Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 10400 |
| ensemblid | ENSG00000133027.18 |
| hgncid | 8830 |
| symbol | PEMT |
| name | phosphatidylethanolamine N-methyltransferase |
| refseq_nuc | NM_148172.3 |
| refseq_prot | NP_680477.1 |
| ensembl_nuc | ENST00000255389.10 |
| ensembl_prot | ENSP00000255389.5 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 17505563 |
| end | 17591708 |
| strand | - |
| ver | v1.2 |
| region | chr17:17505563-17591708 |
| region5000 | chr17:17500563-17596708 |
| regionname0 | PEMT_chr17_17505563_17591708 |
| regionname5000 | PEMT_chr17_17500563_17596708 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 236 | 194 | 57 | 23 | 93 | 2 | 18 | 68 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0002 | 0/1 | 236 | 73 | 18 | 22 | 16 | 6 | 10 | 9 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0003 | 0/0 | 236 | 59 | 6 | 22 | 18 | 7 | 6 | 17 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0004 | 0/0 | 236 | 10 | 4 | 1 | 1 | 1 | 3 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0005 | 0/0 | 236 | 7 | 7 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0006 | 0/0 | 236 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0007 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0008 | 0/0 | 236 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0009 | 0/0 | 236 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| a0010 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | MKRSG others(231): Show |
chr17 | 17500563 | 17596708 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 708 | 194 | 57 | 23 | 93 | 2 | 18 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0002c0002 | 0/1 | 708 | 71 | 18 | 22 | 14 | 6 | 10 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0002c0009 | 0/0 | 708 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0002c0012 | 0/0 | 708 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0003c0003 | 0/0 | 708 | 51 | 6 | 20 | 16 | 6 | 3 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0003c0004 | 0/0 | 708 | 8 | 0 | 2 | 2 | 1 | 3 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0004c0005 | 0/0 | 708 | 8 | 4 | 0 | 1 | 0 | 3 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0004c0007 | 0/0 | 708 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0005c0006 | 0/0 | 708 | 7 | 7 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0006c0013 | 0/0 | 708 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0007c0008 | 0/0 | 708 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0008c0011 | 0/0 | 708 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0009c0010 | 0/0 | 708 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 | ||
| a0010c0014 | 0/0 | 708 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ATGAA others(703): Show |
chr17 | 17500563 | 17596708 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 1021 | 191 | 54 | 23 | 93 | 2 | 18 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0001c0001t0002 | 0/0 | 1021 | 2 | 2 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0001c0001t0003 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0002c0002t0001 | 0/1 | 1021 | 71 | 18 | 22 | 14 | 6 | 10 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0002c0009t0001 | 0/0 | 1021 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0002c0012t0001 | 0/0 | 1021 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0003c0003t0001 | 0/0 | 1021 | 51 | 6 | 20 | 16 | 6 | 3 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0003c0004t0001 | 0/0 | 1021 | 8 | 0 | 2 | 2 | 1 | 3 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0004c0005t0001 | 0/0 | 1021 | 8 | 4 | 0 | 1 | 0 | 3 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0004c0007t0001 | 0/0 | 1021 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0005c0006t0001 | 0/0 | 1021 | 6 | 6 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0005c0006t0002 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0006c0013t0001 | 0/0 | 1021 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0007c0008t0001 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0008c0011t0001 | 0/0 | 1021 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0009c0010t0001 | 0/0 | 1021 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| a0010c0014t0001 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | ACTTA others(1016): Show |
chr17 | 17500563 | 17596708 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0011 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0012 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0278 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0293 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0308 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0314 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0317 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0322 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0326 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0002g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0185 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0242 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0243 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0244 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0279 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0280 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0309 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0311 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0320 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0009t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0012t0001g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0001 | 0/0 | 7 | 1 | 2 | 0 | 2 | 2 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0002 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0004 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0007t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0007t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0006c0013t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0007c0008t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0008c0011t0001g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0009c0010t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0010c0014t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0100 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00099 | hp2 | a0002 | c0002 | t0001 | g0131 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00140 | hp1 | a0003 | c0003 | t0001 | g0147 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00140 | hp2 | a0002 | c0002 | t0001 | g0243 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00280 | hp1 | a0002 | c0002 | t0001 | g0247 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00280 | hp2 | a0003 | c0003 | t0001 | g0048 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0125 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00323 | hp2 | a0003 | c0003 | t0001 | g0004 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0275 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0288 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0292 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00544 | hp1 | a0004 | c0005 | t0001 | g0053 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00544 | hp2 | a0002 | c0002 | t0001 | g0167 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00639 | hp1 | a0002 | c0002 | t0001 | g0123 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00639 | hp2 | a0003 | c0003 | t0001 | g0001 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0286 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0139 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01069 | hp1 | a0002 | c0002 | t0001 | g0166 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01069 | hp2 | a0002 | c0002 | t0001 | g0119 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0231 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01070 | hp2 | a0003 | c0003 | t0001 | g0144 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01071 | hp1 | a0002 | c0002 | t0001 | g0007 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01081 | hp1 | a0003 | c0003 | t0001 | g0001 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01081 | hp2 | a0002 | c0002 | t0001 | g0249 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0109 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01099 | hp2 | a0002 | c0002 | t0001 | g0007 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01106 | hp1 | a0003 | c0003 | t0001 | g0031 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0261 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0263 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01167 | hp1 | a0002 | c0002 | t0001 | g0224 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01167 | hp2 | a0003 | c0003 | t0001 | g0037 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01168 | hp1 | a0003 | c0003 | t0001 | g0038 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01168 | hp2 | a0002 | c0002 | t0001 | g0245 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01169 | hp1 | a0003 | c0003 | t0001 | g0069 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01169 | hp2 | a0002 | c0002 | t0001 | g0223 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01175 | hp1 | a0003 | c0003 | t0001 | g0064 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0293 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0254 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01192 | hp2 | a0003 | c0004 | t0001 | g0056 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01243 | hp1 | a0003 | c0003 | t0001 | g0138 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01243 | hp2 | a0002 | c0002 | t0001 | g0250 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01255 | hp1 | a0003 | c0003 | t0001 | g0071 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01255 | hp2 | a0002 | c0002 | t0001 | g0309 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01256 | hp1 | a0003 | c0003 | t0001 | g0269 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01256 | hp2 | a0002 | c0002 | t0001 | g0129 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0063 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01257 | hp2 | a0004 | c0007 | t0001 | g0035 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0040 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01258 | hp2 | a0002 | c0002 | t0001 | g0141 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01261 | hp1 | a0003 | c0004 | t0001 | g0045 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01346 | hp1 | a0003 | c0003 | t0001 | g0066 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01346 | hp2 | a0003 | c0003 | t0001 | g0058 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01358 | hp1 | a0006 | c0013 | t0001 | g0061 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0308 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01361 | hp1 | a0003 | c0003 | t0001 | g0268 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01361 | hp2 | a0003 | c0003 | t0001 | g0051 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0192 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0274 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01496 | hp1 | a0002 | c0002 | t0001 | g0260 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01496 | hp2 | a0003 | c0003 | t0001 | g0068 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01515 | hp1 | a0003 | c0003 | t0001 | g0001 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01515 | hp2 | a0002 | c0002 | t0001 | g0244 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01517 | hp1 | a0002 | c0002 | t0001 | g0242 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01517 | hp2 | a0003 | c0003 | t0001 | g0004 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01884 | hp2 | a0004 | c0005 | t0001 | g0052 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01891 | hp1 | a0007 | c0008 | t0001 | g0021 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0194 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0310 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0262 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01952 | hp1 | a0002 | c0002 | t0001 | g0230 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0072 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0259 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0314 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01981 | hp2 | a0003 | c0003 | t0001 | g0049 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01993 | hp1 | a0003 | c0003 | t0001 | g0030 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01993 | hp2 | a0002 | c0002 | t0001 | g0279 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02004 | hp1 | a0003 | c0003 | t0001 | g0050 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02004 | hp2 | a0002 | c0002 | t0001 | g0280 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02040 | hp1 | a0002 | c0002 | t0001 | g0157 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02040 | hp2 | a0002 | c0002 | t0001 | g0233 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0312 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02055 | hp2 | a0003 | c0003 | t0001 | g0188 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0074 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02074 | hp2 | a0002 | c0012 | t0001 | g0294 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0297 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0290 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02145 | hp2 | a0003 | c0003 | t0001 | g0042 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0246 | EAS | CDX | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02165 | hp2 | a0003 | c0003 | t0001 | g0065 | EAS | CDX | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02257 | hp1 | a0003 | c0003 | t0001 | g0001 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02257 | hp2 | a0002 | c0002 | t0001 | g0150 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0013 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02258 | hp2 | a0002 | c0002 | t0001 | g0132 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0271 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02280 | hp1 | a0002 | c0002 | t0001 | g0227 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02293 | hp1 | a0008 | c0011 | t0001 | g0313 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02293 | hp2 | a0002 | c0002 | t0001 | g0228 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02523 | hp1 | a0002 | c0002 | t0001 | g0327 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02572 | hp1 | a0002 | c0002 | t0001 | g0088 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02572 | hp2 | a0005 | c0006 | t0001 | g0016 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0121 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0083 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0160 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02647 | hp2 | a0002 | c0002 | t0001 | g0128 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02683 | hp1 | a0003 | c0003 | t0001 | g0212 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0241 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02698 | hp1 | a0004 | c0005 | t0001 | g0033 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0211 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0032 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02735 | hp1 | a0004 | c0005 | t0001 | g0036 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0221 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02738 | hp1 | a0009 | c0010 | t0001 | g0195 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0142 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0255 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02818 | hp1 | a0005 | c0006 | t0001 | g0015 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0171 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0174 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0253 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02895 | hp2 | a0002 | c0002 | t0001 | g0130 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02896 | hp1 | a0002 | c0002 | t0001 | g0127 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02896 | hp2 | a0004 | c0005 | t0001 | g0201 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02897 | hp1 | a0004 | c0005 | t0001 | g0202 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02897 | hp2 | a0002 | c0002 | t0001 | g0126 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0198 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02970 | hp1 | a0002 | c0002 | t0001 | g0199 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0325 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02976 | hp1 | a0002 | c0002 | t0001 | g0145 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02976 | hp2 | a0002 | c0002 | t0001 | g0146 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0277 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0012 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0135 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0186 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0092 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03098 | hp2 | a0002 | c0002 | t0001 | g0143 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0081 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03139 | hp2 | a0003 | c0003 | t0001 | g0062 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0197 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03225 | hp2 | a0002 | c0002 | t0001 | g0196 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03239 | hp1 | a0002 | c0002 | t0001 | g0124 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03239 | hp2 | a0002 | c0002 | t0001 | g0234 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03453 | hp1 | a0004 | c0005 | t0001 | g0267 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0136 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0133 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0258 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0272 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03491 | hp1 | a0003 | c0003 | t0001 | g0001 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03491 | hp2 | a0002 | c0002 | t0001 | g0251 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03492 | hp1 | a0003 | c0003 | t0001 | g0001 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03516 | hp1 | a0003 | c0003 | t0001 | g0187 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0079 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03540 | hp1 | a0002 | c0002 | t0001 | g0026 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0137 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03669 | hp2 | a0002 | c0002 | t0001 | g0252 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0317 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0059 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0047 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03831 | hp2 | a0002 | c0002 | t0001 | g0189 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0222 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0055 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0210 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03942 | hp2 | a0003 | c0004 | t0001 | g0108 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0240 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04115 | hp2 | a0002 | c0002 | t0001 | g0311 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04184 | hp1 | a0004 | c0005 | t0001 | g0205 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0229 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0102 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0235 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0304 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04228 | hp2 | a0003 | c0004 | t0001 | g0208 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18522 | hp1 | a0002 | c0002 | t0001 | g0140 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0091 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0236 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0093 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18747 | hp1 | a0002 | c0002 | t0001 | g0238 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0296 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18906 | hp1 | a0005 | c0006 | t0001 | g0017 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0193 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18939 | hp1 | a0003 | c0003 | t0001 | g0216 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0298 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18941 | hp2 | a0003 | c0003 | t0001 | g0025 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18947 | hp1 | a0002 | c0009 | t0001 | g0302 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18947 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18948 | hp2 | a0003 | c0003 | t0001 | g0070 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0326 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0307 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0284 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18959 | hp2 | a0002 | c0002 | t0001 | g0315 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0303 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18964 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18967 | hp1 | a0003 | c0003 | t0001 | g0219 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0301 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18968 | hp2 | a0002 | c0002 | t0001 | g0206 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0300 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18970 | hp2 | a0003 | c0003 | t0001 | g0215 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0281 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18973 | hp2 | a0002 | c0002 | t0001 | g0155 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18975 | hp1 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18977 | hp2 | a0003 | c0003 | t0001 | g0256 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18979 | hp1 | a0002 | c0002 | t0001 | g0239 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18979 | hp2 | a0003 | c0003 | t0001 | g0217 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0232 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0283 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18985 | hp1 | a0003 | c0003 | t0001 | g0041 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18986 | hp1 | a0003 | c0004 | t0001 | g0054 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18986 | hp2 | a0002 | c0002 | t0001 | g0265 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0285 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0323 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0306 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0295 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19004 | hp2 | a0003 | c0003 | t0001 | g0044 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19005 | hp1 | a0003 | c0003 | t0001 | g0220 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0299 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0318 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19011 | hp1 | a0003 | c0004 | t0001 | g0023 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0324 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19043 | hp2 | a0002 | c0002 | t0001 | g0116 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0287 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0319 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0276 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19074 | hp1 | a0002 | c0002 | t0001 | g0316 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0273 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19079 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0289 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0322 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19088 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0257 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19091 | hp2 | a0002 | c0002 | t0001 | g0291 