Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 55768 |
| ensemblid | ENSG00000151092.18 |
| hgncid | 17646 |
| symbol | NGLY1 |
| name | N-glycanase 1 |
| refseq_nuc | NM_018297.4 |
| refseq_prot | NP_060767.2 |
| ensembl_nuc | ENST00000280700.10 |
| ensembl_prot | ENSP00000280700.5 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 25718944 |
| end | 25783443 |
| strand | - |
| ver | v1.2 |
| region | chr3:25718944-25783443 |
| region5000 | chr3:25713944-25788443 |
| regionname0 | NGLY1_chr3_25718944_25783443 |
| regionname5000 | NGLY1_chr3_25713944_25788443 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 654 | 262 | 92 | 60 | 74 | 4 | 30 | 58 | NGLY1_chr3_25713944_25788443 | NGLY1 | MAAAA others(649): Show |
chr3 | 25713944 | 25788443 |
| a0002 | 0/0 | 654 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | MAAAA others(649): Show |
chr3 | 25713944 | 25788443 |
| a0003 | 0/0 | 654 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | MAAAA others(649): Show |
chr3 | 25713944 | 25788443 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1962 | 253 | 88 | 60 | 69 | 4 | 30 | NGLY1_chr3_25713944_25788443 | NGLY1 | ATGGC others(1957): Show |
chr3 | 25713944 | 25788443 | ||
| a0001c0002 | 0/0 | 1962 | 4 | 4 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | ATGGC others(1957): Show |
chr3 | 25713944 | 25788443 | ||
| a0001c0003 | 0/0 | 1962 | 4 | 0 | 0 | 4 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | ATGGC others(1957): Show |
chr3 | 25713944 | 25788443 | ||
| a0001c0004 | 0/0 | 1962 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | ATGGC others(1957): Show |
chr3 | 25713944 | 25788443 | ||
| a0002c0006 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | ATGGC others(1957): Show |
chr3 | 25713944 | 25788443 | ||
| a0003c0005 | 0/0 | 1962 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | ATGGC others(1957): Show |
chr3 | 25713944 | 25788443 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 2534 | 236 | 74 | 58 | 69 | 4 | 29 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0001t0002 | 0/0 | 2534 | 8 | 8 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0001t0003 | 0/0 | 2534 | 3 | 3 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0001t0004 | 0/0 | 2529 | 3 | 2 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2524): Show |
chr3 | 25713944 | 25788443 |
| a0001c0001t0005 | 0/0 | 2534 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0001t0006 | 0/0 | 2534 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0001t0007 | 0/0 | 2534 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0002t0001 | 0/0 | 2534 | 4 | 4 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0003t0001 | 0/0 | 2534 | 4 | 0 | 0 | 4 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0001c0004t0001 | 0/0 | 2534 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0002c0006t0001 | 0/0 | 2534 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| a0003c0005t0001 | 0/0 | 2534 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | AGTGT others(2529): Show |
chr3 | 25713944 | 25788443 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0065 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0193 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0004g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0004g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0004g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0005g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0006g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0001t0007g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0002t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0002t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0002t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0002t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0003t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0003t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0003t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0003t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0001c0004t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0002c0006t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| a0003c0005t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0126 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0205 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | CHS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0201 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0099 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0100 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0147 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0251 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0237 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0049 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0173 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0200 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0234 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0181 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0242 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0140 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01169 | hp1 | a0001 | c0001 | t0007 | g0166 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0246 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0241 | AMR | PUR | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0127 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0075 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0177 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0053 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01358 | hp2 | a0001 | c0001 | t0006 | g0172 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0199 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0150 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0196 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0021 | AMR | CLM | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0026 | EUR | IBS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0141 | EUR | IBS | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0222 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0091 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0202 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0229 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0078 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0175 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0185 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | KHV | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | KHV | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0062 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0081 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0219 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0187 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0236 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0192 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0233 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0214 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0183 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0014 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0210 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0186 | AMR | PEL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0217 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0252 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0213 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0215 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0235 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02717 | hp2 | a0001 | c0002 | t0001 | g0051 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0250 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02723 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0195 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0194 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0040 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02809 | hp2 | a0001 | c0002 | t0001 | g0057 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02818 | hp1 | a0001 | c0002 | t0001 | g0061 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0228 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0018 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02896 | hp1 | a0001 | c0001 | t0002 | g0017 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0248 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0019 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0067 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0249 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0063 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0008 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0231 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02976 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0212 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0093 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0016 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0240 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0230 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03195 | hp1 | a0001 | c0001 | t0003 | g0010 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0059 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0223 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0015 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0156 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0239 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0211 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0079 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0245 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0084 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0033 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0082 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0154 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | ESN | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0232 | AFR | GWD | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0244 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0036 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03688 | hp1 | a0001 | c0001 | t0004 | g0090 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0149 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0198 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0083 | SAS | PJL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0128 | SAS | BEB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0028 | SAS | BEB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0120 | SAS | BEB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0174 | SAS | BEB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0169 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0121 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0129 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0089 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0058 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0108 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0103 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0037 | SAS | STU | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0095 | AFR | YRI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0218 | AFR | YRI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | CHB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0227 | AFR | YRI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0064 | AFR | YRI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18963 | hp2 | a0001 | c0004 | t0001 | g0020 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18971 | hp2 | a0001 | c0003 | t0001 | g0145 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18994 | hp1 | a0001 | c0003 | t0001 | g0107 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0220 | AFR | LWK | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0080 | AFR | LWK | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | LWK | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19043 | hp2 | a0003 | c0005 | t0001 | g0146 | AFR | LWK | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19074 | hp1 | a0001 | c0003 | t0001 | g0143 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19076 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19079 | hp2 | a0001 | c0003 | t0001 | g0111 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19240 | hp1 | a0001 | c0002 | t0001 | g0050 | AFR | YRI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0254 | AFR | YRI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0221 | AFR | ASW | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0138 | AFR | ASW | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0124 | EUR | TSI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0243 | EUR | TSI | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0025 | SAS | GIH | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0168 | SAS | GIH | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02109 | hp1 | a0001 | c0001 | t0004 | g0255 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02109 | hp2 | a0002 | c0006 | t0001 | g0224 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0009 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0247 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG02559 | hp2 | a0001 | c0001 | t0004 | g0256 | AFR | ACB | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0060 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0226 | AFR | MSL | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0225 | AFR | USA | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0253 | AFR | USA | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0238 | AFR | USA | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | USA | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0206 | AFR | LWK | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| NA21309 | hp2 | a0001 | c0001 | t0005 | g0011 | AFR | LWK | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0193 | REF | REF | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0065 | REF | REF | NGLY1_chr3_25713944_25788443 | NGLY1 | chr3 | 25713944 | 25788443 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:25729136 | G | T | 1 | a0003 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1608C>A | p.His536Gln | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/12 | 1661/2534 | 1608/1965 | 536/654 | chr3 | 25729136 | |||
| chr3:25729165 | T | C | 1 | a0002 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.1579A>G | p.Ile527Val | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/12 | 1632/2534 | 1579/1965 | 527/654 | chr3 | 25729165 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:25719550 | G | C | 1 | a0001c0003 | 4 | NA18971.hp2 NA18994.hp1 NA19074.hp1 others(1): Show |
synonymous_variant | LOW | c.1875C>G | p.Val625Val | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 12/12 | 1928/2534 | 1875/1965 | 625/654 | chr3 | 25719550 | |||
| chr3:25719556 | A | G | 1 | a0001c0002 | 4 | HG02717.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
synonymous_variant | LOW | c.1869T>C | p.Gly623Gly | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 12/12 | 1922/2534 | 1869/1965 | 623/654 | chr3 | 25719556 | |||
| chr3:25783334 | C | T | 1 | a0001c0004 | 1 | NA18963.hp2 | synonymous_variant | LOW | c.57G>A | p.Glu19Glu | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/12 | 110/2534 | 57/1965 | 19/654 | chr3 | 25783334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:25719066 | CTAATT | C | 1 | a0001c0001t0004 | 3 | HG02109.hp1 HG02559.hp2 HG03688.hp1 |
3_prime_UTR_variant | MODIFIER | c.*389_*393delAATTA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 12/12 | 389 | chr3 | 25719066 | ||||||
| chr3:25719096 | G | C | 1 | a0001c0001t0007 | 1 | HG01169.hp1 | 3_prime_UTR_variant | MODIFIER | c.*364C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 12/12 | 364 | chr3 | 25719096 | ||||||
| chr3:25719131 | C | G | 1 | a0001c0001t0006 | 1 | HG01358.hp2 | 3_prime_UTR_variant | MODIFIER | c.*329G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 12/12 | 329 | chr3 | 25719131 | ||||||
| chr3:25783398 | C | T | 1 | a0001c0001t0002 | 8 | HG02280.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-8G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/12 | 8 | chr3 | 25783398 | ||||||
| chr3:25783421 | C | T | 1 | a0001c0001t0005 | 1 | NA21309.hp2 | 5_prime_UTR_variant | MODIFIER | c.-31G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/12 | 31 | chr3 | 25783421 | ||||||
| chr3:25783433 | C | G | 1 | a0001c0001t0003 | 3 | HG02486.hp1 HG02970.hp1 HG03195.hp1 |
5_prime_UTR_variant | MODIFIER | c.-43G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/12 | 43 | chr3 | 25783433 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:25719779 | A | G | 2 | a0001c0001t0001g0125 a0001c0001t0001g0165 |
2 | NA18981.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1790-144T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 11/11 | chr3 | 25719779 | |||||||
| chr3:25719859 | T | C | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1789+155A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 11/11 | chr3 | 25719859 | |||||||
| chr3:25719869 | C | T | 2 | a0001c0001t0001g0095 a0001c0001t0001g0098 |
2 | HG02145.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1789+145G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 11/11 | chr3 | 25719869 | |||||||
| chr3:25719882 | A | AT | 134 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(131): Show |
140 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(137): Show |
intron_variant | MODIFIER | c.1789+131dupA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 11/11 | chr3 | 25719882 | |||||||
