0008t0008g0042 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.566+448C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36182795 | |||||||
| chr20:36182922 | A | G | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.566+575A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36182922 | |||||||
| chr20:36183232 | TC | T | 10 | a0001c0002t0021g0039 a0001c0003t0006g0026 a0001c0003t0006g0179 others(7): Show |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.566+889delC | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr20 | 36183232 | ||||||
| chr20:36183310 | G | C | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.566+963G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36183310 | |||||||
| chr20:36183676 | G | A | 1 | a0001c0001t0004g0019 | 2 | HG02615.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.566+1329G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36183676 | |||||||
| chr20:36183858 | G | T | 2 | a0001c0001t0004g0008 a0001c0001t0004g0020 |
5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.567-1259G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36183858 | |||||||
| chr20:36183967 | G | C | 2 | a0001c0001t0002g0015 a0001c0001t0002g0093 |
3 | HG02451.hp2 HG03225.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.567-1150G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36183967 | |||||||
| chr20:36184557 | C | T | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.567-560C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36184557 | |||||||
| chr20:36184828 | A | G | 1 | a0001c0005t0008g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.567-289A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36184828 | |||||||
| chr20:36184918 | A | G | 1 | a0001c0002t0003g0058 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.567-199A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36184918 | |||||||
| chr20:36184991 | C | T | 16 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(13): Show |
22 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.567-126C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 6/21 | chr20 | 36184991 | |||||||
| chr20:36185417 | C | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.785+82C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36185417 | |||||||
| chr20:36185631 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.785+296G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36185631 | |||||||
| chr20:36186208 | G | A | 34 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(31): Show |
40 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.785+873G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36186208 | |||||||
| chr20:36186448 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.785+1113G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36186448 | |||||||
| chr20:36186731 | A | G | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.786-945A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36186731 | |||||||
| chr20:36186951 | T | C | 2 | a0001c0001t0002g0074 a0001c0001t0002g0076 |
2 | NA18947.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.786-725T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36186951 | |||||||
| chr20:36186989 | G | A | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.786-687G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36186989 | |||||||
| chr20:36187022 | C | G | 52 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(49): Show |
59 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(56): Show |
intron_variant | MODIFIER | c.786-654C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36187022 | |||||||
| chr20:36187200 | T | C | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.786-476T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36187200 | |||||||
| chr20:36187629 | A | G | 115 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(112): Show |
137 | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(134): Show |
intron_variant | MODIFIER | c.786-47A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36187629 | |||||||
| chr20:36187658 | T | C | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.786-18T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 7/21 | chr20 | 36187658 | |||||||
| chr20:36187770 | C | G | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
splice_region_variant&intron_variant | LOW | c.873+7C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 8/21 | chr20 | 36187770 | |||||||
| chr20:36187796 | T | C | 1 | a0001c0001t0001g0171 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.873+33T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 8/21 | chr20 | 36187796 | |||||||
| chr20:36187855 | G | T | 10 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0020 others(7): Show |
15 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.873+92G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 8/21 | chr20 | 36187855 | |||||||
| chr20:36188509 | C | T | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1026+10C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188509 | |||||||
| chr20:36188559 | T | G | 9 | a0001c0003t0006g0026 a0001c0003t0006g0179 a0001c0003t0006g0182 others(6): Show |
10 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.1026+60T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188559 | |||||||
| chr20:36188579 | CCAACACA others(4): Show |
C | 1 | a0001c0002t0003g0055 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1026+83_1026+93del others(11): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188579 | ||||||
| chr20:36188581 | A | AAC | 10 | a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0089 others(7): Show |
11 | HG01943.hp1 HG02148.hp2 HG02523.hp1 others(8): Show |
intron_variant | MODIFIER | c.1026+142_1026+143d others(4): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | A | AACAC | 14 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0090 others(11): Show |
14 | HG00733.hp2 HG01081.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.1026+140_1026+143d others(6): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | A | AACACAC | 7 | a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0001g0166 others(4): Show |
8 | HG01167.hp2 HG01255.hp2 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.1026+138_1026+143d others(8): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | A | AACACACA others(1): Show |
5 | a0001c0001t0001g0132 a0001c0001t0002g0096 a0001c0001t0020g0181 others(2): Show |
5 | HG01070.hp2 HG02145.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1026+136_1026+143d others(10): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | A | AACACACA others(3): Show |
3 | a0001c0001t0001g0172 a0001c0003t0006g0182 a0001c0003t0006g0185 |
3 | HG02004.hp2 HG02809.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1026+134_1026+143d others(12): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AAC | A | 22 | a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0138 others(19): Show |
22 | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(19): Show |
intron_variant | MODIFIER | c.1026+142_1026+143d others(4): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AACAC | A | 13 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0024 others(10): Show |
15 | HG00544.hp1 HG00558.hp1 HG00738.hp1 others(12): Show |
intron_variant | MODIFIER | c.1026+140_1026+143d others(6): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AACACAC | A | 7 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0004 others(4): Show |
12 | HG01081.hp1 HG01169.hp2 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.1026+138_1026+143d others(8): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AACACACA others(1): Show |
A | 8 | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0002g0004 others(5): Show |
8 | HG00140.hp1 HG00639.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.1026+136_1026+143d others(10): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AACACACA others(3): Show |
A | 3 | a0001c0001t0001g0147 a0001c0001t0002g0018 a0001c0001t0002g0102 |
4 | HG03831.hp1 HG04204.hp1 NA18747.hp2 others(1): Show |
intron_variant | MODIFIER | c.1026+134_1026+143d others(12): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AACACACA others(5): Show |
A | 2 | a0001c0001t0002g0103 a0001c0001t0005g0044 |
2 | HG02257.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1026+132_1026+143d others(14): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188581 | AACACACA others(7): Show |
A | 2 | a0001c0001t0001g0080 a0001c0001t0001g0162 |
2 | HG02071.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.1026+130_1026+143d others(16): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188581 | ||||||
| chr20:36188619 | CACACACA others(17): Show |
C | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1026+122_1026+145d others(26): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188619 | ||||||
| chr20:36188623 | CACACACA others(15): Show |
C | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1026+126_1026+147d others(24): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188623 | ||||||
| chr20:36188625 | CACACACA others(13): Show |
C | 3 | a0001c0001t0004g0007 a0001c0001t0004g0121 a0001c0001t0004g0123 |
3 | HG02717.hp1 HG03209.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1026+128_1026+147d others(22): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188625 | ||||||
| chr20:36188625 | CACACACA others(15): Show |
C | 1 | a0001c0002t0007g0010 | 2 | HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1026+128_1026+149d others(24): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188625 | ||||||
| chr20:36188627 | CACACACA others(9): Show |
C | 3 | a0001c0001t0004g0113 a0001c0001t0005g0046 a0001c0002t0003g0064 |
3 | HG03041.hp2 HG03491.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1026+130_1026+145d others(18): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188627 | ||||||
| chr20:36188627 | CACACACA others(11): Show |
C | 16 | a0001c0001t0004g0117 a0001c0002t0003g0012 a0001c0002t0003g0013 others(13): Show |
17 | HG00423.hp2 HG00558.hp2 HG02027.hp1 others(14): Show |
intron_variant | MODIFIER | c.1026+130_1026+147d others(20): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188627 | ||||||
| chr20:36188629 | CACACACA others(7): Show |
C | 1 | a0001c0002t0003g0011 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1026+132_1026+145d others(16): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188629 | ||||||
| chr20:36188629 | CACACACA others(9): Show |
C | 7 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0020 others(4): Show |
11 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.1026+132_1026+147d others(18): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188629 | ||||||
| chr20:36188631 | CACACACA others(5): Show |
C | 6 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 others(3): Show |
6 | HG00423.hp1 HG00544.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1026+134_1026+145d others(14): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188631 | ||||||
| chr20:36188631 | CACACACA others(7): Show |
C | 11 | a0001c0001t0004g0019 a0001c0001t0004g0114 a0001c0001t0004g0115 others(8): Show |
12 | HG01069.hp2 HG01070.hp1 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1026+134_1026+147d others(16): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188631 | ||||||
| chr20:36188631 | CACACACA others(9): Show |
C | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1026+134_1026+149d others(18): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188631 | ||||||
| chr20:36188633 | CACACACA others(3): Show |
C | 1 | a0001c0001t0001g0081 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1026+136_1026+145d others(12): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188633 | ||||||
| chr20:36188635 | CACACACA others(1): Show |
C | 3 | a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0167 |
4 | NA18949.hp2 NA18961.hp1 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.1026+138_1026+145d others(10): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188635 | ||||||
| chr20:36188635 | CACACACA others(3): Show |
C | 1 | a0001c0002t0003g0013 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1026+138_1026+147d others(12): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188635 | ||||||
| chr20:36188637 | CACACAG | C | 4 | a0001c0001t0001g0005 a0001c0001t0002g0178 a0001c0001t0005g0045 others(1): Show |
4 | HG01256.hp1 HG02723.hp2 HG04199.hp2 others(1): Show |
intron_variant | MODIFIER | c.1026+140_1026+145d others(8): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188637 | ||||||
| chr20:36188637 | CACACAGA others(1): Show |
C | 3 | a0001c0002t0012g0124 a0001c0004t0009g0052 a0001c0004t0009g0053 |
3 | HG02280.hp1 HG03195.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1026+140_1026+147d others(10): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188637 | ||||||
| chr20:36188637 | CACACAGA others(3): Show |
C | 1 | a0001c0002t0010g0014 | 2 | HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1026+140_1026+149d others(12): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188637 | ||||||
| chr20:36188637 | CACACAGA others(5): Show |
C | 1 | a0001c0008t0008g0042 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1026+140_1026+151d others(14): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188637 | ||||||
| chr20:36188639 | CACAG | C | 4 | a0001c0001t0005g0043 a0001c0002t0021g0039 a0001c0007t0008g0037 others(1): Show |
4 | HG00140.hp2 HG02451.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1026+142_1026+145d others(6): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188639 | ||||||
| chr20:36188641 | C | G | 9 | a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0001g0162 others(6): Show |
11 | HG00642.hp2 HG00738.hp1 HG01346.hp1 others(8): Show |
intron_variant | MODIFIER | c.1026+142C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188641 | |||||||
| chr20:36188641 | CAG | C | 3 | a0001c0001t0001g0085 a0001c0001t0005g0047 a0001c0006t0007g0032 |
3 | HG02630.hp2 HG02970.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.1026+169_1026+170d others(4): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188641 | ||||||
| chr20:36188641 | CAGAG | C | 5 | a0001c0002t0003g0055 a0001c0004t0009g0054 a0001c0005t0008g0048 others(2): Show |
5 | HG01109.hp2 HG02976.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1026+167_1026+170d others(6): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188641 | ||||||
| chr20:36188643 | G | C | 9 | a0001c0001t0001g0072 a0001c0001t0001g0170 a0001c0001t0005g0003 others(6): Show |
12 | HG00733.hp2 HG01070.hp2 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.1026+144G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188643 | |||||||
| chr20:36188645 | G | C | 4 | a0001c0002t0010g0086 a0001c0004t0009g0051 a0001c0006t0007g0032 others(1): Show |
4 | HG02630.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1026+146G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188645 | |||||||
| chr20:36188647 | G | C | 3 | a0001c0002t0010g0086 a0001c0005t0008g0048 a0001c0013t0007g0035 |
3 | HG02818.hp1 HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1026+148G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188647 | |||||||
| chr20:36188649 | G | C | 1 | a0001c0005t0008g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1026+150G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188649 | |||||||
| chr20:36188808 | C | T | 10 | a0001c0002t0021g0039 a0001c0003t0006g0026 a0001c0003t0006g0179 others(7): Show |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.1026+309C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188808 | |||||||
| chr20:36188878 | CA | C | 5 | a0001c0001t0003g0183 a0001c0002t0006g0038 a0001c0002t0011g0040 others(2): Show |
5 | HG02723.hp1 HG02897.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1026+393delA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36188878 | ||||||
| chr20:36188927 | C | T | 10 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(7): Show |
12 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.1026+428C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36188927 | |||||||
| chr20:36189029 | G | A | 7 | a0001c0003t0006g0026 a0001c0003t0006g0182 a0001c0003t0006g0184 others(4): Show |
8 | HG01261.hp2 HG02622.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1026+530G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36189029 | |||||||
| chr20:36189089 | A | G | 1 | a0001c0001t0001g0156 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1026+590A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36189089 | |||||||
| chr20:36189145 | T | C | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1026+646T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36189145 | |||||||
| chr20:36189253 | A | G | 2 | a0001c0002t0003g0057 a0001c0002t0003g0062 |
2 | NA18949.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.1026+754A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36189253 | |||||||
| chr20:36189507 | T | C | 10 | a0001c0002t0021g0039 a0001c0003t0006g0026 a0001c0003t0006g0179 others(7): Show |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.1027-770T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36189507 | |||||||
| chr20:36189797 | C | A | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1027-480C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36189797 | |||||||