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0154 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0089 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20129 | hp1 | a0005 | c0006 | t0001 | g0018 | AFR | ASW | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | ASW | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0270 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20752 | hp2 | a0004 | c0007 | t0001 | g0106 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20805 | hp1 | a0003 | c0004 | t0001 | g0057 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20805 | hp2 | a0003 | c0003 | t0001 | g0001 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20905 | hp1 | a0003 | c0004 | t0001 | g0112 | SAS | GIH | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0248 | SAS | GIH | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01123 | hp1 | a0003 | c0003 | t0001 | g0043 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01123 | hp2 | a0002 | c0002 | t0001 | g0320 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0203 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02486 | hp2 | a0005 | c0006 | t0001 | g0020 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03471 | hp2 | a0005 | c0006 | t0001 | g0019 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG06807 | hp1 | a0005 | c0006 | t0002 | g0014 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0305 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20300 | hp1 | a0003 | c0003 | t0001 | g0200 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20300 | hp2 | a0002 | c0002 | t0001 | g0321 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA21309 | hp2 | a0010 | c0014 | t0001 | g0060 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| homoSapiens | chm13v2 | a0002 | c0002 | t0001 | g0185 | REF | REF | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0278 | REF | REF | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17506246 | C | T | 4 | a0002 a0003 a0006 others(1): Show |
133 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(130): Show |
missense_variant | MODERATE | c.634G>A | p.Val212Met | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/7 | 716/1021 | 634/711 | 212/236 | chr17 | 17506246 | |||
| chr17:17509507 | C | T | 1 | a0009 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.505G>A | p.Val169Met | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/7 | 587/1021 | 505/711 | 169/236 | chr17 | 17509507 | |||
| chr17:17512649 | G | A | 1 | a0008 | 1 | HG02293.hp1 | missense_variant | MODERATE | c.326C>T | p.Thr109Met | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/7 | 408/1021 | 326/711 | 109/236 | chr17 | 17512649 | |||
| chr17:17522317 | C | T | 2 | a0003 a0004 |
69 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(66): Show |
missense_variant | MODERATE | c.283G>A | p.Val95Ile | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/7 | 365/1021 | 283/711 | 95/236 | chr17 | 17522317 | |||
| chr17:17577006 | G | A | 2 | a0006 a0010 |
2 | HG01358.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.118C>T | p.Arg40Trp | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/7 | 200/1021 | 118/711 | 40/236 | chr17 | 17577006 | |||
| chr17:17591595 | A | G | 2 | a0005 a0007 |
8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
missense_variant | MODERATE | c.32T>C | p.Val11Ala | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/7 | 114/1021 | 32/711 | 11/236 | chr17 | 17591595 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17512579 | C | T | 3 | a0002c0009 a0003c0004 a0004c0007 |
11 | HG01192.hp2 HG01257.hp2 HG01261.hp1 others(8): Show |
synonymous_variant | LOW | c.396G>A | p.Ala132Ala | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/7 | 478/1021 | 396/711 | 132/236 | chr17 | 17512579 | |||
| chr17:17577003 | G | A | 1 | a0002c0012 | 1 | HG02074.hp2 | synonymous_variant | LOW | c.121C>T | p.Leu41Leu | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/7 | 203/1021 | 121/711 | 41/236 | chr17 | 17577003 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17505718 | C | A | 2 | a0001c0001t0002 a0005c0006t0002 |
3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*73G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 7/7 | 73 | chr17 | 17505718 | ||||||
| chr17:17591640 | C | T | 1 | a0001c0001t0003 | 1 | HG02258.hp1 | 5_prime_UTR_variant | MODIFIER | c.-14G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/7 | 14 | chr17 | 17591640 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17506016 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0003g0013 |
2 | HG02258.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.654-168G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506016 | |||||||
| chr17:17506042 | G | C | 1 | a0001c0001t0001g0273 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.653+185C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506042 | |||||||
| chr17:17506043 | C | T | 1 | a0001c0001t0001g0273 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.653+184G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506043 | |||||||
| chr17:17506087 | G | A | 116 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 others(113): Show |
128 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(125): Show |
intron_variant | MODIFIER | c.653+140C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506087 | |||||||
| chr17:17506369 | C | T | 46 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0073 others(43): Show |
48 | HG00423.hp1 HG00438.hp2 HG01099.hp1 others(45): Show |
intron_variant | MODIFIER | c.579-68G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506369 | |||||||
| chr17:17506395 | T | A | 131 | a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0092 others(128): Show |
144 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(141): Show |
intron_variant | MODIFIER | c.579-94A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506395 | |||||||
| chr17:17506484 | G | C | 2 | a0001c0001t0001g0307 a0001c0001t0001g0323 |
2 | NA18949.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.579-183C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506484 | |||||||
| chr17:17506590 | C | T | 3 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0186 |
3 | HG03041.hp2 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.579-289G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506590 | |||||||
| chr17:17506623 | G | A | 4 | a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0092 others(1): Show |
5 | HG03041.hp2 HG03098.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.579-322C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506623 | |||||||
| chr17:17506663 | GAGGAGAT others(8): Show |
G | 1 | a0001c0001t0001g0273 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.579-377_579-363del others(15): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506663 | |||||||
| chr17:17506739 | A | G | 247 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(244): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
intron_variant | MODIFIER | c.579-438T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506739 | |||||||
| chr17:17506999 | C | T | 1 | a0002c0002t0001g0143 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.579-698G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506999 | |||||||
| chr17:17507048 | C | T | 1 | a0003c0003t0001g0268 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.579-747G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507048 | |||||||
| chr17:17507055 | C | G | 3 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0005c0006t0002g0014 |
3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.579-754G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507055 | |||||||
| chr17:17507155 | A | G | 5 | a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0089 others(2): Show |
5 | HG02559.hp2 HG02615.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.579-854T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507155 | |||||||
| chr17:17507193 | T | C | 21 | a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0091 others(18): Show |
22 | HG01109.hp1 HG02055.hp1 HG02258.hp1 others(19): Show |
intron_variant | MODIFIER | c.579-892A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507193 | |||||||
| chr17:17507208 | A | G | 18 | a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0091 others(15): Show |
19 | HG01109.hp1 HG02258.hp1 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.579-907T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507208 | |||||||
| chr17:17507279 | C | T | 2 | a0001c0001t0001g0222 a0001c0001t0001g0237 |
2 | HG02015.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.579-978G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507279 | |||||||
| chr17:17507373 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.579-1072C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507373 | |||||||
| chr17:17507374 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.579-1073G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507374 | |||||||
| chr17:17507603 | A | T | 1 | a0001c0001t0001g0113 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.579-1302T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507603 | |||||||
| chr17:17507660 | G | A | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.579-1359C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507660 | |||||||
| chr17:17507716 | A | G | 30 | a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 others(27): Show |
31 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(28): Show |
intron_variant | MODIFIER | c.579-1415T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507716 | |||||||
| chr17:17507742 | C | T | 4 | a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(1): Show |
4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-1441G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507742 | |||||||
| chr17:17507764 | C | G | 4 | a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(1): Show |
4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-1463G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507764 | |||||||
| chr17:17507792 | T | C | 1 | a0001c0001t0001g0273 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.579-1491A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507792 | |||||||
| chr17:17507872 | C | T | 1 | a0002c0002t0001g0124 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.578+1562G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507872 | |||||||
| chr17:17507897 | C | T | 113 | a0001c0001t0001g0105 a0001c0001t0001g0210 a0002c0002t0001g0007 others(110): Show |
125 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.578+1537G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507897 | |||||||
| chr17:17507907 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0003g0013 |
2 | HG02258.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.578+1527C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507907 | |||||||
| chr17:17507953 | T | C | 4 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(1): Show |
4 | HG01891.hp2 HG02145.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.578+1481A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507953 | |||||||
| chr17:17508032 | C | T | 1 | a0001c0001t0001g0290 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.578+1402G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508032 | |||||||
| chr17:17508051 | G | C | 5 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0186 others(2): Show |
5 | HG00741.hp2 HG01433.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.578+1383C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508051 | |||||||
| chr17:17508102 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.578+1332G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508102 | |||||||
| chr17:17508188 | C | G | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+1246G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508188 | |||||||
| chr17:17508207 | G | T | 2 | a0001c0001t0001g0096 a0002c0002t0001g0230 |