| chr3:25719925 | C | A | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1789+89G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 11/11 | chr3 | 25719925 | |||||||
| chr3:25720468 | T | A | 104 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(101): Show |
109 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(106): Show |
intron_variant | MODIFIER | c.1612-277A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25720468 | |||||||
| chr3:25720621 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1612-430A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25720621 | |||||||
| chr3:25720968 | A | ATAAT | 128 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(125): Show |
134 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(131): Show |
intron_variant | MODIFIER | c.1612-778_1612-777i others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25720968 | |||||||
| chr3:25720997 | T | TACTG | 3 | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0077 |
4 | HG02615.hp1 HG03516.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1612-810_1612-807d others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25720997 | |||||||
| chr3:25721078 | C | T | 253 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(250): Show |
261 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(258): Show |
intron_variant | MODIFIER | c.1612-887G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721078 | |||||||
| chr3:25721115 | G | T | 1 | a0001c0001t0001g0049 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1612-924C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721115 | |||||||
| chr3:25721133 | C | T | 1 | a0001c0001t0001g0147 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1612-942G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721133 | |||||||
| chr3:25721208 | A | G | 1 | a0001c0001t0001g0230 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1612-1017T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721208 | |||||||
| chr3:25721347 | T | A | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG02280.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1612-1156A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721347 | |||||||
| chr3:25721396 | T | G | 1 | a0001c0001t0001g0079 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1612-1205A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721396 | |||||||
| chr3:25721481 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1612-1290G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721481 | |||||||
| chr3:25721552 | A | G | 128 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(125): Show |
134 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(131): Show |
intron_variant | MODIFIER | c.1612-1361T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721552 | |||||||
| chr3:25721692 | T | C | 10 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(7): Show |
11 | HG00639.hp2 HG01109.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1612-1501A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721692 | |||||||
| chr3:25721748 | C | CA | 14 | a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0044 others(11): Show |
14 | HG02027.hp1 HG02145.hp2 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.1612-1558dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721748 | |||||||
| chr3:25721748 | CA | C | 51 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0039 others(48): Show |
52 | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(49): Show |
intron_variant | MODIFIER | c.1612-1558delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721748 | |||||||
| chr3:25721748 | CAA | C | 98 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(95): Show |
103 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(100): Show |
intron_variant | MODIFIER | c.1612-1559_1612-155 others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721748 | |||||||
| chr3:25721748 | CAAA | C | 11 | a0001c0001t0001g0022 a0001c0001t0001g0133 a0001c0001t0001g0191 others(8): Show |
11 | HG02280.hp1 HG02451.hp1 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.1612-1560_1612-155 others(7): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721748 | |||||||
| chr3:25721813 | A | G | 4 | a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0223 others(1): Show |
4 | HG01934.hp2 HG02280.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1612-1622T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25721813 | |||||||
| chr3:25722052 | T | C | 107 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(104): Show |
112 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(109): Show |
intron_variant | MODIFIER | c.1612-1861A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722052 | |||||||
| chr3:25722165 | C | T | 1 | a0001c0001t0001g0138 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1612-1974G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722165 | |||||||
| chr3:25722204 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1612-2013C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722204 | |||||||
| chr3:25722226 | AT | A | 10 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(7): Show |
11 | HG00639.hp2 HG01109.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1612-2036delA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722226 | |||||||
| chr3:25722272 | C | CATAT | 10 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(7): Show |
11 | HG00639.hp2 HG01109.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1612-2082_1612-208 others(8): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722272 | |||||||
| chr3:25722274 | C | CACACAT | 4 | a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0001g0161 others(1): Show |
4 | HG00733.hp1 HG01433.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.1612-2084_1612-208 others(10): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CACACATA others(1): Show |
3 | a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0179 |
3 | HG00438.hp1 HG00621.hp2 HG01943.hp2 |
intron_variant | MODIFIER | c.1612-2084_1612-208 others(12): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CACATAT | 72 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(69): Show |
76 | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.1612-2084_1612-208 others(10): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CACATATA others(1): Show |
6 | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 others(3): Show |
6 | HG00642.hp2 HG01167.hp2 HG03239.hp1 others(3): Show |
intron_variant | MODIFIER | c.1612-2084_1612-208 others(12): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CAT | 4 | a0001c0001t0001g0081 a0001c0001t0001g0210 a0001c0001t0001g0223 others(1): Show |
4 | HG02055.hp2 HG02257.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.1612-2085_1612-208 others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CATATATA others(1): Show |
12 | a0001c0001t0001g0004 a0001c0001t0001g0112 a0001c0001t0001g0113 others(9): Show |
13 | HG00621.hp1 HG01081.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1612-2091_1612-208 others(12): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CATATATA others(3): Show |
3 | a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 |
3 | HG03942.hp1 HG04115.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1612-2093_1612-208 others(14): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | CATATATA others(5): Show |
1 | a0001c0001t0001g0103 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1612-2095_1612-208 others(16): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722274 | C | T | 23 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0097 others(20): Show |
25 | HG00639.hp2 HG01109.hp1 HG01257.hp1 others(22): Show |
intron_variant | MODIFIER | c.1612-2083G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722274 | |||||||
| chr3:25722361 | T | C | 1 | a0001c0001t0001g0170 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1612-2170A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722361 | |||||||
| chr3:25722602 | C | T | 10 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(7): Show |
11 | HG00639.hp2 HG01109.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1612-2411G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25722602 | |||||||
| chr3:25723129 | T | C | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1612-2938A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723129 | |||||||
| chr3:25723156 | A | G | 2 | a0001c0001t0001g0248 a0001c0001t0001g0250 |
2 | HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1612-2965T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723156 | |||||||
| chr3:25723257 | T | C | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1612-3066A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723257 | |||||||
| chr3:25723369 | A | C | 1 | a0001c0001t0002g0013 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1612-3178T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723369 | |||||||
| chr3:25723440 | A | G | 1 | a0001c0001t0001g0206 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1612-3249T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723440 | |||||||
| chr3:25723523 | T | G | 3 | a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0223 |
3 | HG02280.hp2 HG03209.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1612-3332A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723523 | |||||||
| chr3:25723541 | C | A | 6 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(3): Show |
7 | HG00639.hp2 HG02258.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1612-3350G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723541 | |||||||
| chr3:25723583 | A | AT | 141 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(138): Show |
147 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.1612-3393_1612-339 others(5): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723583 | |||||||
| chr3:25723761 | T | A | 118 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(115): Show |
123 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(120): Show |
intron_variant | MODIFIER | c.1612-3570A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723761 | |||||||
| chr3:25723821 | A | C | 3 | a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 |
3 | HG02723.hp2 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1612-3630T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25723821 | |||||||
| chr3:25724022 | T | C | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1612-3831A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724022 | |||||||
| chr3:25724252 | G | T | 119 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(116): Show |
124 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(121): Show |
intron_variant | MODIFIER | c.1612-4061C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724252 | |||||||
| chr3:25724375 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1612-4184G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724375 | |||||||
| chr3:25724442 | T | C | 139 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(136): Show |
145 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.1612-4251A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724442 | |||||||
| chr3:25724543 | C | T | 3 | a0001c0003t0001g0107 a0001c0003t0001g0143 a0001c0003t0001g0145 |
3 | NA18971.hp2 NA18994.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.1612-4352G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724543 | |||||||
| chr3:25724633 | T | C | 1 | a0001c0001t0001g0197 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1612-4442A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724633 | |||||||
| chr3:25724903 | T | C | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.1611+4230A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724903 | |||||||
| chr3:25724985 | C | T | 1 | a0001c0001t0001g0206 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1611+4148G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25724985 | |||||||
| chr3:25725646 | T | C | 1 | a0001c0001t0001g0116 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.1611+3487A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25725646 | |||||||
| chr3:25725759 | T | A | 1 | a0001c0001t0001g0150 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1611+3374A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25725759 | |||||||
| chr3:25725811 | T | C | 115 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(112): Show |
120 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.1611+3322A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25725811 | |||||||
| chr3:25725826 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1611+3307C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25725826 | |||||||
| chr3:25725944 | C | T | 2 | a0001c0001t0001g0136 a0001c0001t0001g0155 |
2 | NA18973.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1611+3189G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25725944 | |||||||
| chr3:25726154 | C | T | 1 | a0001c0002t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1611+2979G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726154 | |||||||
| chr3:25726197 | T | C | 117 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(114): Show |
122 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.1611+2936A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726197 | |||||||
| chr3:25726269 | T | A | 1 | a0001c0001t0001g0147 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1611+2864A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726269 | |||||||
| chr3:25726348 | T | C | 3 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 |
3 | HG00735.hp2 HG01243.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1611+2785A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726348 | |||||||
| chr3:25726549 | A | C | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1611+2584T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726549 | |||||||
| chr3:25726587 | A | G | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.1611+2546T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726587 | |||||||
| chr3:25726734 | C | T | 1 | a0001c0001t0001g0239 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1611+2399G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726734 | |||||||
| chr3:25726839 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1611+2294G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726839 | |||||||
| chr3:25726840 | G | A | 1 | a0001c0001t0001g0094 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1611+2293C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25726840 | |||||||
| chr3:25727131 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1611+2002C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727131 | |||||||
| chr3:25727140 | A | C | 2 | a0001c0001t0001g0220 a0001c0001t0001g0222 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1611+1993T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727140 | |||||||
| chr3:25727164 | C | T | 9 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 others(6): Show |
9 | NA18973.hp1 NA18983.hp1 NA18994.hp2 others(6): Show |
intron_variant | MODIFIER | c.1611+1969G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727164 | |||||||
| chr3:25727420 | C | T | 12 | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 others(9): Show |
12 | HG00741.hp1 HG03491.hp2 HG03492.hp1 others(9): Show |
intron_variant | MODIFIER | c.1611+1713G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727420 | |||||||
| chr3:25727613 | C | T | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1611+1520G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727613 | |||||||
| chr3:25727726 | A | G | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.1611+1407T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727726 | |||||||
| chr3:25727729 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1611+1404C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727729 | |||||||
| chr3:25727767 | G | A | 18 | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0038 others(15): Show |
19 | HG02486.hp2 HG02615.hp1 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.1611+1366C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25727767 | |||||||
| chr3:25728397 | A | G | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.1611+736T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728397 | |||||||
| chr3:25728425 | T | A | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1611+708A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728425 | |||||||
| chr3:25728528 | T | C | 1 | a0001c0001t0001g0083 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1611+605A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728528 | |||||||
| chr3:25728659 | C | T | 1 | a0001c0001t0001g0048 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1611+474G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728659 | |||||||
| chr3:25728685 | T | C | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1611+448A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728685 | |||||||
| chr3:25728693 | T | C | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1611+440A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728693 | |||||||
| chr3:25728836 | T | C | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.1611+297A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 10/11 | chr3 | 25728836 | |||||||
| chr3:25729435 | T | C | 1 | a0001c0001t0001g0005 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1426-117A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25729435 | |||||||