| chr20:36190132 | C | A | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1027-145C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36190132 | |||||||
| chr20:36190162 | C | T | 9 | a0001c0003t0006g0026 a0001c0003t0006g0179 a0001c0003t0006g0182 others(6): Show |
10 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.1027-115C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36190162 | |||||||
| chr20:36190201 | TA | T | 2 | a0001c0001t0002g0004 a0001c0001t0002g0018 |
5 | NA18747.hp2 NA18943.hp2 NA18952.hp1 others(2): Show |
intron_variant | MODIFIER | c.1027-70delA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | 36190201 | ||||||
| chr20:36190207 | A | T | 2 | a0001c0001t0002g0004 a0001c0001t0002g0018 |
5 | NA18747.hp2 NA18943.hp2 NA18952.hp1 others(2): Show |
intron_variant | MODIFIER | c.1027-70A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | chr20 | 36190207 | |||||||
| chr20:36190431 | G | A | 3 | a0001c0002t0006g0038 a0001c0002t0011g0040 a0001c0002t0011g0189 |
3 | HG02723.hp1 HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1124+57G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 10/21 | chr20 | 36190431 | |||||||
| chr20:36190520 | G | A | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1125-102G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 10/21 | chr20 | 36190520 | |||||||
| chr20:36190992 | C | T | 1 | a0001c0001t0016g0130 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1300+195C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36190992 | |||||||
| chr20:36190995 | C | T | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1300+198C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36190995 | |||||||
| chr20:36191639 | T | C | 2 | a0001c0005t0008g0048 a0001c0008t0008g0042 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1300+842T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191639 | |||||||
| chr20:36191758 | A | G | 27 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(24): Show |
32 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.1300+961A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191758 | |||||||
| chr20:36191942 | G | T | 1 | a0001c0001t0002g0076 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1300+1145G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191942 | |||||||
| chr20:36191943 | G | C | 1 | a0001c0001t0002g0076 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1300+1146G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191943 | |||||||
| chr20:36191944 | G | A | 1 | a0001c0001t0002g0076 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1300+1147G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191944 | |||||||
| chr20:36191945 | G | C | 1 | a0001c0001t0002g0076 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1300+1148G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191945 | |||||||
| chr20:36191996 | C | T | 1 | a0001c0013t0007g0035 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1300+1199C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36191996 | |||||||
| chr20:36192083 | G | A | 2 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | HG01891.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1300+1286G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192083 | |||||||
| chr20:36192148 | C | T | 2 | a0001c0002t0011g0040 a0001c0002t0011g0189 |
2 | HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1300+1351C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192148 | |||||||
| chr20:36192230 | A | T | 2 | a0001c0005t0008g0048 a0001c0008t0008g0042 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1300+1433A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192230 | |||||||
| chr20:36192280 | C | T | 1 | a0001c0002t0003g0070 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1300+1483C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192280 | |||||||
| chr20:36192303 | C | T | 16 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(13): Show |
22 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.1300+1506C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192303 | |||||||
| chr20:36192471 | A | G | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1300+1674A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192471 | |||||||
| chr20:36192490 | G | A | 1 | a0001c0001t0016g0130 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1300+1693G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192490 | |||||||
| chr20:36192526 | C | T | 2 | a0001c0002t0011g0040 a0001c0002t0011g0189 |
2 | HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1301-1686C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192526 | |||||||
| chr20:36192531 | C | CA | 36 | a0001c0001t0001g0089 a0001c0001t0001g0135 a0001c0001t0001g0139 others(33): Show |
41 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(38): Show |
intron_variant | MODIFIER | c.1301-1658dupA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr20 | 36192531 | ||||||
| chr20:36192531 | CA | C | 12 | a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0002g0015 others(9): Show |
14 | HG00099.hp1 HG01070.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.1301-1658delA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr20 | 36192531 | ||||||
| chr20:36192531 | CAAA | C | 9 | a0001c0002t0006g0038 a0001c0003t0006g0026 a0001c0003t0006g0182 others(6): Show |
10 | HG01261.hp2 HG02622.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.1301-1660_1301-165 others(7): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr20 | 36192531 | ||||||
| chr20:36192675 | T | G | 1 | a0001c0002t0023g0066 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1301-1537T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192675 | |||||||
| chr20:36192863 | G | T | 2 | a0001c0002t0003g0065 a0001c0002t0023g0066 |
2 | NA18950.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.1301-1349G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192863 | |||||||
| chr20:36192973 | C | T | 7 | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 others(4): Show |
11 | HG00099.hp2 HG00733.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1301-1239C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36192973 | |||||||
| chr20:36193103 | A | G | 2 | a0001c0001t0003g0027 a0001c0001t0003g0183 |
3 | HG02895.hp2 HG02897.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1301-1109A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36193103 | |||||||
| chr20:36193353 | G | A | 1 | a0001c0001t0001g0025 | 2 | HG01255.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.1301-859G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36193353 | |||||||
| chr20:36193517 | A | G | 1 | a0001c0001t0002g0100 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1301-695A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36193517 | |||||||
| chr20:36193545 | C | A | 1 | a0001c0001t0013g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1301-667C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36193545 | |||||||
| chr20:36194008 | C | G | 2 | a0001c0002t0011g0040 a0001c0002t0011g0189 |
2 | HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1301-204C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36194008 | |||||||
| chr20:36194078 | C | T | 1 | a0001c0001t0002g0103 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1301-134C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36194078 | |||||||
| chr20:36194135 | G | A | 10 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(7): Show |
12 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.1301-77G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 11/21 | chr20 | 36194135 | |||||||
| chr20:36194380 | A | T | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1449+20A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36194380 | |||||||
| chr20:36194591 | C | T | 1 | a0001c0001t0002g0100 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1449+231C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36194591 | |||||||
| chr20:36194640 | T | G | 4 | a0001c0005t0008g0030 a0001c0005t0008g0031 a0001c0005t0008g0048 others(1): Show |
4 | HG02486.hp2 HG02559.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1449+280T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36194640 | |||||||
| chr20:36194671 | G | T | 1 | a0001c0001t0013g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1449+311G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36194671 | |||||||
| chr20:36194844 | T | G | 1 | a0001c0002t0010g0088 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1449+484T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36194844 | |||||||
| chr20:36195137 | C | G | 6 | a0001c0005t0019g0110 a0001c0006t0007g0032 a0001c0006t0007g0033 others(3): Show |
6 | HG01243.hp2 HG02630.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1450-192C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36195137 | |||||||