2 | HG01952.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.578+1227C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508207 | |||||||
| chr17:17508275 | TG | T | 9 | a0001c0001t0001g0085 a0001c0001t0001g0120 a0001c0001t0001g0134 others(6): Show |
9 | HG01109.hp1 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.578+1158delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508275 | |||||||
| chr17:17508363 | G | A | 1 | a0001c0001t0001g0082 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.578+1071C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508363 | |||||||
| chr17:17508402 | C | G | 1 | a0001c0001t0001g0027 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.578+1032G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508402 | |||||||
| chr17:17508470 | G | A | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+964C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508470 | |||||||
| chr17:17508471 | G | A | 1 | a0009c0010t0001g0195 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.578+963C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508471 | |||||||
| chr17:17508577 | A | C | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+857T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508577 | |||||||
| chr17:17508664 | T | C | 2 | a0002c0002t0001g0123 a0002c0002t0001g0131 |
2 | HG00099.hp2 HG00639.hp1 |
intron_variant | MODIFIER | c.578+770A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508664 | |||||||
| chr17:17508718 | G | C | 248 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(245): Show |
266 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
intron_variant | MODIFIER | c.578+716C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508718 | |||||||
| chr17:17508893 | C | T | 4 | a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(1): Show |
4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.578+541G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508893 | |||||||
| chr17:17508966 | C | T | 2 | a0004c0005t0001g0201 a0004c0005t0001g0202 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.578+468G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508966 | |||||||
| chr17:17509133 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.578+301G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17509133 | |||||||
| chr17:17509243 | T | G | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+191A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17509243 | |||||||
| chr17:17509573 | C | T | 2 | a0001c0001t0001g0134 a0003c0003t0001g0212 |
2 | HG02647.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.467-28G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509573 | |||||||
| chr17:17509635 | G | A | 3 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0186 |
3 | HG03041.hp2 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.467-90C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509635 | |||||||
| chr17:17509699 | T | G | 3 | a0002c0002t0001g0233 a0002c0002t0001g0235 a0004c0005t0001g0205 |
3 | HG02040.hp2 HG04184.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.467-154A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509699 | |||||||
| chr17:17509733 | G | A | 9 | a0001c0001t0001g0009 a0001c0001t0001g0107 a0001c0001t0001g0110 others(6): Show |
10 | HG00673.hp2 HG02015.hp1 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.467-188C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509733 | |||||||
| chr17:17509766 | C | T | 7 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0102 others(4): Show |
8 | HG02886.hp1 HG02970.hp2 HG03017.hp2 others(5): Show |
intron_variant | MODIFIER | c.467-221G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509766 | |||||||
| chr17:17509862 | C | T | 2 | a0002c0002t0001g0249 a0002c0002t0001g0320 |
2 | HG01081.hp2 HG01123.hp2 |
intron_variant | MODIFIER | c.467-317G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509862 | |||||||
| chr17:17509893 | C | T | 4 | a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(1): Show |
4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.467-348G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509893 | |||||||
| chr17:17509895 | C | G | 2 | a0004c0005t0001g0201 a0004c0005t0001g0202 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.467-350G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509895 | |||||||
| chr17:17509980 | C | G | 1 | a0003c0003t0001g0269 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.467-435G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509980 | |||||||
| chr17:17509997 | C | T | 50 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0032 others(47): Show |
53 | HG00423.hp1 HG00438.hp2 HG01099.hp1 others(50): Show |
intron_variant | MODIFIER | c.467-452G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509997 | |||||||
| chr17:17510136 | C | T | 6 | a0001c0001t0001g0085 a0001c0001t0001g0154 a0001c0001t0001g0161 others(3): Show |
6 | HG01109.hp1 HG01891.hp2 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.467-591G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510136 | |||||||
| chr17:17510212 | A | G | 1 | a0001c0001t0002g0079 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.467-667T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510212 | |||||||
| chr17:17510235 | G | A | 1 | a0003c0003t0001g0031 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.467-690C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510235 | |||||||
| chr17:17510342 | C | T | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.467-797G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510342 | |||||||
| chr17:17510501 | A | G | 2 | a0001c0001t0001g0006 a0001c0001t0001g0134 |
3 | HG02647.hp1 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.467-956T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510501 | |||||||
| chr17:17510557 | C | T | 4 | a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(1): Show |
4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.467-1012G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510557 | |||||||
| chr17:17510651 | T | C | 13 | a0001c0001t0001g0091 a0001c0001t0001g0151 a0001c0001t0001g0197 others(10): Show |
14 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.467-1106A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510651 | |||||||
| chr17:17510655 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.467-1110C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510655 | |||||||
| chr17:17510656 | C | T | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.467-1111G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510656 | |||||||
| chr17:17510681 | G | A | 2 | a0001c0001t0001g0085 a0001c0001t0001g0203 |
2 | HG01109.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.467-1136C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510681 | |||||||
| chr17:17510819 | C | T | 1 | a0003c0003t0001g0212 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.467-1274G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510819 | |||||||
| chr17:17510969 | T | G | 12 | a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0077 others(9): Show |
13 | HG02258.hp2 HG02451.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.467-1424A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510969 | |||||||
| chr17:17511280 | T | C | 316 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(313): Show |
337 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
intron_variant | MODIFIER | c.466+1229A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511280 | |||||||
| chr17:17511525 | A | T | 4 | a0001c0001t0001g0134 a0001c0001t0001g0149 a0004c0005t0001g0201 others(1): Show |
4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.466+984T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511525 | |||||||
| chr17:17511681 | G | A | 5 | a0001c0001t0001g0325 a0005c0006t0001g0017 a0005c0006t0001g0018 others(2): Show |
5 | HG02486.hp2 HG02970.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.466+828C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511681 | |||||||
| chr17:17511743 | G | C | 1 | a0001c0001t0001g0176 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.466+766C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511743 | |||||||
| chr17:17511903 | T | C | 64 | a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 others(61): Show |
75 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(72): Show |
intron_variant | MODIFIER | c.466+606A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511903 | |||||||
| chr17:17511920 | A | G | 1 | a0002c0002t0001g0192 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.466+589T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511920 | |||||||
| chr17:17512037 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0181 |
3 | HG02451.hp2 HG02615.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.466+472C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512037 | |||||||
| chr17:17512046 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.466+463G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512046 | |||||||
| chr17:17512074 | G | A | 4 | a0001c0001t0001g0134 a0001c0001t0001g0149 a0004c0005t0001g0201 others(1): Show |
4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.466+435C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512074 | |||||||
| chr17:17512412 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.466+97G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512412 | |||||||
| chr17:17512799 | G | C | 4 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(1): Show |
4 | HG01891.hp2 HG02145.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.321-145C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17512799 | |||||||
| chr17:17512900 | C | T | 3 | a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0077 |
4 | HG02451.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-246G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17512900 | |||||||
| chr17:17512993 | A | G | 3 | a0001c0001t0001g0039 a0001c0001t0001g0214 a0001c0001t0001g0319 |
3 | HG00408.hp2 NA19064.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.321-339T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17512993 | |||||||
| chr17:17513372 | G | A | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.321-718C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513372 | |||||||
| chr17:17513464 | G | A | 1 | a0001c0001t0001g0296 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.321-810C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513464 | |||||||
| chr17:17513569 | C | T | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.321-915G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513569 | |||||||
| chr17:17513714 | G | A | 2 | a0004c0005t0001g0201 a0004c0005t0001g0202 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.321-1060C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513714 | |||||||
| chr17:17513777 | G | T | 1 | a0002c0002t0001g0327 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.321-1123C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513777 | |||||||
| chr17:17513855 | T | A | 76 | a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0077 others(73): Show |
88 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
intron_variant | MODIFIER | c.321-1201A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513855 | |||||||
| chr17:17513912 | C | A | 1 | a0001c0001t0001g0274 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.321-1258G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513912 | |||||||
| chr17:17514107 | A | C | 1 | a0001c0001t0001g0204 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.321-1453T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514107 | |||||||
| chr17:17514209 | C | T | 1 | a0002c0002t0001g0088 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.321-1555G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514209 | |||||||
| chr17:17514280 | G | A | 8 | a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0081 others(5): Show |
9 | HG02451.hp1 HG02622.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.321-1626C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514280 | |||||||