| chr3:25729787 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1426-469C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25729787 | |||||||
| chr3:25729857 | T | G | 1 | a0001c0001t0001g0131 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1426-539A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25729857 | |||||||
| chr3:25729927 | C | T | 6 | a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0002t0001g0050 others(3): Show |
6 | HG02717.hp2 HG02809.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1426-609G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25729927 | |||||||
| chr3:25730034 | C | T | 3 | a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0223 |
3 | HG02280.hp2 HG03209.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1426-716G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730034 | |||||||
| chr3:25730046 | G | A | 1 | a0001c0001t0001g0147 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1426-728C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730046 | |||||||
| chr3:25730088 | G | T | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.1426-770C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730088 | |||||||
| chr3:25730173 | A | G | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG01109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1426-855T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730173 | |||||||
| chr3:25730364 | G | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1426-1046C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730364 | |||||||
| chr3:25730367 | C | G | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1426-1049G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730367 | |||||||
| chr3:25730373 | A | T | 1 | a0001c0001t0001g0028 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1426-1055T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730373 | |||||||
| chr3:25730466 | T | C | 1 | a0001c0001t0001g0152 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1426-1148A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730466 | |||||||
| chr3:25730882 | T | C | 1 | a0001c0002t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1425+1437A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730882 | |||||||
| chr3:25730890 | C | A | 1 | a0001c0002t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1425+1429G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730890 | |||||||
| chr3:25730892 | T | A | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.1425+1427A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730892 | |||||||
| chr3:25730950 | C | A | 1 | a0001c0001t0001g0226 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1425+1369G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25730950 | |||||||
| chr3:25731168 | T | C | 4 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(1): Show |
4 | NA18982.hp1 NA18984.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.1425+1151A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25731168 | |||||||
| chr3:25731255 | C | A | 5 | a0001c0001t0001g0022 a0001c0001t0001g0228 a0001c0001t0001g0229 others(2): Show |
5 | HG01934.hp2 HG02109.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1425+1064G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25731255 | |||||||
| chr3:25731407 | T | C | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1425+912A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25731407 | |||||||
| chr3:25731515 | C | A | 5 | a0001c0001t0001g0022 a0001c0001t0001g0228 a0001c0001t0001g0229 others(2): Show |
5 | HG01934.hp2 HG02109.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1425+804G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25731515 | |||||||
| chr3:25731547 | A | G | 2 | a0001c0001t0001g0159 a0001c0001t0001g0168 |
2 | NA18984.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1425+772T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25731547 | |||||||
| chr3:25731776 | C | G | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1425+543G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25731776 | |||||||
| chr3:25732106 | T | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.1425+213A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25732106 | |||||||
| chr3:25732269 | A | G | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.1425+50T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 9/11 | chr3 | 25732269 | |||||||
| chr3:25732494 | T | C | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1261-11A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25732494 | |||||||
| chr3:25732531 | T | C | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1261-48A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25732531 | |||||||
| chr3:25732923 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | HG03942.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1261-440C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25732923 | |||||||
| chr3:25733037 | A | C | 1 | a0001c0001t0001g0140 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1261-554T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733037 | |||||||
| chr3:25733161 | C | G | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.1261-678G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733161 | |||||||
| chr3:25733179 | C | T | 177 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(174): Show |
183 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(180): Show |
intron_variant | MODIFIER | c.1260+693G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733179 | |||||||
| chr3:25733322 | T | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.1260+550A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733322 | |||||||
| chr3:25733383 | T | G | 3 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 |
3 | HG02886.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1260+489A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733383 | |||||||
| chr3:25733458 | C | T | 1 | a0001c0001t0001g0199 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1260+414G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733458 | |||||||
| chr3:25733466 | C | CGT | 6 | a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0072 others(3): Show |
6 | HG02055.hp1 HG02895.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1260+404_1260+405d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | C | CGTGT | 3 | a0001c0001t0001g0063 a0001c0001t0001g0117 a0001c0003t0001g0111 |
3 | HG02965.hp2 NA19007.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1260+402_1260+405d others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | C | CGTGTAT | 4 | a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0233 others(1): Show |
4 | HG01891.hp1 HG02258.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1260+405_1260+406i others(8): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | C | CGTGTATG others(3): Show |
1 | a0001c0001t0001g0231 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1260+405_1260+406i others(12): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGT | C | 55 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show |
59 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(56): Show |
intron_variant | MODIFIER | c.1260+404_1260+405d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGT | C | 50 | a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0035 others(47): Show |
51 | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1260+402_1260+405d others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGT | C | 45 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 others(42): Show |
45 | HG00621.hp2 HG00642.hp1 HG01074.hp1 others(42): Show |
intron_variant | MODIFIER | c.1260+400_1260+405d others(8): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGTG others(1): Show |
C | 18 | a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0119 others(15): Show |
18 | HG00642.hp2 HG00733.hp1 HG01081.hp1 others(15): Show |
intron_variant | MODIFIER | c.1260+398_1260+405d others(10): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGTG others(3): Show |
C | 1 | a0001c0001t0001g0194 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1260+396_1260+405d others(12): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGTG others(5): Show |
C | 4 | a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0160 others(1): Show |
4 | HG01361.hp1 HG01433.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.1260+394_1260+405d others(14): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGTG others(7): Show |
C | 1 | a0001c0001t0001g0058 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1260+392_1260+405d others(16): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGTG others(9): Show |
C | 3 | a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0235 |
3 | HG01109.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1260+390_1260+405d others(18): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733466 | CGTGTGTG others(15): Show |
C | 3 | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0060 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1260+384_1260+405d others(24): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733466 | |||||||
| chr3:25733469 | G | GTA | 20 | a0001c0001t0001g0021 a0001c0001t0001g0228 a0001c0001t0001g0230 others(17): Show |
20 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.1260+402_1260+403i others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733469 | |||||||
| chr3:25733471 | G | A | 6 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0225 others(3): Show |
7 | HG02451.hp1 HG03130.hp2 HG03239.hp2 others(4): Show |
intron_variant | MODIFIER | c.1260+401C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733471 | |||||||
| chr3:25733472 | T | C | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1260+400A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733472 | |||||||
| chr3:25733473 | G | A | 3 | a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0005g0011 |
3 | HG02559.hp1 HG03130.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1260+399C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733473 | |||||||
| chr3:25733475 | G | A | 4 | a0001c0001t0001g0213 a0001c0001t0002g0017 a0001c0001t0002g0018 others(1): Show |
4 | HG02615.hp2 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1260+397C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733475 | |||||||
| chr3:25733477 | G | A | 8 | a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0219 others(5): Show |
8 | HG01934.hp2 HG02109.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.1260+395C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733477 | |||||||
| chr3:25733479 | G | A | 10 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 others(7): Show |
10 | HG02258.hp2 HG02280.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.1260+393C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733479 | |||||||
| chr3:25733487 | G | A | 3 | a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0235 |
3 | HG01109.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1260+385C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733487 | |||||||
| chr3:25733632 | A | T | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.1260+240T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733632 | |||||||
| chr3:25733762 | T | C | 138 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
144 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.1260+110A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733762 | |||||||
| chr3:25733865 | A | C | 177 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(174): Show |
183 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(180): Show |
splice_region_variant&intron_variant | LOW | c.1260+7T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 8/11 | chr3 | 25733865 | |||||||
| chr3:25734385 | G | A | 5 | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show |
5 | HG02055.hp1 HG02818.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1150-403C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734385 | |||||||
| chr3:25734758 | C | T | 1 | a0001c0001t0001g0163 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.1150-776G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734758 | |||||||
| chr3:25734765 | G | T | 24 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(21): Show |
24 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.1150-783C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734765 | |||||||
| chr3:25734790 | A | G | 138 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
144 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.1150-808T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734790 | |||||||
| chr3:25734798 | T | C | 1 | a0001c0001t0001g0106 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1150-816A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734798 | |||||||
| chr3:25734813 | C | T | 1 | a0001c0001t0001g0223 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1150-831G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734813 | |||||||
| chr3:25734816 | T | C | 15 | a0001c0001t0001g0004 a0001c0001t0001g0103 a0001c0001t0001g0112 others(12): Show |
16 | HG00621.hp1 HG01081.hp1 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1150-834A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734816 | |||||||
| chr3:25734844 | A | T | 3 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0154 |
3 | HG01515.hp2 HG03492.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.1150-862T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734844 | |||||||
| chr3:25734860 | T | G | 95 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show |
99 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(96): Show |
intron_variant | MODIFIER | c.1150-878A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734860 | |||||||
| chr3:25734969 | T | C | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1150-987A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25734969 | |||||||
| chr3:25735060 | T | C | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1149+944A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735060 | |||||||
| chr3:25735210 | T | C | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1149+794A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735210 | |||||||
| chr3:25735362 | A | G | 3 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0154 |
3 | HG01515.hp2 HG03492.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.1149+642T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735362 | |||||||
| chr3:25735490 | A | G | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1149+514T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735490 | |||||||
| chr3:25735581 | C | T | 15 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(12): Show |
15 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(12): Show |
intron_variant | MODIFIER | c.1149+423G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735581 | |||||||
| chr3:25735646 | A | G | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1149+358T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735646 | |||||||
| chr3:25735869 | C | T | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG01109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1149+135G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735869 | |||||||
| chr3:25735961 | A | G | 3 | a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0176 |
3 | HG00438.hp2 NA18981.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.1149+43T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 7/11 | chr3 | 25735961 | |||||||
| chr3:25736187 | A | C | 1 | a0001c0001t0001g0094 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1004-38T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 6/11 | chr3 | 25736187 | |||||||
| chr3:25736370 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1004-221C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 6/11 | chr3 | 25736370 | |||||||
| chr3:25736723 | T | C | 23 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show |
23 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.1004-574A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 6/11 | chr3 | 25736723 | |||||||
| chr3:25736846 | G | A | 8 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(5): Show |
9 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1003+488C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 6/11 | chr3 | 25736846 | |||||||
| chr3:25737017 | C | T | 1 | a0001c0002t0001g0057 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1003+317G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 6/11 | chr3 | 25737017 | |||||||
| chr3:25737544 | A | AT | 5 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(2): Show |
5 | HG01071.hp2 HG01433.hp1 HG01433.hp2 others(2): Show |
intron_variant | MODIFIER | c.882-90dupA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25737544 | |||||||
| chr3:25737551 | T | C | 23 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show |
23 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.882-96A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25737551 | |||||||
| chr3:25737805 | A | G | 9 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.882-350T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25737805 | |||||||
| chr3:25737812 | G | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.882-357C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25737812 | |||||||
| chr3:25737968 | G | A | 138 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
144 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.882-513C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25737968 | |||||||
| chr3:25738316 | G | A | 23 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show |