| chr20:36195150 | C | T | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1450-179C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36195150 | |||||||
| chr20:36195190 | C | T | 4 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(1): Show |
4 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1450-139C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36195190 | |||||||
| chr20:36195260 | C | T | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1450-69C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 12/21 | chr20 | 36195260 | |||||||
| chr20:36195759 | G | C | 34 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 others(31): Show |
39 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.1485+395G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36195759 | |||||||
| chr20:36195824 | T | G | 20 | a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0002t0006g0038 others(17): Show |
21 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(18): Show |
intron_variant | MODIFIER | c.1485+460T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36195824 | |||||||
| chr20:36196186 | G | A | 1 | a0001c0002t0012g0124 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1485+822G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36196186 | |||||||
| chr20:36196301 | C | T | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1485+937C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36196301 | |||||||
| chr20:36196913 | A | G | 12 | a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 others(9): Show |
13 | HG01081.hp2 HG01261.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1486-946A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36196913 | |||||||
| chr20:36196963 | T | C | 58 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(55): Show |
64 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(61): Show |
intron_variant | MODIFIER | c.1486-896T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36196963 | |||||||
| chr20:36196994 | C | T | 7 | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 others(4): Show |
11 | HG00099.hp2 HG00733.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1486-865C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36196994 | |||||||
| chr20:36197021 | G | A | 1 | a0001c0001t0001g0163 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1486-838G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197021 | |||||||
| chr20:36197044 | T | C | 35 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(32): Show |
39 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.1486-815T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197044 | |||||||
| chr20:36197081 | G | A | 1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1486-778G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197081 | |||||||
| chr20:36197215 | G | T | 7 | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 others(4): Show |
11 | HG00099.hp2 HG00733.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1486-644G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197215 | |||||||
| chr20:36197422 | G | A | 1 | a0001c0002t0006g0038 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1486-437G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197422 | |||||||
| chr20:36197517 | G | A | 1 | a0001c0001t0002g0095 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1486-342G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197517 | |||||||
| chr20:36197775 | G | A | 1 | a0002c0010t0001g0168 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1486-84G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197775 | |||||||
| chr20:36197810 | C | T | 6 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(3): Show |
9 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1486-49C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197810 | |||||||
| chr20:36197835 | A | G | 5 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(2): Show |
5 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1486-24A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 13/21 | chr20 | 36197835 | |||||||
| chr20:36198153 | T | C | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1668+112T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36198153 | |||||||
| chr20:36198201 | G | T | 29 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(26): Show |
33 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.1668+160G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36198201 | |||||||
| chr20:36198666 | G | T | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1668+625G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36198666 | |||||||
| chr20:36199134 | C | T | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1668+1093C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199134 | |||||||
| chr20:36199160 | C | A | 8 | a0001c0005t0008g0030 a0001c0005t0008g0031 a0001c0005t0019g0110 others(5): Show |
8 | HG01243.hp2 HG02486.hp2 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1668+1119C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199160 | |||||||
| chr20:36199182 | G | A | 5 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0020 others(2): Show |
10 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.1668+1141G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199182 | |||||||
| chr20:36199290 | C | T | 1 | a0001c0001t0002g0112 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1668+1249C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199290 | |||||||
| chr20:36199391 | A | G | 3 | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 |
3 | HG02738.hp1 NA18965.hp2 NA18972.hp1 |
intron_variant | MODIFIER | c.1668+1350A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199391 | |||||||
| chr20:36199506 | C | T | 1 | a0004c0015t0001g0157 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1668+1465C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199506 | |||||||
| chr20:36199834 | G | A | 1 | a0001c0002t0009g0063 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1668+1793G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199834 | |||||||
| chr20:36199867 | G | C | 2 | a0001c0003t0006g0186 a0001c0003t0006g0188 |
2 | HG01261.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1668+1826G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199867 | |||||||
| chr20:36199868 | G | T | 2 | a0001c0003t0006g0186 a0001c0003t0006g0188 |
2 | HG01261.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1668+1827G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36199868 | |||||||
| chr20:36200234 | G | T | 1 | a0001c0001t0002g0102 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1668+2193G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36200234 | |||||||
| chr20:36200308 | G | A | 1 | a0001c0001t0001g0006 | 3 | HG02922.hp2 HG02965.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1668+2267G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36200308 | |||||||
| chr20:36200452 | C | CT | 35 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(32): Show |
39 | HG00423.hp2 HG00558.hp2 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.1668+2412dupT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36200452 | ||||||
| chr20:36200559 | C | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1668+2518C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36200559 | |||||||
| chr20:36200576 | A | C | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1668+2535A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36200576 | |||||||
| chr20:36201323 | G | A | 2 | a0001c0002t0012g0124 a0001c0002t0012g0125 |
2 | HG02145.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1668+3282G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36201323 | |||||||
| chr20:36201689 | C | G | 1 | a0001c0001t0002g0095 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1668+3648C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36201689 | |||||||
| chr20:36201950 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1668+3909G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36201950 | |||||||
| chr20:36201985 | A | G | 1 | a0001c0001t0004g0122 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1668+3944A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36201985 | |||||||
| chr20:36202171 | G | C | 4 | a0001c0004t0009g0051 a0001c0004t0009g0052 a0001c0004t0009g0053 others(1): Show |
4 | HG01109.hp2 HG03195.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1668+4130G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202171 | |||||||
| chr20:36202200 | G | A | 8 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(5): Show |
10 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.1668+4159G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202200 | |||||||