| chr17:17514292 | G | A | 1 | a0003c0004t0001g0045 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.321-1638C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514292 | |||||||
| chr17:17514494 | C | T | 12 | a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0037 others(9): Show |
19 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.321-1840G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514494 | |||||||
| chr17:17514518 | C | T | 4 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 others(1): Show |
4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-1864G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514518 | |||||||
| chr17:17514805 | G | A | 1 | a0003c0003t0001g0070 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.321-2151C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514805 | |||||||
| chr17:17514984 | A | T | 4 | a0001c0001t0001g0134 a0001c0001t0001g0149 a0004c0005t0001g0201 others(1): Show |
4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-2330T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514984 | |||||||
| chr17:17514990 | C | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.321-2336G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514990 | |||||||
| chr17:17514990 | C | T | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.321-2336G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514990 | |||||||
| chr17:17515070 | G | C | 1 | a0001c0001t0001g0204 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.321-2416C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515070 | |||||||
| chr17:17515118 | C | G | 9 | a0001c0001t0001g0134 a0001c0001t0001g0149 a0001c0001t0001g0325 others(6): Show |
9 | HG02486.hp2 HG02647.hp1 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.321-2464G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515118 | |||||||
| chr17:17515118 | C | T | 9 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(6): Show |
9 | HG01192.hp1 HG01891.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.321-2464G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515118 | |||||||
| chr17:17515130 | C | T | 3 | a0001c0001t0001g0092 a0001c0001t0001g0159 a0001c0001t0001g0186 |
3 | HG01884.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.321-2476G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515130 | |||||||
| chr17:17515187 | A | G | 1 | a0001c0001t0001g0263 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.321-2533T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515187 | |||||||
| chr17:17515280 | A | G | 196 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(193): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.321-2626T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515280 | |||||||
| chr17:17515421 | C | A | 9 | a0001c0001t0001g0009 a0001c0001t0001g0107 a0001c0001t0001g0110 others(6): Show |
10 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.321-2767G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515421 | |||||||
| chr17:17515538 | G | A | 4 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 others(1): Show |
4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-2884C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515538 | |||||||
| chr17:17515876 | C | T | 1 | a0002c0002t0001g0145 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.321-3222G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515876 | |||||||
| chr17:17515907 | G | A | 1 | a0001c0001t0001g0290 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.321-3253C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515907 | |||||||
| chr17:17516024 | G | C | 186 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(183): Show |
203 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
intron_variant | MODIFIER | c.321-3370C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516024 | |||||||
| chr17:17516567 | C | T | 4 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 others(1): Show |
4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-3913G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516567 | |||||||
| chr17:17516615 | C | A | 5 | a0001c0001t0001g0325 a0005c0006t0001g0017 a0005c0006t0001g0018 others(2): Show |
5 | HG02486.hp2 HG02970.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.321-3961G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516615 | |||||||
| chr17:17516837 | T | C | 195 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(192): Show |
212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.321-4183A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516837 | |||||||
| chr17:17516847 | C | T | 2 | a0001c0001t0003g0013 a0007c0008t0001g0021 |
2 | HG01891.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.321-4193G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516847 | |||||||
| chr17:17516880 | C | A | 4 | a0001c0001t0001g0134 a0001c0001t0001g0149 a0004c0005t0001g0201 others(1): Show |
4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-4226G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516880 | |||||||
| chr17:17516885 | G | A | 43 | a0002c0002t0001g0155 a0002c0002t0001g0189 a0003c0003t0001g0001 others(40): Show |
54 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
intron_variant | MODIFIER | c.321-4231C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516885 | |||||||
| chr17:17516903 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.321-4249G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516903 | |||||||
| chr17:17516904 | T | G | 195 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(192): Show |
212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.321-4250A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516904 | |||||||
| chr17:17516920 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.321-4266C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516920 | |||||||
| chr17:17516975 | T | C | 6 | a0001c0001t0001g0151 a0001c0001t0001g0325 a0005c0006t0001g0017 others(3): Show |
6 | HG02486.hp2 HG02559.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.321-4321A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516975 | |||||||
| chr17:17517155 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.321-4501G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517155 | |||||||
| chr17:17517479 | C | T | 63 | a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 others(60): Show |
74 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.320+4801G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517479 | |||||||
| chr17:17517608 | C | A | 4 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 others(1): Show |
4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.320+4672G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517608 | |||||||
| chr17:17517873 | G | C | 134 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 others(131): Show |
148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.320+4407C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517873 | |||||||
| chr17:17518137 | G | A | 20 | a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0077 others(17): Show |
21 | HG01884.hp1 HG02258.hp2 HG02451.hp2 others(18): Show |
intron_variant | MODIFIER | c.320+4143C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518137 | |||||||
| chr17:17518164 | C | T | 5 | a0003c0003t0001g0144 a0003c0003t0001g0187 a0003c0003t0001g0188 others(2): Show |
5 | HG01070.hp2 HG02055.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.320+4116G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518164 | |||||||
| chr17:17518282 | C | T | 1 | a0001c0001t0001g0109 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.320+3998G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518282 | |||||||
| chr17:17518484 | C | T | 13 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(10): Show |
13 | HG01433.hp1 HG01884.hp2 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.320+3796G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518484 | |||||||
| chr17:17518661 | C | T | 3 | a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0200 |
3 | HG02055.hp2 HG03516.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.320+3619G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518661 | |||||||
| chr17:17518729 | T | C | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.320+3551A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518729 | |||||||
| chr17:17518768 | C | T | 1 | a0001c0001t0001g0076 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.320+3512G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518768 | |||||||
| chr17:17518817 | G | A | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.320+3463C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518817 | |||||||
| chr17:17519039 | A | G | 3 | a0001c0001t0001g0076 a0002c0002t0001g0128 a0002c0002t0001g0139 |
3 | HG00741.hp2 HG02451.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.320+3241T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519039 | |||||||
| chr17:17519040 | C | T | 79 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0134 others(76): Show |
90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.320+3240G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519040 | |||||||
| chr17:17519082 | T | G | 46 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(43): Show |
50 | HG00544.hp2 HG01891.hp1 HG01978.hp1 others(47): Show |
intron_variant | MODIFIER | c.320+3198A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519082 | |||||||
| chr17:17519106 | C | T | 2 | a0002c0002t0001g0265 a0002c0012t0001g0294 |
2 | HG02074.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.320+3174G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519106 | |||||||
| chr17:17519183 | C | A | 2 | a0002c0002t0001g0129 a0002c0002t0001g0141 |
2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.320+3097G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519183 | |||||||
| chr17:17519184 | G | A | 11 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0102 others(8): Show |
12 | HG02055.hp1 HG03017.hp2 HG03516.hp2 others(9): Show |
intron_variant | MODIFIER | c.320+3096C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519184 | |||||||
| chr17:17519252 | G | T | 1 | a0002c0002t0001g0235 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.320+3028C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519252 | |||||||
| chr17:17519253 | G | C | 1 | a0002c0002t0001g0238 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.320+3027C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519253 | |||||||
| chr17:17519294 | A | G | 59 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0073 others(56): Show |
61 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.320+2986T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519294 | |||||||
| chr17:17519395 | G | A | 1 | a0002c0002t0001g0235 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.320+2885C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519395 | |||||||
| chr17:17519454 | T | G | 155 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(152): Show |
170 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.320+2826A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519454 | |||||||
| chr17:17519550 | G | C | 1 | a0001c0001t0001g0103 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.320+2730C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519550 | |||||||
| chr17:17519604 | C | A | 4 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 others(1): Show |
4 | HG01884.hp1 HG01884.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.320+2676G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519604 | |||||||
| chr17:17519673 | G | T | 3 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 |
3 | HG01884.hp1 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.320+2607C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519673 | |||||||
| chr17:17519831 | C | T | 3 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0159 |