23 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.882-861C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25738316 | |||||||
| chr3:25738675 | C | A | 1 | a0001c0001t0001g0243 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.881+902G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25738675 | |||||||
| chr3:25738682 | G | A | 5 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0231 others(2): Show |
6 | HG00639.hp2 HG02258.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.881+895C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25738682 | |||||||
| chr3:25738803 | G | A | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.881+774C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25738803 | |||||||
| chr3:25738935 | A | C | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.881+642T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25738935 | |||||||
| chr3:25738937 | T | C | 1 | a0001c0001t0001g0185 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.881+640A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25738937 | |||||||
| chr3:25739569 | G | A | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | splice_region_variant&intron_variant | LOW | c.881+8C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 5/11 | chr3 | 25739569 | |||||||
| chr3:25739901 | T | A | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.659-102A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25739901 | |||||||
| chr3:25740081 | G | A | 1 | a0001c0001t0001g0239 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.659-282C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740081 | |||||||
| chr3:25740167 | A | T | 181 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(178): Show |
187 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(184): Show |
intron_variant | MODIFIER | c.659-368T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740167 | |||||||
| chr3:25740322 | C | A | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.659-523G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740322 | |||||||
| chr3:25740323 | C | A | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.659-524G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740323 | |||||||
| chr3:25740416 | G | T | 5 | a0001c0001t0001g0022 a0001c0001t0001g0228 a0001c0001t0001g0229 others(2): Show |
5 | HG01934.hp2 HG02109.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.659-617C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740416 | |||||||
| chr3:25740558 | A | G | 2 | a0001c0001t0001g0218 a0001c0001t0001g0219 |
2 | HG02145.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.659-759T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740558 | |||||||
| chr3:25740866 | G | C | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.659-1067C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740866 | |||||||
| chr3:25740945 | G | A | 1 | a0001c0001t0001g0208 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.659-1146C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25740945 | |||||||
| chr3:25741019 | T | C | 9 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.659-1220A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741019 | |||||||
| chr3:25741130 | T | TA | 13 | a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0115 others(10): Show |
13 | HG01258.hp2 HG01433.hp1 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.659-1332dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741130 | |||||||
| chr3:25741130 | TA | T | 19 | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0039 others(16): Show |
19 | HG00639.hp2 HG00735.hp1 HG01934.hp2 others(16): Show |
intron_variant | MODIFIER | c.659-1332delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741130 | |||||||
| chr3:25741130 | TAAAAAAA others(3): Show |
T | 3 | a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0097 |
4 | HG01070.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.659-1341_659-1332d others(12): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741130 | |||||||
| chr3:25741352 | A | C | 1 | a0001c0001t0002g0012 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.659-1553T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741352 | |||||||
| chr3:25741701 | A | T | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.659-1902T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741701 | |||||||
| chr3:25741718 | C | T | 1 | a0001c0001t0001g0163 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.659-1919G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741718 | |||||||
| chr3:25741750 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.659-1951C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741750 | |||||||
| chr3:25741759 | G | C | 1 | a0001c0001t0001g0213 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.659-1960C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741759 | |||||||
| chr3:25741858 | G | A | 3 | a0001c0001t0001g0099 a0001c0001t0001g0231 a0001c0001t0001g0233 |
3 | HG00639.hp2 HG02258.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.659-2059C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741858 | |||||||
| chr3:25741932 | C | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.659-2133G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741932 | |||||||
| chr3:25741966 | A | G | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.659-2167T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25741966 | |||||||
| chr3:25742049 | G | T | 23 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show |
23 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.659-2250C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742049 | |||||||
| chr3:25742220 | C | T | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.659-2421G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742220 | |||||||
| chr3:25742335 | T | C | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.659-2536A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742335 | |||||||
| chr3:25742530 | C | T | 1 | a0001c0001t0001g0124 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.659-2731G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742530 | |||||||
| chr3:25742613 | A | G | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.659-2814T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742613 | |||||||
| chr3:25742645 | T | G | 1 | a0001c0001t0001g0197 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.659-2846A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742645 | |||||||
| chr3:25742862 | T | G | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.659-3063A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742862 | |||||||
| chr3:25742884 | C | CA | 21 | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 others(18): Show |
21 | HG00733.hp2 HG01243.hp1 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.659-3086dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742884 | |||||||
| chr3:25742884 | C | CAA | 8 | a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0212 others(5): Show |
8 | HG02258.hp2 HG02559.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.659-3087_659-3086d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742884 | |||||||
| chr3:25742884 | CA | C | 101 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(98): Show |
106 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(103): Show |
intron_variant | MODIFIER | c.659-3086delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742884 | |||||||
| chr3:25742884 | CAA | C | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0229 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.659-3087_659-3086d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25742884 | |||||||
| chr3:25743097 | C | G | 1 | a0001c0001t0001g0174 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.659-3298G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743097 | |||||||
| chr3:25743201 | C | T | 1 | a0001c0001t0001g0230 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.659-3402G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743201 | |||||||
| chr3:25743353 | T | TTGTTCAC others(31): Show |
1 | a0001c0001t0001g0092 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.659-3592_659-3555d others(40): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743353 | |||||||
| chr3:25743371 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.659-3572G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743371 | |||||||
| chr3:25743390 | T | C | 9 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.659-3591A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743390 | |||||||
| chr3:25743571 | A | AGT | 124 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(121): Show |
129 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.659-3774_659-3773d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743571 | |||||||
| chr3:25743571 | A | AGTGT | 9 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0171 others(6): Show |
10 | HG00639.hp2 HG01074.hp1 HG01358.hp2 others(7): Show |
intron_variant | MODIFIER | c.659-3776_659-3773d others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743571 | |||||||
| chr3:25743591 | T | C | 177 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(174): Show |
183 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(180): Show |
intron_variant | MODIFIER | c.659-3792A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743591 | |||||||
| chr3:25743834 | T | C | 1 | a0001c0001t0001g0055 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.659-4035A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743834 | |||||||
| chr3:25743842 | C | T | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.659-4043G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743842 | |||||||
| chr3:25743937 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.659-4138C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25743937 | |||||||
| chr3:25744021 | T | G | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.659-4222A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744021 | |||||||
| chr3:25744104 | A | C | 1 | a0001c0001t0001g0171 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.659-4305T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744104 | |||||||
| chr3:25744343 | C | A | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.659-4544G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744343 | |||||||
| chr3:25744584 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.659-4785T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744584 | |||||||
| chr3:25744825 | G | A | 1 | a0001c0001t0001g0025 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.659-5026C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744825 | |||||||
| chr3:25744842 | T | C | 1 | a0001c0001t0001g0221 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.659-5043A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744842 | |||||||
| chr3:25744890 | G | A | 1 | a0001c0001t0001g0067 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.659-5091C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25744890 | |||||||
| chr3:25745037 | T | C | 1 | a0001c0001t0001g0204 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.659-5238A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745037 | |||||||
| chr3:25745125 | C | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.659-5326G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745125 | |||||||
| chr3:25745322 | A | G | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.659-5523T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745322 | |||||||
| chr3:25745393 | G | A | 138 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
144 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.659-5594C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745393 | |||||||
| chr3:25745410 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.659-5611A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745410 | |||||||
| chr3:25745435 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.659-5636G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745435 | |||||||
| chr3:25745853 | A | G | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.658+5245T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25745853 | |||||||
| chr3:25746350 | CTG | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(3): Show |
7 | HG00639.hp2 HG02258.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.658+4746_658+4747d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25746350 | |||||||
| chr3:25746737 | T | C | 1 | a0001c0001t0001g0170 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.658+4361A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25746737 | |||||||
| chr3:25746922 | C | T | 24 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(21): Show |
24 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.658+4176G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25746922 | |||||||
| chr3:25746944 | T | C | 181 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(178): Show |
187 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(184): Show |
intron_variant | MODIFIER | c.658+4154A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25746944 | |||||||
| chr3:25747122 | G | A | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.658+3976C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25747122 | |||||||
| chr3:25747168 | G | C | 2 | a0001c0001t0001g0133 a0001c0001t0001g0134 |
2 | NA18982.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.658+3930C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25747168 | |||||||
| chr3:25747196 | C | T | 9 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 others(6): Show |
9 | NA18973.hp1 NA18983.hp1 NA18994.hp2 others(6): Show |
intron_variant | MODIFIER | c.658+3902G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25747196 | |||||||
| chr3:25747591 | T | G | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.658+3507A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25747591 | |||||||
| chr3:25747858 | G | C | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.658+3240C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25747858 | |||||||
| chr3:25748100 | T | C | 1 | a0001c0001t0001g0041 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.658+2998A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25748100 | |||||||
| chr3:25748109 | C | A | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.658+2989G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25748109 | |||||||
| chr3:25748289 | A | T | 4 | a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show |
4 | HG01074.hp2 HG01361.hp2 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.658+2809T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25748289 | |||||||
| chr3:25748672 | T | C | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.658+2426A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25748672 | |||||||
| chr3:25748866 | C | A | 1 | a0001c0001t0001g0223 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.658+2232G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25748866 | |||||||
| chr3:25749099 | C | T | 138 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
144 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.658+1999G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749099 | |||||||
| chr3:25749300 | G | A | 1 | a0001c0001t0001g0204 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.658+1798C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749300 | |||||||
| chr3:25749320 | C | T | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.658+1778G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749320 | |||||||
| chr3:25749513 | A | G | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.658+1585T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749513 | |||||||
| chr3:25749565 | C | T | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG01109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.658+1533G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749565 | |||||||
| chr3:25749594 | C | T | 1 | a0001c0001t0001g0005 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.658+1504G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749594 | |||||||
| chr3:25749712 | A | C | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.658+1386T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749712 | |||||||
| chr3:25749831 | G | T | 1 | a0001c0001t0001g0152 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.658+1267C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749831 | |||||||
| chr3:25749840 | C | A | 11 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0040 others(8): Show |
12 | HG02486.hp2 HG02615.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.658+1258G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749840 | |||||||
| chr3:25749882 | G | A | 3 | a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0223 |
3 | HG02280.hp2 HG03209.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.658+1216C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749882 | |||||||
| chr3:25749907 | T | C | 1 | a0001c0001t0001g0046 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.658+1191A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749907 | |||||||
| chr3:25749932 | T | C | 12 | a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0176 others(9): Show |
12 | HG00438.hp2 HG00544.hp2 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.658+1166A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749932 | |||||||
| chr3:25749944 | CA | C | 12 | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0063 others(9): Show |