| chr20:36202281 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1668+4240G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202281 | |||||||
| chr20:36202592 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1668+4551G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202592 | |||||||
| chr20:36202640 | A | AAAT | 7 | a0001c0001t0001g0021 a0001c0001t0018g0021 a0001c0002t0012g0125 others(4): Show |
7 | HG01884.hp2 HG02145.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.1668+4623_1668+462 others(7): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36202640 | ||||||
| chr20:36202667 | G | T | 1 | a0001c0001t0001g0028 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1668+4626G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202667 | |||||||
| chr20:36202738 | G | T | 1 | a0001c0001t0002g0178 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1668+4697G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202738 | |||||||
| chr20:36202745 | G | A | 5 | a0001c0006t0007g0032 a0001c0006t0007g0033 a0001c0006t0007g0034 others(2): Show |
5 | HG02630.hp2 HG02886.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1668+4704G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202745 | |||||||
| chr20:36202810 | C | CA | 17 | a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0129 others(14): Show |
17 | HG00733.hp1 HG01243.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.1668+4789dupA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36202810 | ||||||
| chr20:36202810 | CA | C | 7 | a0001c0001t0002g0099 a0001c0002t0010g0014 a0001c0002t0010g0086 others(4): Show |
8 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.1668+4789delA | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36202810 | ||||||
| chr20:36202831 | G | T | 4 | a0001c0005t0008g0030 a0001c0005t0008g0031 a0001c0005t0008g0048 others(1): Show |
4 | HG02486.hp2 HG02559.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1668+4790G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36202831 | |||||||
| chr20:36203215 | T | C | 12 | a0001c0002t0009g0063 a0001c0002t0010g0014 a0001c0002t0010g0086 others(9): Show |
13 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.1668+5174T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36203215 | |||||||
| chr20:36203415 | A | G | 1 | a0001c0014t0001g0154 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1668+5374A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36203415 | |||||||
| chr20:36203646 | C | T | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1668+5605C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36203646 | |||||||
| chr20:36203672 | C | T | 5 | a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0071 others(2): Show |
8 | HG02257.hp2 HG02735.hp2 HG03831.hp1 others(5): Show |
intron_variant | MODIFIER | c.1668+5631C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36203672 | |||||||
| chr20:36203883 | G | C | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1669-5605G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36203883 | |||||||
| chr20:36203922 | ACTC | A | 20 | a0001c0002t0009g0063 a0001c0002t0010g0014 a0001c0002t0010g0086 others(17): Show |
21 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.1669-5558_1669-555 others(7): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36203922 | ||||||
| chr20:36204095 | G | A | 5 | a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(2): Show |
5 | NA18950.hp2 NA18959.hp1 NA18972.hp2 others(2): Show |
intron_variant | MODIFIER | c.1669-5393G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36204095 | |||||||
| chr20:36204159 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1669-5329T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36204159 | |||||||
| chr20:36204202 | G | A | 16 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(13): Show |
23 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.1669-5286G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36204202 | |||||||
| chr20:36204471 | C | CT | 26 | a0001c0001t0001g0028 a0001c0001t0001g0084 a0001c0001t0001g0128 others(23): Show |
27 | HG01081.hp2 HG01175.hp1 HG01261.hp2 others(24): Show |
intron_variant | MODIFIER | c.1669-4991dupT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTT | 5 | a0001c0002t0012g0124 a0001c0002t0012g0125 a0001c0003t0006g0182 others(2): Show |
5 | HG02145.hp2 HG02280.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1669-4992_1669-499 others(6): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(3): Show |
3 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 |
4 | HG01884.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1669-5000_1669-499 others(14): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(4): Show |
1 | a0001c0002t0010g0088 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1669-5001_1669-499 others(15): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(10): Show |
1 | a0001c0002t0011g0189 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1669-5007_1669-499 others(21): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(11): Show |
1 | a0001c0002t0009g0063 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1669-5008_1669-499 others(22): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(17): Show |
2 | a0001c0004t0009g0051 a0001c0004t0009g0052 |
2 | HG03195.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1669-5014_1669-499 others(28): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(18): Show |
1 | a0001c0004t0009g0054 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1669-5015_1669-499 others(29): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | C | CTTTTTTT others(21): Show |
1 | a0001c0004t0009g0053 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1669-4991_1669-499 others(32): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | CT | C | 8 | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0143 others(5): Show |
8 | HG01256.hp1 HG02523.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1669-4991delT | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204471 | CTTTTT | C | 14 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(11): Show |
21 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.1669-4995_1669-499 others(9): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr20 | 36204471 | ||||||
| chr20:36204618 | G | A | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1669-4870G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36204618 | |||||||
| chr20:36204666 | G | A | 6 | a0001c0001t0005g0003 a0001c0001t0005g0043 a0001c0001t0005g0044 others(3): Show |
9 | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.1669-4822G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36204666 | |||||||
| chr20:36204834 | G | A | 4 | a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0059 others(1): Show |
6 | HG01069.hp2 HG01070.hp1 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1669-4654G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36204834 | |||||||
| chr20:36205119 | C | A | 1 | a0001c0001t0001g0129 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1669-4369C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205119 | |||||||
| chr20:36205149 | C | T | 1 | a0001c0001t0001g0152 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1669-4339C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205149 | |||||||
| chr20:36205373 | A | G | 1 | a0001c0001t0001g0162 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1669-4115A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205373 | |||||||
| chr20:36205486 | C | T | 1 | a0001c0002t0003g0049 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1669-4002C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205486 | |||||||
| chr20:36205575 | A | G | 107 | a0001c0001t0001g0134 a0001c0001t0002g0004 a0001c0001t0002g0015 others(104): Show |
127 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(124): Show |
intron_variant | MODIFIER | c.1669-3913A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205575 | |||||||
| chr20:36205721 | G | A | 8 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(5): Show |
10 | HG00423.hp1 HG00544.hp2 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.1669-3767G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205721 | |||||||
| chr20:36205777 | A | G | 4 | a0001c0001t0001g0023 a0001c0001t0001g0151 a0001c0001t0001g0152 others(1): Show |
5 | HG01255.hp1 HG01261.hp1 NA18951.hp1 others(2): Show |
intron_variant | MODIFIER | c.1669-3711A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36205777 | |||||||
| chr20:36207010 | C | G | 2 | a0001c0001t0005g0044 a0001c0001t0005g0046 |
2 | HG03490.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1669-2478C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207010 | |||||||