3 | HG01884.hp1 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.320+2449G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519831 | |||||||
| chr17:17519969 | T | G | 31 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(28): Show |
31 | HG00438.hp2 HG00544.hp2 HG01978.hp1 others(28): Show |
intron_variant | MODIFIER | c.320+2311A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519969 | |||||||
| chr17:17520342 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.320+1938C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520342 | |||||||
| chr17:17520359 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.320+1921A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520359 | |||||||
| chr17:17520382 | T | A | 2 | a0003c0003t0001g0048 a0003c0003t0001g0071 |
2 | HG00280.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.320+1898A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520382 | |||||||
| chr17:17520566 | C | A | 6 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 others(3): Show |
6 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(3): Show |
intron_variant | MODIFIER | c.320+1714G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520566 | |||||||
| chr17:17520583 | T | A | 7 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0102 others(4): Show |
8 | HG03017.hp2 HG03669.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.320+1697A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520583 | |||||||
| chr17:17520594 | C | A | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.320+1686G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520594 | |||||||
| chr17:17520676 | T | A | 1 | a0001c0001t0001g0277 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.320+1604A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520676 | |||||||
| chr17:17520733 | C | T | 7 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0102 others(4): Show |
8 | HG03017.hp2 HG03669.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.320+1547G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520733 | |||||||
| chr17:17520989 | C | T | 18 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(15): Show |
20 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(17): Show |
intron_variant | MODIFIER | c.320+1291G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520989 | |||||||
| chr17:17521019 | G | A | 243 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(240): Show |
262 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
intron_variant | MODIFIER | c.320+1261C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521019 | |||||||
| chr17:17521185 | G | C | 79 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(76): Show |
92 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.320+1095C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521185 | |||||||
| chr17:17521246 | T | C | 5 | a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0149 others(2): Show |
5 | HG02559.hp1 HG02615.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.320+1034A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521246 | |||||||
| chr17:17521261 | C | T | 1 | a0001c0001t0001g0034 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.320+1019G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521261 | |||||||
| chr17:17521290 | G | A | 2 | a0001c0001t0001g0149 a0002c0002t0001g0140 |
2 | HG02965.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.320+990C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521290 | |||||||
| chr17:17521427 | C | A | 1 | a0001c0001t0001g0076 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.320+853G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521427 | |||||||
| chr17:17521560 | C | CT | 6 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 others(3): Show |
6 | HG02451.hp2 HG02559.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.320+719dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521560 | |||||||
| chr17:17521564 | TA | T | 6 | a0001c0001t0001g0115 a0001c0001t0001g0225 a0001c0001t0001g0272 others(3): Show |
6 | HG01070.hp2 HG01168.hp2 HG02523.hp2 others(3): Show |
intron_variant | MODIFIER | c.320+715delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521564 | |||||||
| chr17:17521565 | A | T | 315 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(312): Show |
336 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
intron_variant | MODIFIER | c.320+715T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521565 | |||||||
| chr17:17521566 | A | T | 21 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0102 others(18): Show |
22 | HG01070.hp2 HG01168.hp2 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.320+714T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521566 | |||||||
| chr17:17521620 | A | G | 1 | a0001c0001t0001g0109 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.320+660T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521620 | |||||||
| chr17:17521688 | T | C | 191 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.320+592A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521688 | |||||||
| chr17:17521755 | C | T | 23 | a0001c0001t0001g0003 a0001c0001t0001g0092 a0001c0001t0001g0117 others(20): Show |
25 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(22): Show |
intron_variant | MODIFIER | c.320+525G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521755 | |||||||
| chr17:17521804 | T | C | 1 | a0002c0002t0001g0316 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.320+476A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521804 | |||||||
| chr17:17521953 | C | T | 1 | a0001c0001t0001g0193 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.320+327G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521953 | |||||||
| chr17:17521965 | C | T | 24 | a0001c0001t0001g0003 a0001c0001t0001g0092 a0001c0001t0001g0117 others(21): Show |
26 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.320+315G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521965 | |||||||
| chr17:17522116 | C | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 |
3 | HG02451.hp2 HG02615.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.320+164G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17522116 | |||||||
| chr17:17522203 | A | G | 34 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0121 others(31): Show |
34 | HG00438.hp2 HG00544.hp2 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.320+77T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17522203 | |||||||
| chr17:17522226 | G | A | 2 | a0001c0001t0001g0176 a0005c0006t0001g0019 |
2 | HG03471.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.320+54C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17522226 | |||||||
| chr17:17522544 | C | T | 56 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(53): Show |
59 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(56): Show |
intron_variant | MODIFIER | c.205-149G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522544 | |||||||
| chr17:17522695 | T | C | 190 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(187): Show |
207 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
intron_variant | MODIFIER | c.205-300A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522695 | |||||||
| chr17:17522813 | T | A | 114 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(111): Show |
128 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.205-418A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522813 | |||||||
| chr17:17522889 | C | CT | 56 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(53): Show |
59 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(56): Show |
intron_variant | MODIFIER | c.205-495_205-494ins others(1): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522889 | |||||||
| chr17:17522916 | A | G | 2 | a0002c0002t0001g0239 a0002c0002t0001g0291 |
2 | NA18979.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.205-521T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522916 | |||||||
| chr17:17523048 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.205-653C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523048 | |||||||
| chr17:17523219 | T | C | 1 | a0001c0001t0001g0298 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.205-824A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523219 | |||||||
| chr17:17523331 | C | T | 6 | a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0102 others(3): Show |
7 | HG03017.hp2 HG03669.hp1 HG03834.hp2 others(4): Show |
intron_variant | MODIFIER | c.205-936G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523331 | |||||||
| chr17:17523343 | C | G | 1 | a0001c0001t0001g0047 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.205-948G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523343 | |||||||
| chr17:17523508 | A | C | 1 | a0001c0001t0001g0273 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.205-1113T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523508 | |||||||
| chr17:17523509 | G | A | 1 | a0001c0001t0001g0273 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.205-1114C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523509 | |||||||
| chr17:17523568 | C | T | 14 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(11): Show |
16 | HG02257.hp2 HG02451.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-1173G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523568 | |||||||
| chr17:17523690 | A | T | 59 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(56): Show |
62 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(59): Show |
intron_variant | MODIFIER | c.205-1295T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523690 | |||||||
| chr17:17523777 | C | T | 2 | a0001c0001t0001g0024 a0001c0001t0001g0182 |
2 | NA18946.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.205-1382G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523777 | |||||||
| chr17:17523837 | A | C | 1 | a0001c0001t0001g0089 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.205-1442T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523837 | |||||||
| chr17:17523864 | A | G | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-1469T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523864 | |||||||
| chr17:17523910 | C | T | 1 | a0001c0001t0001g0301 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.205-1515G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523910 | |||||||
| chr17:17523955 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG02257.hp2 HG02258.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-1560C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523955 | |||||||
| chr17:17523961 | C | T | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-1566G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523961 | |||||||
| chr17:17523988 | C | T | 1 | a0001c0001t0001g0281 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.205-1593G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523988 | |||||||
| chr17:17524178 | G | A | 54 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(51): Show |
57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-1783C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524178 | |||||||
| chr17:17524226 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.205-1831C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524226 | |||||||
| chr17:17524246 | C | T | 1 | a0002c0002t0001g0234 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.205-1851G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524246 | |||||||
| chr17:17524284 | C | T | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-1889G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524284 | |||||||
| chr17:17524522 | G | A | 10 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0120 others(7): Show |
11 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.205-2127C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524522 | |||||||
| chr17:17524600 | CA | C | 179 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(176): Show |
196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.205-2206delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524600 | |||||||