12 | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.658+1153delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749944 | |||||||
| chr3:25749944 | CAA | C | 169 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(166): Show |
175 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(172): Show |
intron_variant | MODIFIER | c.658+1152_658+1153d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25749944 | |||||||
| chr3:25750041 | T | C | 1 | a0001c0001t0001g0226 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.658+1057A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750041 | |||||||
| chr3:25750064 | T | C | 1 | a0001c0001t0001g0174 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.658+1034A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750064 | |||||||
| chr3:25750066 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.658+1032C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750066 | |||||||
| chr3:25750170 | C | T | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG01109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.658+928G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750170 | |||||||
| chr3:25750220 | T | C | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.658+878A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750220 | |||||||
| chr3:25750277 | C | G | 1 | a0001c0001t0001g0028 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.658+821G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750277 | |||||||
| chr3:25750287 | C | T | 9 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 others(6): Show |
9 | NA18973.hp1 NA18983.hp1 NA18994.hp2 others(6): Show |
intron_variant | MODIFIER | c.658+811G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750287 | |||||||
| chr3:25750439 | G | A | 1 | a0001c0001t0001g0110 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.658+659C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750439 | |||||||
| chr3:25750621 | T | C | 2 | a0001c0001t0001g0240 a0001c0001t0001g0249 |
2 | HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.658+477A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750621 | |||||||
| chr3:25750668 | A | G | 4 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show |
4 | HG01071.hp2 HG01433.hp2 HG03669.hp1 others(1): Show |
intron_variant | MODIFIER | c.658+430T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750668 | |||||||
| chr3:25750761 | A | G | 1 | a0001c0002t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.658+337T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750761 | |||||||
| chr3:25750817 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.658+281T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750817 | |||||||
| chr3:25750864 | C | T | 1 | a0001c0001t0001g0068 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.658+234G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 4/11 | chr3 | 25750864 | |||||||
| chr3:25751495 | T | C | 2 | a0001c0001t0001g0210 a0001c0001t0001g0223 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.493-232A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25751495 | |||||||
| chr3:25751590 | C | A | 1 | a0001c0001t0001g0178 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.493-327G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25751590 | |||||||
| chr3:25751785 | T | G | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.493-522A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25751785 | |||||||
| chr3:25751968 | C | G | 1 | a0001c0001t0002g0015 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.493-705G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25751968 | |||||||
| chr3:25751982 | G | C | 1 | a0001c0001t0002g0015 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.493-719C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25751982 | |||||||
| chr3:25752233 | A | T | 19 | a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0138 others(16): Show |
19 | HG00621.hp2 HG00642.hp2 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.493-970T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25752233 | |||||||
| chr3:25752422 | A | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(109): Show |
117 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.493-1159T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25752422 | |||||||
| chr3:25752556 | C | G | 1 | a0001c0001t0001g0048 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.493-1293G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25752556 | |||||||
| chr3:25752559 | G | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.493-1296C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25752559 | |||||||
| chr3:25752635 | C | T | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.493-1372G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25752635 | |||||||
| chr3:25752643 | TA | T | 10 | a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0078 others(7): Show |
10 | HG01074.hp1 HG01515.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.493-1381delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25752643 | |||||||
| chr3:25753020 | A | G | 134 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(131): Show |
140 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.493-1757T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753020 | |||||||
| chr3:25753197 | C | T | 3 | a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0223 |
3 | HG02280.hp2 HG03209.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.493-1934G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753197 | |||||||
| chr3:25753213 | T | A | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.493-1950A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753213 | |||||||
| chr3:25753281 | G | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show |
99 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(96): Show |
intron_variant | MODIFIER | c.493-2018C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753281 | |||||||
| chr3:25753346 | T | C | 1 | a0001c0001t0001g0097 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.493-2083A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753346 | |||||||
| chr3:25753417 | CA | C | 97 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(94): Show |
101 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(98): Show |
intron_variant | MODIFIER | c.493-2155delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753417 | |||||||
| chr3:25753541 | A | G | 5 | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show |
5 | HG02055.hp1 HG02818.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.493-2278T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753541 | |||||||
| chr3:25753773 | T | C | 1 | a0001c0001t0001g0173 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.493-2510A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753773 | |||||||
| chr3:25753823 | T | C | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.493-2560A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25753823 | |||||||
| chr3:25754145 | T | TA | 6 | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0063 others(3): Show |
6 | HG02055.hp1 HG02818.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.493-2883dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754145 | |||||||
| chr3:25754180 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.493-2917G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754180 | |||||||
| chr3:25754202 | T | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(3): Show |
7 | HG00639.hp2 HG02258.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.493-2939A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754202 | |||||||
| chr3:25754356 | G | A | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.493-3093C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754356 | |||||||
| chr3:25754365 | G | C | 4 | a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show |
4 | HG01167.hp1 HG01169.hp2 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.493-3102C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754365 | |||||||
| chr3:25754398 | T | C | 134 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(131): Show |
140 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.493-3135A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754398 | |||||||
| chr3:25754647 | A | G | 1 | a0001c0001t0001g0167 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.493-3384T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754647 | |||||||
| chr3:25754664 | G | GA | 5 | a0001c0001t0001g0087 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | HG02109.hp1 HG02559.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.493-3402dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754664 | |||||||
| chr3:25754664 | GA | G | 115 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(112): Show |
120 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.493-3402delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754664 | |||||||
| chr3:25754665 | A | G | 1 | a0001c0001t0001g0234 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.493-3402T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754665 | |||||||
| chr3:25754714 | A | G | 9 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 others(6): Show |
9 | NA18973.hp1 NA18983.hp1 NA18994.hp2 others(6): Show |
intron_variant | MODIFIER | c.493-3451T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754714 | |||||||
| chr3:25754774 | A | C | 1 | a0001c0001t0001g0135 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.493-3511T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754774 | |||||||
| chr3:25754784 | C | CAT | 138 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(135): Show |
144 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.493-3522_493-3521i others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754784 | |||||||
| chr3:25754787 | G | GT | 13 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(10): Show |
13 | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.493-3525_493-3524i others(3): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754787 | |||||||
| chr3:25754788 | C | CT | 136 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(133): Show |
141 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(138): Show |
intron_variant | MODIFIER | c.493-3526dupA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754788 | |||||||
| chr3:25754788 | C | CTT | 28 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0099 others(25): Show |
29 | HG00621.hp1 HG00621.hp2 HG00639.hp2 others(26): Show |
intron_variant | MODIFIER | c.493-3527_493-3526d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754788 | |||||||
| chr3:25754788 | C | T | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.493-3525G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25754788 | |||||||
| chr3:25755025 | A | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.493-3762T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755025 | |||||||
| chr3:25755275 | T | C | 1 | a0001c0001t0001g0234 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.493-4012A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755275 | |||||||
| chr3:25755368 | T | C | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.493-4105A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755368 | |||||||
| chr3:25755404 | G | C | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.493-4141C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755404 | |||||||
| chr3:25755413 | A | G | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.493-4150T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755413 | |||||||
| chr3:25755418 | T | C | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.493-4155A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755418 | |||||||
| chr3:25755568 | C | T | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.493-4305G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25755568 | |||||||
| chr3:25756476 | C | A | 1 | a0001c0001t0001g0025 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.493-5213G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25756476 | |||||||
| chr3:25756542 | T | A | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.493-5279A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25756542 | |||||||
| chr3:25757078 | G | T | 1 | a0001c0001t0001g0221 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.493-5815C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25757078 | |||||||
| chr3:25757471 | A | G | 2 | a0001c0001t0001g0210 a0001c0001t0001g0223 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.493-6208T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25757471 | |||||||
| chr3:25757550 | A | G | 1 | a0001c0001t0001g0139 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.493-6287T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25757550 | |||||||
| chr3:25757619 | T | C | 5 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 others(2): Show |
5 | HG02258.hp2 HG02622.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.493-6356A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25757619 | |||||||
| chr3:25757930 | A | T | 2 | a0001c0001t0001g0073 a0001c0001t0001g0074 |
2 | HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.492+6136T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25757930 | |||||||
| chr3:25758215 | T | C | 1 | a0001c0001t0001g0220 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.492+5851A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758215 | |||||||
| chr3:25758249 | G | T | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.492+5817C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758249 | |||||||
| chr3:25758570 | C | A | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.492+5496G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758570 | |||||||
| chr3:25758585 | A | G | 1 | a0001c0001t0001g0138 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.492+5481T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758585 | |||||||
| chr3:25758669 | G | A | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.492+5397C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758669 | |||||||
| chr3:25758676 | T | C | 1 | a0001c0001t0001g0243 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.492+5390A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758676 | |||||||
| chr3:25758697 | C | T | 1 | a0001c0001t0001g0221 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.492+5369G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25758697 | |||||||
| chr3:25759863 | G | A | 1 | a0001c0001t0001g0103 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.492+4203C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759863 | |||||||
| chr3:25759911 | TAA | T | 6 | a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0242 others(3): Show |
6 | HG01167.hp1 HG01169.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.492+4153_492+4154d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759911 | |||||||
| chr3:25759917 | A | AAC | 12 | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0052 others(9): Show |
12 | HG01255.hp1 HG01261.hp2 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.492+4147_492+4148d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759917 | |||||||
| chr3:25759917 | A | C | 6 | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 others(3): Show |
7 | HG01070.hp1 HG01257.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.492+4149T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759917 | |||||||
| chr3:25759917 | AAC | A | 142 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(139): Show |
147 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.492+4147_492+4148d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759917 | |||||||
| chr3:25759917 | AACAC | A | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.492+4145_492+4148d others(6): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759917 | |||||||
| chr3:25759919 | C | A | 23 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0073 others(20): Show |
24 | HG00639.hp2 HG01109.hp1 HG01934.hp2 others(21): Show |
intron_variant | MODIFIER | c.492+4147G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759919 | |||||||
| chr3:25759921 | C | A | 132 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(129): Show |
138 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(135): Show |
intron_variant | MODIFIER | c.492+4145G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759921 | |||||||
| chr3:25759923 | C | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.492+4143G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759923 | |||||||
| chr3:25759925 | C | A | 4 | a0001c0001t0001g0165 a0001c0001t0001g0225 a0001c0001t0001g0226 others(1): Show |
4 | HG03471.hp2 HG06807.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.492+4141G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25759925 | |||||||
| chr3:25760586 | C | T | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.492+3480G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760586 | |||||||
| chr3:25760733 | G | A | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.492+3333C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760733 | |||||||
| chr3:25760821 | T | C | 9 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.492+3245A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760821 | |||||||
| chr3:25760860 | C | CAAAAAAA others(5): Show |
2 | a0001c0001t0001g0033 a0001c0001t0001g0084 |
2 | HG03491.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.492+3194_492+3205d others(14): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | C | CAAAAAAA others(22): Show |