| chr20:36207213 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1669-2275G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207213 | |||||||
| chr20:36207349 | G | A | 2 | a0001c0002t0011g0040 a0001c0002t0011g0189 |
2 | HG03130.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1669-2139G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207349 | |||||||
| chr20:36207417 | C | T | 1 | a0001c0001t0015g0098 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1669-2071C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207417 | |||||||
| chr20:36207450 | C | T | 51 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(48): Show |
60 | HG00738.hp2 HG01081.hp2 HG01109.hp2 others(57): Show |
intron_variant | MODIFIER | c.1669-2038C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207450 | |||||||
| chr20:36207723 | G | C | 1 | a0001c0001t0001g0006 | 3 | HG02922.hp2 HG02965.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1669-1765G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207723 | |||||||
| chr20:36207893 | A | G | 4 | a0001c0001t0004g0019 a0001c0001t0004g0114 a0001c0001t0004g0115 others(1): Show |
5 | HG01361.hp2 HG02109.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1669-1595A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36207893 | |||||||
| chr20:36208067 | G | A | 1 | a0001c0001t0002g0111 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1669-1421G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36208067 | |||||||
| chr20:36208114 | C | T | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1669-1374C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36208114 | |||||||
| chr20:36208387 | T | C | 31 | a0001c0002t0006g0038 a0001c0002t0009g0063 a0001c0002t0010g0014 others(28): Show |
33 | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.1669-1101T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36208387 | |||||||
| chr20:36208776 | G | A | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1669-712G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 14/21 | chr20 | 36208776 | |||||||
| chr20:36209930 | G | A | 2 | a0001c0001t0001g0141 a0001c0001t0001g0142 |
2 | NA18950.hp2 NA18972.hp2 |
intron_variant | MODIFIER | c.2079+32G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36209930 | |||||||
| chr20:36210171 | T | C | 1 | a0001c0008t0008g0042 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2079+273T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36210171 | |||||||
| chr20:36210687 | G | A | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2079+789G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36210687 | |||||||
| chr20:36210726 | C | T | 7 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(4): Show |
9 | HG01884.hp1 HG02559.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.2079+828C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36210726 | |||||||
| chr20:36210873 | G | T | 1 | a0001c0001t0001g0080 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2079+975G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36210873 | |||||||
| chr20:36211080 | C | A | 1 | a0001c0002t0010g0087 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2079+1182C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211080 | |||||||
| chr20:36211122 | CACACCTG others(14): Show |
C | 13 | a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 others(10): Show |
14 | HG01081.hp2 HG01261.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.2080-1149_2080-112 others(25): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211122 | |||||||
| chr20:36211192 | C | T | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2080-1080C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211192 | |||||||
| chr20:36211243 | T | C | 10 | a0001c0002t0009g0063 a0001c0002t0010g0014 a0001c0002t0010g0086 others(7): Show |
11 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.2080-1029T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211243 | |||||||
| chr20:36211267 | A | C | 2 | a0001c0001t0001g0028 a0001c0001t0001g0138 |
2 | HG01175.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.2080-1005A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211267 | |||||||
| chr20:36211279 | C | A | 1 | a0001c0002t0021g0039 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2080-993C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211279 | |||||||
| chr20:36211337 | C | T | 1 | a0001c0003t0006g0187 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2080-935C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211337 | |||||||
| chr20:36211581 | C | T | 1 | a0001c0001t0001g0146 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2080-691C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211581 | |||||||
| chr20:36211626 | G | T | 1 | a0001c0001t0001g0150 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2080-646G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211626 | |||||||
| chr20:36211823 | C | T | 10 | a0001c0002t0006g0038 a0001c0003t0006g0026 a0001c0003t0006g0179 others(7): Show |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.2080-449C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36211823 | |||||||
| chr20:36212042 | G | A | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2080-230G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | 36212042 | |||||||
| chr20:36212423 | T | C | 12 | a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 others(9): Show |
13 | HG01081.hp2 HG01261.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.2184+47T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36212423 | |||||||
| chr20:36212441 | T | G | 9 | a0001c0002t0011g0040 a0001c0002t0011g0189 a0001c0005t0008g0030 others(6): Show |
9 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.2184+65T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36212441 | |||||||
| chr20:36212650 | C | T | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2184+274C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36212650 | |||||||
| chr20:36212809 | T | C | 1 | a0001c0002t0003g0065 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2184+433T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36212809 | |||||||
| chr20:36213035 | TG | T | 5 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(2): Show |
6 | HG01243.hp2 HG01884.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2184+661delG | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr20 | 36213035 | ||||||
| chr20:36213510 | C | T | 1 | a0001c0001t0002g0127 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2185-847C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36213510 | |||||||
| chr20:36213591 | TTTTAGTA others(13): Show |
T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0171 |
2 | HG01943.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.2185-763_2185-744d others(22): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr20 | 36213591 | ||||||
| chr20:36213917 | T | C | 12 | a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 others(9): Show |
13 | HG01081.hp2 HG01261.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.2185-440T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36213917 | |||||||
| chr20:36214168 | C | T | 5 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(2): Show |
6 | HG01243.hp2 HG01884.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2185-189C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36214168 | |||||||
| chr20:36214338 | C | T | 1 | a0001c0002t0003g0009 | 2 | HG01069.hp2 HG01070.hp1 |
intron_variant | MODIFIER | c.2185-19C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 16/21 | chr20 | 36214338 | |||||||
| chr20:36214645 | A | T | 2 | a0001c0002t0012g0124 a0001c0002t0012g0125 |
2 | HG02145.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2268+205A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36214645 | |||||||
| chr20:36214649 | G | A | 5 | a0001c0002t0009g0063 a0001c0004t0009g0051 a0001c0004t0009g0052 others(2): Show |
5 | HG01109.hp2 HG02922.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2268+209G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36214649 | |||||||
| chr20:36214813 | C | T | 2 | a0001c0001t0004g0113 a0001c0011t0004g0119 |
2 | HG03041.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2268+373C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36214813 | |||||||
| chr20:36214880 | T | C | 10 | a0001c0002t0009g0063 a0001c0002t0010g0014 a0001c0002t0010g0086 others(7): Show |
11 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.2268+440T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36214880 | |||||||
| chr20:36215160 | A | T | 15 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(12): Show |