| chr17:17524612 | A | T | 15 | a0001c0001t0001g0011 a0001c0001t0001g0221 a0001c0001t0001g0222 others(12): Show |
16 | HG01256.hp2 HG01258.hp2 HG01952.hp1 others(13): Show |
intron_variant | MODIFIER | c.205-2217T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524612 | |||||||
| chr17:17524613 | A | T | 15 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0120 others(12): Show |
16 | HG02074.hp2 HG02135.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-2218T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524613 | |||||||
| chr17:17524672 | C | T | 5 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(2): Show |
5 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-2277G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524672 | |||||||
| chr17:17524894 | G | C | 54 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(51): Show |
57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-2499C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524894 | |||||||
| chr17:17524911 | C | A | 1 | a0001c0001t0001g0134 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.205-2516G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524911 | |||||||
| chr17:17524912 | A | G | 11 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0120 others(8): Show |
12 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.205-2517T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524912 | |||||||
| chr17:17524964 | C | T | 61 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(58): Show |
72 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.205-2569G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524964 | |||||||
| chr17:17524999 | C | T | 4 | a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0089 others(1): Show |
4 | HG02559.hp2 HG03471.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-2604G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524999 | |||||||
| chr17:17525184 | C | G | 1 | a0001c0001t0001g0152 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.205-2789G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525184 | |||||||
| chr17:17525316 | G | A | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-2921C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525316 | |||||||
| chr17:17525351 | G | A | 14 | a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0001g0180 others(11): Show |
14 | HG00423.hp1 HG01496.hp1 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.205-2956C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525351 | |||||||
| chr17:17525411 | C | A | 1 | a0003c0004t0001g0108 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.205-3016G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525411 | |||||||
| chr17:17525537 | G | A | 24 | a0001c0001t0001g0003 a0001c0001t0001g0092 a0001c0001t0001g0117 others(21): Show |
26 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.205-3142C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525537 | |||||||
| chr17:17525660 | C | T | 1 | a0002c0009t0001g0302 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.205-3265G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525660 | |||||||
| chr17:17525949 | G | A | 2 | a0002c0002t0001g0230 a0002c0002t0001g0280 |
2 | HG01952.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.205-3554C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525949 | |||||||
| chr17:17525980 | C | G | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.205-3585G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525980 | |||||||
| chr17:17525997 | CAACA | C | 189 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(186): Show |
206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.205-3606_205-3603d others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525997 | |||||||
| chr17:17526157 | A | G | 54 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(51): Show |
57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-3762T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526157 | |||||||
| chr17:17526285 | T | C | 1 | a0001c0001t0001g0111 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.205-3890A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526285 | |||||||
| chr17:17526386 | C | T | 1 | a0002c0002t0001g0315 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.205-3991G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526386 | |||||||
| chr17:17526406 | C | A | 1 | a0001c0001t0001g0214 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.205-4011G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526406 | |||||||
| chr17:17526442 | C | G | 4 | a0001c0001t0001g0134 a0002c0002t0001g0088 a0002c0002t0001g0132 others(1): Show |
4 | HG02258.hp2 HG02572.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-4047G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526442 | |||||||
| chr17:17526454 | C | T | 1 | a0001c0001t0001g0305 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.205-4059G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526454 | |||||||
| chr17:17526461 | C | T | 5 | a0002c0002t0001g0227 a0002c0002t0001g0245 a0002c0002t0001g0246 others(2): Show |
5 | HG01081.hp2 HG01123.hp2 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-4066G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526461 | |||||||
| chr17:17526613 | G | A | 189 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(186): Show |
206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.205-4218C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526613 | |||||||
| chr17:17526771 | T | A | 22 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(19): Show |
24 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(21): Show |
intron_variant | MODIFIER | c.205-4376A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526771 | |||||||
| chr17:17526958 | C | G | 1 | a0002c0002t0001g0167 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.205-4563G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526958 | |||||||
| chr17:17527059 | C | T | 22 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(19): Show |
24 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(21): Show |
intron_variant | MODIFIER | c.205-4664G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527059 | |||||||
| chr17:17527098 | C | T | 6 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 others(3): Show |
6 | HG02451.hp2 HG02559.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.205-4703G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527098 | |||||||
| chr17:17527162 | C | T | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.205-4767G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527162 | |||||||
| chr17:17527199 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG02257.hp2 HG02258.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-4804C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527199 | |||||||
| chr17:17527279 | C | T | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-4884G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527279 | |||||||
| chr17:17527280 | G | A | 11 | a0001c0001t0001g0085 a0001c0001t0001g0122 a0001c0001t0001g0203 others(8): Show |
11 | HG00741.hp2 HG01109.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.205-4885C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527280 | |||||||
| chr17:17527300 | G | C | 54 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(51): Show |
57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-4905C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527300 | |||||||
| chr17:17527335 | T | C | 206 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(203): Show |
225 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show |
intron_variant | MODIFIER | c.205-4940A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527335 | |||||||
| chr17:17527346 | T | A | 1 | a0001c0001t0001g0173 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.205-4951A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527346 | |||||||
| chr17:17527441 | G | A | 2 | a0001c0001t0001g0149 a0002c0002t0001g0140 |
2 | HG02965.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.205-5046C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527441 | |||||||
| chr17:17527453 | G | A | 52 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0046 others(49): Show |
54 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.205-5058C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527453 | |||||||
| chr17:17527494 | T | C | 1 | a0002c0002t0001g0088 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.205-5099A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527494 | |||||||
| chr17:17527577 | A | AC | 88 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0032 others(85): Show |
91 | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.205-5183dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527577 | |||||||
| chr17:17527742 | C | T | 29 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0153 others(26): Show |
29 | HG00408.hp2 HG00544.hp2 HG01978.hp1 others(26): Show |
intron_variant | MODIFIER | c.205-5347G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527742 | |||||||
| chr17:17527782 | C | T | 1 | a0001c0001t0001g0317 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.205-5387G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527782 | |||||||
| chr17:17527786 | G | A | 2 | a0001c0001t0001g0039 a0001c0001t0001g0319 |
2 | NA19064.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.205-5391C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527786 | |||||||
| chr17:17527787 | G | A | 2 | a0001c0001t0001g0039 a0001c0001t0001g0319 |
2 | NA19064.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.205-5392C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527787 | |||||||
| chr17:17527817 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 |
3 | HG02451.hp2 HG02615.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.205-5422T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527817 | |||||||
| chr17:17527818 | C | A | 5 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(2): Show |
5 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5423G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527818 | |||||||
| chr17:17527894 | C | A | 21 | a0001c0001t0001g0003 a0001c0001t0001g0092 a0001c0001t0001g0117 others(18): Show |
23 | HG00099.hp2 HG00639.hp1 HG01069.hp2 others(20): Show |
intron_variant | MODIFIER | c.205-5499G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527894 | |||||||
| chr17:17527912 | A | C | 5 | a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0299 others(2): Show |
5 | NA18949.hp1 NA18961.hp2 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5517T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527912 | |||||||
| chr17:17527978 | C | T | 1 | a0001c0001t0001g0218 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.205-5583G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527978 | |||||||
| chr17:17527987 | C | G | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-5592G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527987 | |||||||
| chr17:17528006 | A | G | 5 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0091 others(2): Show |
5 | HG02451.hp2 HG02559.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5611T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528006 | |||||||
| chr17:17528213 | C | T | 15 | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0105 others(12): Show |
16 | HG00438.hp2 HG00741.hp1 HG02083.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-5818G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528213 | |||||||
| chr17:17528218 | G | A | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.205-5823C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528218 | |||||||
| chr17:17528273 | G | T | 5 | a0001c0001t0001g0148 a0002c0002t0001g0196 a0002c0002t0001g0199 others(2): Show |
5 | HG02572.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5878C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528273 | |||||||
| chr17:17528357 | G | C | 55 | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 others(52): Show |