1 | a0001c0002t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.492+3177_492+3205d others(31): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(4): Show |
C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0089 |
2 | HG00408.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.492+3195_492+3205d others(13): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0055 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.492+3193_492+3205d others(15): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(7): Show |
C | 2 | a0001c0001t0001g0054 a0001c0001t0001g0088 |
2 | HG01255.hp1 HG02027.hp1 |
intron_variant | MODIFIER | c.492+3192_492+3205d others(16): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(8): Show |
C | 4 | a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show |
4 | HG01358.hp1 HG01928.hp1 HG02523.hp2 others(1): Show |
intron_variant | MODIFIER | c.492+3191_492+3205d others(17): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(9): Show |
C | 5 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0075 others(2): Show |
5 | HG01261.hp2 HG01943.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.492+3190_492+3205d others(18): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(10): Show |
C | 3 | a0001c0001t0001g0081 a0001c0002t0001g0050 a0001c0002t0001g0051 |
3 | HG02055.hp2 HG02717.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.492+3189_492+3205d others(19): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(12): Show |
C | 2 | a0001c0001t0001g0003 a0001c0001t0001g0097 |
3 | HG01257.hp1 HG01258.hp1 HG01361.hp1 |
intron_variant | MODIFIER | c.492+3187_492+3205d others(21): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(13): Show |
C | 2 | a0001c0001t0001g0096 a0001c0001t0005g0011 |
2 | HG01070.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.492+3186_492+3205d others(22): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(15): Show |
C | 1 | a0001c0001t0001g0223 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.492+3184_492+3205d others(24): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(16): Show |
C | 1 | a0001c0001t0001g0221 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.492+3183_492+3205d others(25): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(17): Show |
C | 4 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 others(1): Show |
4 | HG00735.hp2 HG01243.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.492+3182_492+3205d others(26): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(18): Show |
C | 5 | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0086 others(2): Show |
5 | HG00741.hp1 HG01891.hp1 HG04228.hp2 others(2): Show |
intron_variant | MODIFIER | c.492+3181_492+3205d others(27): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(19): Show |
C | 4 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0085 others(1): Show |
4 | HG03669.hp2 NA18945.hp1 NA18949.hp1 others(1): Show |
intron_variant | MODIFIER | c.492+3180_492+3205d others(28): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(20): Show |
C | 4 | a0001c0001t0001g0098 a0001c0001t0001g0215 a0001c0001t0001g0217 others(1): Show |
4 | HG02145.hp1 HG02145.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.492+3179_492+3205d others(29): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(21): Show |
C | 4 | a0001c0001t0001g0079 a0001c0001t0001g0213 a0001c0001t0001g0218 others(1): Show |
4 | HG01934.hp2 HG02615.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.492+3178_492+3205d others(30): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(22): Show |
C | 6 | a0001c0001t0001g0068 a0001c0001t0001g0211 a0001c0001t0001g0212 others(3): Show |
6 | HG02258.hp2 HG02622.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.492+3177_492+3205d others(31): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(23): Show |
C | 10 | a0001c0001t0001g0067 a0001c0001t0001g0236 a0001c0001t0001g0237 others(7): Show |
10 | HG00735.hp1 HG01243.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.492+3176_492+3205d others(32): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(24): Show |
C | 13 | a0001c0001t0001g0021 a0001c0001t0001g0239 a0001c0001t0001g0240 others(10): Show |
13 | HG00733.hp2 HG01167.hp1 HG01169.hp2 others(10): Show |
intron_variant | MODIFIER | c.492+3175_492+3205d others(33): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(25): Show |
C | 3 | a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0094 |
3 | HG03098.hp2 HG03139.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.492+3174_492+3205d others(34): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(26): Show |
C | 2 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
2 | NA18973.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.492+3173_492+3205d others(35): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(27): Show |
C | 9 | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(6): Show |
9 | HG02451.hp1 NA18983.hp1 NA18994.hp2 others(6): Show |
intron_variant | MODIFIER | c.492+3172_492+3205d others(36): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(29): Show |
C | 3 | a0001c0001t0001g0228 a0001c0001t0004g0255 a0001c0001t0004g0256 |
3 | HG02109.hp1 HG02559.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.492+3170_492+3205d others(38): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(31): Show |
C | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.492+3168_492+3205d others(40): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(32): Show |
C | 3 | a0001c0001t0001g0129 a0001c0001t0001g0189 a0001c0001t0001g0191 |
3 | HG04199.hp1 NA18940.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.492+3167_492+3205d others(41): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(33): Show |
C | 128 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(125): Show |
134 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(131): Show |
intron_variant | MODIFIER | c.492+3166_492+3205d others(42): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760860 | CAAAAAAA others(34): Show |
C | 3 | a0001c0001t0001g0198 a0001c0001t0004g0090 a0001c0001t0007g0166 |
3 | HG01169.hp1 HG03688.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.492+3165_492+3205d others(43): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760860 | |||||||
| chr3:25760928 | C | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.492+3138G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25760928 | |||||||
| chr3:25761103 | T | C | 1 | a0001c0001t0001g0164 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.492+2963A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761103 | |||||||
| chr3:25761156 | A | G | 1 | a0001c0001t0001g0197 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.492+2910T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761156 | |||||||
| chr3:25761189 | T | A | 8 | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG02055.hp1 HG02145.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.492+2877A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761189 | |||||||
| chr3:25761262 | C | G | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.492+2804G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761262 | |||||||
| chr3:25761270 | C | T | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.492+2796G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761270 | |||||||
| chr3:25761373 | T | C | 1 | a0001c0001t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.492+2693A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761373 | |||||||
| chr3:25761471 | A | C | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG02280.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.492+2595T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761471 | |||||||
| chr3:25761529 | C | T | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.492+2537G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761529 | |||||||
| chr3:25761585 | C | T | 1 | a0001c0001t0004g0090 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.492+2481G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761585 | |||||||
| chr3:25761843 | C | T | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.492+2223G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761843 | |||||||
| chr3:25761895 | T | A | 1 | a0001c0001t0001g0253 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.492+2171A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25761895 | |||||||
| chr3:25762087 | C | T | 1 | a0001c0001t0001g0223 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.492+1979G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762087 | |||||||
| chr3:25762240 | G | A | 1 | a0001c0001t0001g0234 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.492+1826C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762240 | |||||||
| chr3:25762306 | A | G | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.492+1760T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762306 | |||||||
| chr3:25762637 | T | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.492+1429A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762637 | |||||||
| chr3:25762687 | G | T | 177 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(174): Show |
183 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(180): Show |
intron_variant | MODIFIER | c.492+1379C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762687 | |||||||
| chr3:25762877 | C | T | 1 | a0001c0001t0001g0226 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.492+1189G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762877 | |||||||
| chr3:25762923 | T | C | 9 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.492+1143A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25762923 | |||||||
| chr3:25763170 | A | T | 1 | a0001c0001t0001g0171 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.492+896T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763170 | |||||||
| chr3:25763397 | A | G | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.492+669T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763397 | |||||||
| chr3:25763417 | T | C | 9 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(6): Show |
9 | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.492+649A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763417 | |||||||
| chr3:25763539 | T | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.492+527A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763539 | |||||||
| chr3:25763609 | T | G | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.492+457A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763609 | |||||||
| chr3:25763700 | G | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.492+366C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763700 | |||||||
| chr3:25763779 | C | T | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.492+287G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763779 | |||||||
| chr3:25763809 | T | C | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.492+257A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763809 | |||||||
| chr3:25763899 | C | T | 253 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(250): Show |
261 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(258): Show |
intron_variant | MODIFIER | c.492+167G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25763899 | |||||||
| chr3:25764062 | T | A | 1 | a0001c0001t0001g0165 | 1 | NA19005.hp1 | splice_region_variant&intron_variant | LOW | c.492+4A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | 25764062 | |||||||
| chr3:25764374 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.247-63G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764374 | |||||||
| chr3:25764388 | T | C | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.247-77A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764388 | |||||||
| chr3:25764472 | T | C | 1 | a0001c0001t0001g0066 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.247-161A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764472 | |||||||
| chr3:25764783 | G | C | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.247-472C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764783 | |||||||
| chr3:25764958 | T | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(109): Show |
117 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.247-647A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764958 | |||||||
| chr3:25764998 | G | A | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.247-687C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764998 | |||||||
| chr3:25764999 | C | T | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.247-688G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25764999 | |||||||
| chr3:25765174 | T | C | 1 | a0001c0001t0007g0166 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.247-863A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765174 | |||||||
| chr3:25765324 | G | A | 1 | a0001c0001t0001g0234 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.247-1013C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765324 | |||||||
| chr3:25765334 | C | T | 1 | a0001c0001t0001g0217 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.247-1023G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765334 | |||||||
| chr3:25765350 | C | T | 1 | a0001c0001t0001g0137 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.247-1039G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765350 | |||||||
| chr3:25765453 | C | CA | 17 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(14): Show |
17 | HG00408.hp2 HG01346.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.247-1143dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765453 | |||||||
| chr3:25765509 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.247-1198T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765509 | |||||||
| chr3:25765593 | G | T | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.247-1282C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765593 | |||||||
| chr3:25765596 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.247-1285T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25765596 | |||||||
| chr3:25766100 | T | G | 2 | a0001c0001t0001g0073 a0001c0001t0001g0074 |
2 | HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.247-1789A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766100 | |||||||
| chr3:25766134 | C | T | 1 | a0001c0001t0004g0090 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.247-1823G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766134 | |||||||
| chr3:25766310 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.247-1999C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766310 | |||||||
| chr3:25766362 | C | T | 1 | a0001c0001t0001g0204 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.247-2051G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766362 | |||||||
| chr3:25766573 | A | G | 1 | a0001c0001t0001g0136 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.247-2262T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766573 | |||||||
| chr3:25766643 | A | C | 1 | a0001c0001t0001g0239 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.247-2332T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766643 | |||||||
| chr3:25766821 | A | G | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.247-2510T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766821 | |||||||
| chr3:25766856 | C | G | 4 | a0001c0001t0001g0035 a0001c0001t0001g0085 a0001c0001t0001g0086 others(1): Show |
4 | NA18945.hp1 NA18949.hp1 NA18974.hp2 others(1): Show |
intron_variant | MODIFIER | c.247-2545G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766856 | |||||||
| chr3:25766928 | C | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0119 |
2 | HG01081.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.247-2617G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766928 | |||||||
| chr3:25766976 | C | A | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.247-2665G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25766976 | |||||||
| chr3:25767094 | T | C | 147 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(144): Show |
153 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.247-2783A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767094 | |||||||
| chr3:25767224 | A | G | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.247-2913T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767224 | |||||||
| chr3:25767249 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.247-2938C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767249 | |||||||
| chr3:25767251 | T | C | 3 | a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0006g0172 |
3 | HG01074.hp1 HG01358.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.247-2940A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767251 | |||||||
| chr3:25767270 | C | T | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.247-2959G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767270 | |||||||
| chr3:25767538 | T | G | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.247-3227A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767538 | |||||||
| chr3:25767693 | T | C | 4 | a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0001t0001g0122 others(1): Show |
5 | HG00621.hp1 NA18963.hp2 NA19000.hp2 others(2): Show |
intron_variant | MODIFIER | c.247-3382A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767693 | |||||||
| chr3:25767745 | A | C | 5 | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(2): Show |
5 | HG00408.hp2 NA18982.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.247-3434T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767745 | |||||||