22 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.2268+720A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215160 | |||||||
| chr20:36215373 | G | C | 1 | a0001c0007t0008g0036 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2268+933G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215373 | |||||||
| chr20:36215383 | C | T | 46 | a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0017 others(43): Show |
55 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.2268+943C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215383 | |||||||
| chr20:36215476 | C | T | 5 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(2): Show |
6 | HG01243.hp2 HG01884.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2268+1036C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215476 | |||||||
| chr20:36215491 | T | C | 1 | a0001c0001t0002g0111 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2268+1051T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215491 | |||||||
| chr20:36215624 | C | T | 7 | a0001c0005t0008g0030 a0001c0005t0008g0031 a0001c0005t0008g0048 others(4): Show |
7 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2268+1184C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215624 | |||||||
| chr20:36215942 | C | T | 34 | a0001c0002t0006g0038 a0001c0002t0009g0063 a0001c0002t0010g0086 others(31): Show |
35 | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.2268+1502C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36215942 | |||||||
| chr20:36216446 | A | G | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2268+2006A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36216446 | |||||||
| chr20:36216565 | A | G | 15 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(12): Show |
22 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.2268+2125A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36216565 | |||||||
| chr20:36216940 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2269-1936A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36216940 | |||||||
| chr20:36217016 | G | A | 54 | a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 others(51): Show |
65 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(62): Show |
intron_variant | MODIFIER | c.2269-1860G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36217016 | |||||||
| chr20:36217669 | G | A | 1 | a0001c0008t0008g0042 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2269-1207G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36217669 | |||||||
| chr20:36218189 | G | A | 2 | a0001c0002t0010g0014 a0001c0002t0010g0086 |
3 | HG02818.hp1 HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.2269-687G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36218189 | |||||||
| chr20:36218289 | C | T | 13 | a0001c0002t0006g0038 a0001c0002t0012g0124 a0001c0002t0012g0125 others(10): Show |
14 | HG01081.hp2 HG01261.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.2269-587C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36218289 | |||||||
| chr20:36218400 | C | T | 10 | a0001c0002t0006g0038 a0001c0003t0006g0026 a0001c0003t0006g0179 others(7): Show |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.2269-476C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36218400 | |||||||
| chr20:36218864 | T | C | 2 | a0001c0001t0004g0120 a0001c0001t0004g0122 |
2 | HG02257.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2269-12T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 17/21 | chr20 | 36218864 | |||||||
| chr20:36219237 | T | C | 1 | a0001c0004t0009g0053 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2355+275T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 18/21 | chr20 | 36219237 | |||||||
| chr20:36219368 | C | T | 2 | a0001c0003t0006g0179 a0001c0003t0024g0180 |
2 | HG01081.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2356-393C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 18/21 | chr20 | 36219368 | |||||||
| chr20:36219555 | G | A | 10 | a0001c0002t0006g0038 a0001c0003t0006g0026 a0001c0003t0006g0179 others(7): Show |
11 | HG01081.hp2 HG01261.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.2356-206G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 18/21 | chr20 | 36219555 | |||||||
| chr20:36219697 | T | C | 23 | a0001c0002t0006g0038 a0001c0002t0009g0063 a0001c0002t0010g0014 others(20): Show |
25 | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.2356-64T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 18/21 | chr20 | 36219697 | |||||||
| chr20:36220034 | C | T | 1 | a0001c0001t0001g0169 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2439+190C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36220034 | |||||||
| chr20:36220157 | T | A | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2439+313T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36220157 | |||||||
| chr20:36220422 | G | C | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2439+578G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36220422 | |||||||
| chr20:36220656 | C | T | 1 | a0001c0013t0007g0035 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2439+812C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36220656 | |||||||
| chr20:36221160 | G | T | 2 | a0001c0001t0004g0120 a0001c0001t0004g0122 |
2 | HG02257.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2440-704G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221160 | |||||||
| chr20:36221283 | C | T | 1 | a0001c0001t0001g0128 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2440-581C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221283 | |||||||
| chr20:36221381 | C | T | 9 | a0001c0002t0011g0040 a0001c0002t0011g0189 a0001c0005t0008g0030 others(6): Show |
9 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.2440-483C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221381 | |||||||
| chr20:36221383 | T | C | 3 | a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0126 |
3 | HG00642.hp1 HG03139.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2440-481T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221383 | |||||||
| chr20:36221634 | C | T | 1 | a0001c0003t0024g0180 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2440-230C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221634 | |||||||
| chr20:36221660 | G | A | 1 | a0001c0001t0001g0163 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2440-204G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221660 | |||||||
| chr20:36221723 | G | C | 1 | a0001c0001t0001g0174 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.2440-141G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 19/21 | chr20 | 36221723 | |||||||
| chr20:36222097 | T | C | 2 | a0001c0001t0001g0166 a0004c0015t0001g0157 |
2 | NA18961.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.2520+153T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 20/21 | chr20 | 36222097 | |||||||
| chr20:36222231 | G | A | 2 | a0001c0007t0008g0036 a0001c0007t0008g0037 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.2521-47G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 20/21 | chr20 | 36222231 | |||||||
| chr20:36222579 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.2637+185G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222579 | |||||||
| chr20:36222663 | A | T | 1 | a0001c0001t0020g0181 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2637+269A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222663 | |||||||
| chr20:36222684 | T | C | 5 | a0001c0002t0009g0063 a0001c0004t0009g0051 a0001c0004t0009g0052 others(2): Show |
5 | HG01109.hp2 HG02922.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2637+290T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222684 | |||||||
| chr20:36222901 | T | G | 5 | a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0111 others(2): Show |
5 | HG00639.hp2 HG00738.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.2637+507T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222901 | |||||||
| chr20:36222906 | ATATTTT | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG02809.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2637+514_2637+519d others(8): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr20 | 36222906 | ||||||
| chr20:36222916 | A | C | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG02809.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2637+522A>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222916 | |||||||
| chr20:36222917 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG02809.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2637+523G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222917 | |||||||
| chr20:36222921 | G | C | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG02809.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2637+527G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36222921 | |||||||