| chr3:25767750 | T | C | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.247-3439A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767750 | |||||||
| chr3:25767850 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | HG03942.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.247-3539G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767850 | |||||||
| chr3:25767872 | G | C | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.247-3561C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767872 | |||||||
| chr3:25767916 | CCTG | C | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.247-3608_247-3606d others(5): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767916 | |||||||
| chr3:25767933 | C | T | 2 | a0001c0001t0001g0131 a0001c0001t0001g0223 |
2 | HG03209.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.247-3622G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767933 | |||||||
| chr3:25767942 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.247-3631C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25767942 | |||||||
| chr3:25768078 | A | G | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.247-3767T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768078 | |||||||
| chr3:25768112 | C | CA | 16 | a0001c0001t0001g0023 a0001c0001t0001g0075 a0001c0001t0001g0076 others(13): Show |
16 | HG00735.hp1 HG01243.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.247-3802dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768112 | |||||||
| chr3:25768112 | CA | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(128): Show |
137 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(134): Show |
intron_variant | MODIFIER | c.247-3802delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768112 | |||||||
| chr3:25768128 | A | G | 1 | a0001c0001t0001g0110 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.247-3817T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768128 | |||||||
| chr3:25768254 | C | T | 1 | a0001c0001t0001g0130 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.247-3943G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768254 | |||||||
| chr3:25768294 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.247-3983G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768294 | |||||||
| chr3:25768422 | TA | T | 137 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(134): Show |
143 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.247-4112delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768422 | |||||||
| chr3:25768561 | C | CT | 12 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0035 others(9): Show |
12 | HG01515.hp1 HG03209.hp1 HG03492.hp1 others(9): Show |
intron_variant | MODIFIER | c.247-4251dupA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768561 | |||||||
| chr3:25768561 | CT | C | 20 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0100 others(17): Show |
20 | HG00621.hp1 HG00642.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.247-4251delA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768561 | |||||||
| chr3:25768561 | CTT | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
157 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.247-4252_247-4251d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768561 | |||||||
| chr3:25768599 | T | C | 15 | a0001c0001t0001g0004 a0001c0001t0001g0103 a0001c0001t0001g0112 others(12): Show |
16 | HG00621.hp1 HG01081.hp1 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.247-4288A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768599 | |||||||
| chr3:25768626 | C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.247-4315G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768626 | |||||||
| chr3:25768691 | G | A | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.247-4380C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768691 | |||||||
| chr3:25768694 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.247-4383G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768694 | |||||||
| chr3:25768707 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.247-4396C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768707 | |||||||
| chr3:25768977 | T | C | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG01109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.247-4666A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25768977 | |||||||
| chr3:25769156 | C | T | 1 | a0002c0006t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.247-4845G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25769156 | |||||||
| chr3:25769407 | C | T | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.247-5096G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25769407 | |||||||
| chr3:25769701 | C | T | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.247-5390G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25769701 | |||||||
| chr3:25769831 | G | A | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.247-5520C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25769831 | |||||||
| chr3:25769875 | C | G | 1 | a0001c0001t0001g0194 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.247-5564G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25769875 | |||||||
| chr3:25770037 | T | G | 1 | a0001c0001t0001g0233 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.247-5726A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770037 | |||||||
| chr3:25770052 | C | CTGAGTTA others(10): Show |
1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.247-5742_247-5741i others(19): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770052 | |||||||
| chr3:25770196 | G | A | 3 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 |
3 | HG02886.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.247-5885C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770196 | |||||||
| chr3:25770381 | T | C | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.247-6070A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770381 | |||||||
| chr3:25770597 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.247-6286C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770597 | |||||||
| chr3:25770661 | G | A | 1 | a0001c0001t0001g0178 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.247-6350C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770661 | |||||||
| chr3:25770746 | C | T | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.247-6435G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770746 | |||||||
| chr3:25770754 | G | A | 1 | a0001c0001t0001g0179 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.247-6443C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770754 | |||||||
| chr3:25770922 | A | G | 3 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 |
3 | HG02886.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.247-6611T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770922 | |||||||
| chr3:25770963 | T | C | 152 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(149): Show |
158 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(155): Show |
intron_variant | MODIFIER | c.247-6652A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25770963 | |||||||
| chr3:25771037 | A | C | 1 | a0001c0001t0001g0094 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.247-6726T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771037 | |||||||
| chr3:25771098 | T | C | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01934.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.247-6787A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771098 | |||||||
| chr3:25771105 | T | A | 1 | a0001c0001t0001g0180 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.247-6794A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771105 | |||||||
| chr3:25771115 | G | A | 1 | a0001c0001t0001g0120 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.247-6804C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771115 | |||||||
| chr3:25771152 | T | C | 1 | a0001c0001t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.247-6841A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771152 | |||||||
| chr3:25771190 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.247-6879T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771190 | |||||||
| chr3:25771198 | A | G | 2 | a0001c0001t0001g0095 a0001c0001t0001g0098 |
2 | HG02145.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.247-6887T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771198 | |||||||
| chr3:25771517 | G | A | 1 | a0001c0001t0001g0182 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.246+7057C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771517 | |||||||
| chr3:25771745 | T | C | 1 | a0001c0001t0001g0110 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.246+6829A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771745 | |||||||
| chr3:25771795 | A | G | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.246+6779T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771795 | |||||||
| chr3:25771925 | T | A | 6 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(3): Show |
7 | HG00639.hp2 HG02258.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.246+6649A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771925 | |||||||
| chr3:25771966 | T | C | 1 | a0001c0001t0001g0221 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.246+6608A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771966 | |||||||
| chr3:25771976 | A | G | 112 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(109): Show |
117 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.246+6598T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25771976 | |||||||
| chr3:25772073 | G | A | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.246+6501C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772073 | |||||||
| chr3:25772112 | T | C | 6 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(3): Show |
6 | HG01192.hp1 HG01928.hp2 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.246+6462A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772112 | |||||||
| chr3:25772215 | C | T | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.246+6359G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772215 | |||||||
| chr3:25772256 | C | T | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.246+6318G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772256 | |||||||
| chr3:25772336 | G | A | 2 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | HG02148.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.246+6238C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772336 | |||||||
| chr3:25772367 | C | G | 1 | a0001c0001t0001g0005 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.246+6207G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772367 | |||||||
| chr3:25772437 | T | A | 1 | a0001c0001t0001g0188 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.246+6137A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772437 | |||||||
| chr3:25772557 | G | C | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.246+6017C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772557 | |||||||
| chr3:25772693 | GT | G | 116 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(113): Show |
121 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.246+5880delA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772693 | |||||||
| chr3:25772772 | G | A | 6 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(3): Show |
7 | HG00639.hp2 HG02258.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.246+5802C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772772 | |||||||
| chr3:25772817 | T | G | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.246+5757A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772817 | |||||||
| chr3:25772875 | C | T | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.246+5699G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772875 | |||||||
| chr3:25772904 | T | C | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG02280.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.246+5670A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772904 | |||||||
| chr3:25772952 | G | A | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.246+5622C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25772952 | |||||||
| chr3:25773213 | T | C | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.246+5361A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773213 | |||||||
| chr3:25773349 | G | C | 3 | a0001c0001t0001g0022 a0001c0001t0004g0255 a0001c0001t0004g0256 |
3 | HG02109.hp1 HG02451.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.246+5225C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773349 | |||||||
| chr3:25773362 | C | T | 1 | a0001c0001t0001g0127 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.246+5212G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773362 | |||||||
| chr3:25773465 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.246+5109G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773465 | |||||||
| chr3:25773670 | T | C | 3 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 |
3 | HG03491.hp1 HG03492.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.246+4904A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773670 | |||||||
| chr3:25773800 | C | A | 1 | a0001c0001t0001g0188 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.246+4774G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773800 | |||||||
| chr3:25773801 | A | T | 1 | a0001c0001t0001g0188 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.246+4773T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773801 | |||||||
| chr3:25773802 | T | G | 1 | a0001c0001t0001g0188 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.246+4772A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773802 | |||||||
| chr3:25773934 | T | C | 1 | a0001c0001t0001g0189 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.246+4640A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25773934 | |||||||
| chr3:25774054 | T | C | 1 | a0001c0001t0001g0229 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.246+4520A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774054 | |||||||
| chr3:25774122 | T | C | 1 | a0001c0001t0001g0105 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.246+4452A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774122 | |||||||
| chr3:25774273 | G | A | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.246+4301C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774273 | |||||||
| chr3:25774289 | T | A | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.246+4285A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774289 | |||||||
| chr3:25774584 | T | C | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.246+3990A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774584 | |||||||
| chr3:25774763 | G | C | 3 | a0001c0001t0001g0109 a0001c0001t0001g0190 a0001c0001t0001g0191 |
3 | HG00544.hp1 NA18943.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.246+3811C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774763 | |||||||
| chr3:25774830 | A | G | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.246+3744T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774830 | |||||||
| chr3:25774969 | T | C | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.246+3605A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25774969 | |||||||
| chr3:25775091 | G | A | 23 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show |
23 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.246+3483C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775091 | |||||||
| chr3:25775135 | T | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.246+3439A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775135 | |||||||
| chr3:25775407 | A | T | 1 | a0001c0001t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.246+3167T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775407 | |||||||
| chr3:25775644 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.246+2930T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775644 | |||||||
| chr3:25775737 | A | T | 1 | a0001c0001t0001g0123 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.246+2837T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775737 | |||||||
| chr3:25775889 | T | C | 1 | a0001c0001t0001g0227 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.246+2685A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775889 | |||||||
| chr3:25775930 | T | G | 3 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 |
3 | HG02145.hp1 HG02572.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.246+2644A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25775930 | |||||||
| chr3:25776121 | G | A | 133 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(130): Show |
139 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.246+2453C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776121 | |||||||
| chr3:25776173 | T | C | 2 | a0001c0001t0001g0104 a0001c0001t0001g0207 |
2 | NA18945.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.246+2401A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776173 | |||||||
| chr3:25776216 | G | A | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG02280.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.246+2358C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776216 | |||||||
| chr3:25776513 | T | C | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.246+2061A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776513 | |||||||
| chr3:25776638 | C | G | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.246+1936G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776638 | |||||||
| chr3:25776695 | T | TTA | 1 | a0001c0001t0001g0006 | 2 | HG01255.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.246+1877_246+1878d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776695 | |||||||
| chr3:25776699 | T | C | 1 | a0001c0001t0001g0203 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.246+1875A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776699 | |||||||
| chr3:25776723 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.246+1851C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776723 | |||||||
| chr3:25776876 | C | T | 117 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(114): Show |
122 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.246+1698G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776876 | |||||||
| chr3:25776929 | C | CA | 4 | a0001c0001t0001g0022 a0001c0001t0001g0225 a0001c0001t0001g0226 others(1): Show |
4 | HG02451.hp1 HG03471.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.246+1644dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776929 | |||||||
| chr3:25776954 | T | C | 46 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0210 others(43): Show |
46 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(43): Show |
intron_variant | MODIFIER | c.246+1620A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776954 | |||||||
| chr3:25776982 | G | A | 1 | a0001c0001t0001g0227 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.246+1592C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25776982 | |||||||
| chr3:25777162 | A | G | 38 | a0001c0001t0001g0021 a0001c0001t0001g0210 a0001c0001t0001g0211 others(35): Show |
38 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(35): Show |
intron_variant | MODIFIER | c.246+1412T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777162 | |||||||
| chr3:25777188 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.246+1386C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777188 | |||||||
| chr3:25777255 | C | T | 2 | a0001c0001t0001g0125 a0001c0001t0001g0126 |
2 | HG00438.hp2 NA18981.hp1 |
intron_variant | MODIFIER | c.246+1319G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777255 | |||||||
| chr3:25777256 | G | A | 1 | a0001c0001t0001g0031 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.246+1318C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777256 | |||||||
| chr3:25777277 | C | A | 2 | a0001c0001t0001g0085 a0001c0001t0001g0086 |
2 | NA18974.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.246+1297G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777277 | |||||||
| chr3:25777284 | A | T | 40 | a0001c0001t0001g0021 a0001c0001t0001g0210 a0001c0001t0001g0211 others(37): Show |
40 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(37): Show |
intron_variant | MODIFIER | c.246+1290T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777284 | |||||||
| chr3:25777317 | T | C | 39 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0210 others(36): Show |
39 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(36): Show |
intron_variant | MODIFIER | c.246+1257A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777317 | |||||||
| chr3:25777379 | G | C | 2 | a0001c0001t0001g0026 a0001c0001t0001g0027 |
2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.246+1195C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777379 | |||||||
| chr3:25777395 | C | CA | 10 | a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0088 others(7): Show |
10 | HG02027.hp1 HG02109.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.246+1178dupT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777395 | |||||||
| chr3:25777395 | C | CAA | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(96): Show |
104 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.246+1177_246+1178d others(4): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777395 | |||||||
| chr3:25777395 | C | CAAA | 13 | a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0122 others(10): Show |
13 | HG00639.hp1 HG01074.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.246+1176_246+1178d others(5): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777395 | |||||||
| chr3:25777395 | CA | C | 39 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 others(36): Show |
39 | HG00733.hp2 HG01167.hp1 HG01169.hp2 others(36): Show |
intron_variant | MODIFIER | c.246+1178delT | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777395 | |||||||
| chr3:25777395 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0234 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.246+1166_246+1178d others(15): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777395 | |||||||
| chr3:25777510 | T | C | 1 | a0001c0001t0001g0223 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.246+1064A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777510 | |||||||
| chr3:25777531 | G | C | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG01109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.246+1043C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777531 | |||||||
| chr3:25777558 | C | T | 24 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(21): Show |
24 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.246+1016G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777558 | |||||||
| chr3:25777784 | G | A | 41 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0210 others(38): Show |
41 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.246+790C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777784 | |||||||
| chr3:25777934 | C | T | 1 | a0001c0001t0001g0238 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.246+640G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25777934 | |||||||
| chr3:25778049 | G | A | 1 | a0001c0001t0001g0204 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.246+525C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25778049 | |||||||
| chr3:25778137 | G | A | 97 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(94): Show |
101 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(98): Show |
intron_variant | MODIFIER | c.246+437C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25778137 | |||||||
| chr3:25778191 | T | C | 23 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show |
23 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.246+383A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25778191 | |||||||
| chr3:25778381 | T | C | 39 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0210 others(36): Show |
39 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(36): Show |
intron_variant | MODIFIER | c.246+193A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25778381 | |||||||
| chr3:25778458 | C | T | 1 | a0001c0001t0001g0228 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.246+116G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 2/11 | chr3 | 25778458 | |||||||
| chr3:25778702 | A | G | 17 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0229 others(14): Show |
18 | HG00639.hp2 HG01109.hp1 HG01934.hp2 others(15): Show |
intron_variant | MODIFIER | c.132-14T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778702 | |||||||
| chr3:25778727 | C | A | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.132-39G>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778727 | |||||||
| chr3:25778822 | T | G | 1 | a0001c0001t0004g0090 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.132-134A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778822 | |||||||
| chr3:25778875 | AT | A | 41 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0110 others(38): Show |
41 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.132-188delA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778875 | |||||||
| chr3:25778885 | T | C | 24 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(21): Show |
24 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.132-197A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778885 | |||||||
| chr3:25778892 | TG | T | 170 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(167): Show |
176 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(173): Show |
intron_variant | MODIFIER | c.132-205delC | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778892 | |||||||
| chr3:25778912 | T | G | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.132-224A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778912 | |||||||
| chr3:25778925 | C | CT | 25 | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(22): Show |
25 | HG00733.hp2 HG01167.hp1 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.132-238dupA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778925 | |||||||
| chr3:25778925 | C | CTT | 5 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0236 others(2): Show |
5 | HG00735.hp1 HG00735.hp2 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.132-239_132-238dup others(2): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778925 | |||||||
| chr3:25778925 | CT | C | 17 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(14): Show |
17 | HG01891.hp1 HG01928.hp1 HG02027.hp2 others(14): Show |
intron_variant | MODIFIER | c.132-238delA | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778925 | |||||||
| chr3:25778925 | CTT | C | 110 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(107): Show |
115 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(112): Show |
intron_variant | MODIFIER | c.132-239_132-238del others(2): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778925 | |||||||
| chr3:25778925 | CTTTTTTT others(8): Show |
C | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0229 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.132-252_132-238del others(15): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778925 | |||||||
| chr3:25778925 | CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0002g0019 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.132-253_132-238del others(16): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778925 | |||||||
| chr3:25778962 | G | T | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG03471.hp2 HG06807.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.132-274C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25778962 | |||||||
| chr3:25779005 | G | A | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.132-317C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779005 | |||||||
| chr3:25779048 | A | T | 2 | a0001c0001t0001g0104 a0001c0001t0001g0207 |
2 | NA18945.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.132-360T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779048 | |||||||
| chr3:25779163 | T | G | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.132-475A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779163 | |||||||
| chr3:25779165 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.132-477C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779165 | |||||||
| chr3:25779600 | GC | G | 39 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0210 others(36): Show |
39 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(36): Show |
intron_variant | MODIFIER | c.132-913delG | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779600 | |||||||
| chr3:25779638 | A | T | 1 | a0001c0001t0001g0025 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.132-950T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779638 | |||||||
| chr3:25779838 | G | A | 1 | a0001c0001t0001g0094 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.132-1150C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779838 | |||||||
| chr3:25779876 | T | C | 1 | a0001c0001t0001g0095 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.132-1188A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779876 | |||||||
| chr3:25779944 | T | G | 3 | a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0097 |
4 | HG01070.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.132-1256A>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779944 | |||||||
| chr3:25779978 | A | G | 1 | a0001c0001t0001g0103 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.132-1290T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25779978 | |||||||
| chr3:25780016 | G | T | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.132-1328C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780016 | |||||||
| chr3:25780158 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.132-1470C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780158 | |||||||
| chr3:25780262 | C | T | 112 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(109): Show |
117 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.132-1574G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780262 | |||||||
| chr3:25780498 | T | C | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.132-1810A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780498 | |||||||
| chr3:25780659 | G | C | 1 | a0001c0001t0001g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.132-1971C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780659 | |||||||
| chr3:25780776 | G | A | 1 | a0001c0001t0001g0206 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.132-2088C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780776 | |||||||
| chr3:25780967 | T | C | 1 | a0001c0001t0001g0098 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.132-2279A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780967 | |||||||
| chr3:25780977 | T | C | 1 | a0001c0001t0001g0207 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.131+2283A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25780977 | |||||||
| chr3:25781009 | C | T | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.131+2251G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781009 | |||||||
| chr3:25781106 | C | T | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.131+2154G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781106 | |||||||
| chr3:25781134 | A | G | 14 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(11): Show |
14 | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.131+2126T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781134 | |||||||
| chr3:25781285 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.131+1975G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781285 | |||||||
| chr3:25781289 | A | C | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.131+1971T>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781289 | |||||||
| chr3:25781363 | T | C | 2 | a0001c0001t0001g0208 a0001c0001t0001g0209 |
2 | NA18944.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.131+1897A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781363 | |||||||
| chr3:25781410 | A | T | 1 | a0001c0001t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.131+1850T>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781410 | |||||||
| chr3:25781417 | T | C | 1 | a0001c0001t0005g0011 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.131+1843A>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781417 | |||||||
| chr3:25781468 | A | G | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.131+1792T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781468 | |||||||
| chr3:25781573 | A | G | 1 | a0001c0001t0001g0100 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.131+1687T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781573 | |||||||
| chr3:25781651 | C | T | 5 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(2): Show |
5 | HG02280.hp1 HG02723.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.131+1609G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781651 | |||||||
| chr3:25781681 | G | A | 16 | a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0230 others(13): Show |
17 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.131+1579C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25781681 | |||||||
| chr3:25782031 | G | A | 24 | a0001c0001t0001g0021 a0001c0001t0001g0236 a0001c0001t0001g0237 others(21): Show |
24 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.131+1229C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782031 | |||||||
| chr3:25782049 | G | T | 114 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
119 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.131+1211C>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782049 | |||||||
| chr3:25782276 | T | A | 2 | a0001c0001t0004g0255 a0001c0001t0004g0256 |
2 | HG02109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.131+984A>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782276 | |||||||
| chr3:25782513 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.131+747T>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782513 | |||||||
| chr3:25782526 | G | A | 176 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(173): Show |
182 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(179): Show |
intron_variant | MODIFIER | c.131+734C>T | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782526 | |||||||
| chr3:25782526 | G | C | 1 | a0001c0001t0001g0099 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.131+734C>G | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782526 | |||||||
| chr3:25782903 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.131+357G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25782903 | |||||||
| chr3:25783128 | C | T | 1 | a0001c0001t0002g0012 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.131+132G>A | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25783128 | |||||||
| chr3:25783157 | C | G | 1 | a0001c0001t0001g0021 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.131+103G>C | NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 1/11 | chr3 | 25783157 |