| chr20:36223035 | C | T | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2637+641C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223035 | |||||||
| chr20:36223122 | C | T | 177 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(174): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
intron_variant | MODIFIER | c.2637+728C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223122 | |||||||
| chr20:36223178 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2637+784G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223178 | |||||||
| chr20:36223449 | T | C | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2637+1055T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223449 | |||||||
| chr20:36223610 | C | T | 1 | a0001c0003t0006g0186 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2637+1216C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223610 | |||||||
| chr20:36223631 | C | G | 1 | a0001c0014t0001g0154 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2637+1237C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223631 | |||||||
| chr20:36223767 | G | C | 54 | a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 others(51): Show |
65 | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(62): Show |
intron_variant | MODIFIER | c.2637+1373G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223767 | |||||||
| chr20:36223918 | C | A | 1 | a0001c0005t0019g0110 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2637+1524C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36223918 | |||||||
| chr20:36224118 | T | C | 6 | a0001c0002t0009g0063 a0001c0002t0021g0039 a0001c0004t0009g0051 others(3): Show |
6 | HG01109.hp2 HG02717.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2637+1724T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224118 | |||||||
| chr20:36224183 | T | C | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.2637+1789T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224183 | |||||||
| chr20:36224326 | T | A | 1 | a0001c0002t0009g0063 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2637+1932T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224326 | |||||||
| chr20:36224752 | A | G | 10 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0020 others(7): Show |
15 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.2637+2358A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224752 | |||||||
| chr20:36224829 | T | A | 3 | a0001c0005t0008g0030 a0001c0005t0008g0031 a0001c0005t0019g0110 |
3 | HG01243.hp2 HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.2637+2435T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224829 | |||||||
| chr20:36224915 | G | A | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2637+2521G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224915 | |||||||
| chr20:36224964 | G | A | 1 | a0001c0001t0001g0151 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2637+2570G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36224964 | |||||||
| chr20:36225340 | G | C | 1 | a0001c0003t0006g0187 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2637+2946G>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36225340 | |||||||
| chr20:36225589 | C | T | 1 | a0001c0001t0002g0178 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.2637+3195C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36225589 | |||||||
| chr20:36225600 | G | A | 2 | a0001c0001t0001g0139 a0001c0001t0001g0164 |
2 | NA18993.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.2637+3206G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36225600 | |||||||
| chr20:36225612 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.2637+3218G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36225612 | |||||||
| chr20:36225721 | A | G | 1 | a0001c0001t0013g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2637+3327A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36225721 | |||||||
| chr20:36225997 | C | G | 1 | a0001c0012t0011g0041 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2638-3335C>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36225997 | |||||||
| chr20:36226051 | G | T | 1 | a0001c0001t0001g0144 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2638-3281G>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36226051 | |||||||
| chr20:36226072 | T | G | 1 | a0001c0001t0001g0177 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2638-3260T>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36226072 | |||||||
| chr20:36226313 | G | A | 2 | a0001c0001t0001g0153 a0001c0001t0001g0171 |
2 | HG01943.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.2638-3019G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36226313 | |||||||
| chr20:36226661 | C | T | 5 | a0001c0001t0004g0019 a0001c0001t0004g0114 a0001c0001t0004g0115 others(2): Show |
7 | HG01361.hp2 HG02109.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.2638-2671C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36226661 | |||||||
| chr20:36226774 | A | G | 10 | a0001c0002t0009g0063 a0001c0002t0010g0014 a0001c0002t0010g0086 others(7): Show |
11 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.2638-2558A>G | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36226774 | |||||||
| chr20:36227116 | A | T | 1 | a0001c0003t0006g0179 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2638-2216A>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227116 | |||||||
| chr20:36227130 | C | A | 1 | a0001c0001t0001g0149 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2638-2202C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227130 | |||||||
| chr20:36227216 | T | C | 5 | a0001c0002t0009g0063 a0001c0004t0009g0051 a0001c0004t0009g0052 others(2): Show |
5 | HG01109.hp2 HG02922.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2638-2116T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227216 | |||||||
| chr20:36227222 | C | T | 5 | a0001c0002t0009g0063 a0001c0004t0009g0051 a0001c0004t0009g0052 others(2): Show |
5 | HG01109.hp2 HG02922.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2638-2110C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227222 | |||||||
| chr20:36227223 | G | A | 1 | a0001c0002t0005g0060 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.2638-2109G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227223 | |||||||
| chr20:36227267 | T | C | 9 | a0001c0002t0011g0040 a0001c0002t0011g0189 a0001c0005t0008g0030 others(6): Show |
9 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.2638-2065T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227267 | |||||||
| chr20:36227273 | C | T | 2 | a0001c0005t0008g0030 a0001c0005t0008g0031 |
2 | HG02486.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.2638-2059C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227273 | |||||||
| chr20:36227433 | C | T | 6 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(3): Show |
7 | HG01884.hp1 HG02451.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.2638-1899C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227433 | |||||||
| chr20:36227614 | C | A | 4 | a0001c0002t0010g0014 a0001c0002t0010g0086 a0001c0002t0010g0087 others(1): Show |
5 | HG01884.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2638-1718C>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227614 | |||||||
| chr20:36227615 | G | A | 19 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(16): Show |
26 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(23): Show |
intron_variant | MODIFIER | c.2638-1717G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227615 | |||||||
| chr20:36227652 | T | A | 2 | a0001c0002t0003g0070 a0001c0002t0022g0067 |
2 | HG00558.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.2638-1680T>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227652 | |||||||
| chr20:36227852 | C | T | 2 | a0001c0002t0012g0124 a0001c0002t0012g0125 |
2 | HG02145.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2638-1480C>T | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36227852 | |||||||
| chr20:36228110 | G | A | 1 | a0001c0013t0007g0035 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2638-1222G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36228110 | |||||||
| chr20:36228526 | T | C | 28 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 others(25): Show |
35 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(32): Show |
intron_variant | MODIFIER | c.2638-806T>C | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36228526 | |||||||
| chr20:36228788 | G | A | 1 | a0001c0002t0003g0065 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2638-544G>A | EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 21/21 | chr20 | 36228788 |