55 | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.205-5962C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528357 | |||||||
| chr17:17528412 | G | A | 1 | a0001c0001t0001g0293 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.205-6017C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528412 | |||||||
| chr17:17528541 | A | G | 2 | a0002c0002t0001g0128 a0002c0002t0001g0139 |
2 | HG00741.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.205-6146T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528541 | |||||||
| chr17:17528622 | C | T | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.205-6227G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528622 | |||||||
| chr17:17528671 | T | A | 1 | a0001c0001t0001g0276 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.205-6276A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528671 | |||||||
| chr17:17528784 | T | C | 203 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(200): Show |
220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.205-6389A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528784 | |||||||
| chr17:17528785 | G | A | 1 | a0002c0002t0001g0229 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.205-6390C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528785 | |||||||
| chr17:17528906 | G | A | 26 | a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0093 others(23): Show |
26 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(23): Show |
intron_variant | MODIFIER | c.205-6511C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528906 | |||||||
| chr17:17528961 | T | C | 21 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(18): Show |
21 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-6566A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528961 | |||||||
| chr17:17529021 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-6626G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529021 | |||||||
| chr17:17529142 | C | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-6747G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529142 | |||||||
| chr17:17529230 | C | T | 1 | a0004c0005t0001g0052 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.205-6835G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529230 | |||||||
| chr17:17529277 | C | T | 3 | a0002c0002t0001g0088 a0002c0002t0001g0132 a0002c0002t0001g0145 |
3 | HG02258.hp2 HG02572.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.205-6882G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529277 | |||||||
| chr17:17529429 | C | T | 8 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0172 others(5): Show |
9 | HG02055.hp2 HG02886.hp1 HG03017.hp2 others(6): Show |
intron_variant | MODIFIER | c.205-7034G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529429 | |||||||
| chr17:17529430 | G | A | 114 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(111): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-7035C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529430 | |||||||
| chr17:17529460 | A | T | 1 | a0001c0001t0001g0170 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.205-7065T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529460 | |||||||
| chr17:17529605 | G | A | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-7210C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529605 | |||||||
| chr17:17529648 | G | T | 2 | a0001c0001t0001g0024 a0001c0001t0001g0182 |
2 | NA18946.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.205-7253C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529648 | |||||||
| chr17:17529901 | A | T | 21 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(18): Show |
21 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-7506T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529901 | |||||||
| chr17:17530188 | G | A | 1 | a0001c0001t0001g0151 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.205-7793C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530188 | |||||||
| chr17:17530277 | C | G | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-7882G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530277 | |||||||
| chr17:17530332 | C | T | 1 | a0002c0002t0001g0150 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.205-7937G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530332 | |||||||
| chr17:17530427 | G | A | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-8032C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530427 | |||||||
| chr17:17530462 | T | C | 1 | a0001c0001t0001g0301 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.205-8067A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530462 | |||||||
| chr17:17530463 | C | T | 114 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(111): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-8068G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530463 | |||||||
| chr17:17530568 | T | A | 2 | a0005c0006t0001g0015 a0005c0006t0001g0016 |
2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.205-8173A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530568 | |||||||
| chr17:17530623 | C | T | 8 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0172 others(5): Show |
9 | HG02055.hp2 HG02886.hp1 HG03017.hp2 others(6): Show |
intron_variant | MODIFIER | c.205-8228G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530623 | |||||||
| chr17:17530645 | A | C | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8250T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530645 | |||||||
| chr17:17530775 | A | G | 1 | a0001c0001t0001g0011 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.205-8380T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530775 | |||||||
| chr17:17530787 | C | T | 1 | a0001c0001t0001g0307 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.205-8392G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530787 | |||||||
| chr17:17530827 | G | A | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8432C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530827 | |||||||
| chr17:17530900 | G | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8505C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530900 | |||||||
| chr17:17530904 | G | A | 78 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(75): Show |
91 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.205-8509C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530904 | |||||||
| chr17:17531038 | G | A | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8643C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531038 | |||||||
| chr17:17531042 | C | CA | 21 | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0083 others(18): Show |
21 | HG01109.hp2 HG01175.hp1 HG01433.hp2 others(18): Show |
intron_variant | MODIFIER | c.205-8648dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531042 | |||||||
| chr17:17531042 | CA | C | 37 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0103 others(34): Show |
38 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.205-8648delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531042 | |||||||
| chr17:17531229 | C | T | 1 | a0001c0001t0001g0323 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.205-8834G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531229 | |||||||
| chr17:17531336 | GT | G | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8942delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531336 | |||||||
| chr17:17531566 | G | A | 2 | a0001c0001t0001g0091 a0001c0001t0001g0171 |
2 | HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.205-9171C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531566 | |||||||
| chr17:17531621 | C | CA | 13 | a0001c0001t0001g0009 a0001c0001t0001g0170 a0001c0001t0001g0183 others(10): Show |
13 | HG00280.hp1 HG01175.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-9227dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | |||||||
| chr17:17531621 | CA | C | 13 | a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0085 others(10): Show |
13 | HG01109.hp1 HG01358.hp1 HG01517.hp2 others(10): Show |
intron_variant | MODIFIER | c.205-9227delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | |||||||
| chr17:17531621 | CAA | C | 92 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(89): Show |
103 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.205-9228_205-9227d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | |||||||
| chr17:17531621 | CAAA | C | 39 | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0073 others(36): Show |
39 | HG00544.hp2 HG00673.hp2 HG01099.hp1 others(36): Show |
intron_variant | MODIFIER | c.205-9229_205-9227d others(5): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | |||||||
| chr17:17531621 | CAAAAA | C | 47 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(44): Show |
50 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.205-9231_205-9227d others(7): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | |||||||
| chr17:17531696 | A | T | 21 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(18): Show |
21 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-9301T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531696 | |||||||
| chr17:17531737 | A | T | 2 | a0001c0001t0001g0059 a0001c0001t0001g0067 |
2 | HG02698.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.205-9342T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531737 | |||||||
| chr17:17531739 | C | T | 1 | a0002c0002t0001g0146 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.205-9344G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531739 | |||||||
| chr17:17531757 | C | T | 63 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(60): Show |
74 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.205-9362G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531757 | |||||||
| chr17:17531804 | T | C | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-9409A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531804 | |||||||
| chr17:17531865 | G | C | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-9470C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531865 | |||||||
| chr17:17532397 | G | T | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-10002C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532397 | |||||||
| chr17:17532601 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-10206C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532601 | |||||||
| chr17:17532717 | A | T | 5 | a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0173 others(2): Show |
5 | HG02572.hp2 HG02818.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-10322T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532717 | |||||||
| chr17:17532798 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.205-10403G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532798 | |||||||
| chr17:17532821 | A | T | 1 | a0003c0003t0001g0147 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.205-10426T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532821 | |||||||
| chr17:17532849 | G | A | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.205-10454C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532849 | |||||||
| chr17:17532987 | A | G | 1 | a0001c0001t0001g0183 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.205-10592T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532987 | |||||||
| chr17:17533137 | C | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-10742G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533137 | |||||||
| chr17:17533394 | T | C | 29 | a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0093 others(26): Show |
29 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(26): Show |
intron_variant | MODIFIER | c.205-10999A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533394 | |||||||
| chr17:17533587 | AG | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-11193delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533587 | |||||||
| chr17:17533734 | CT | C | 182 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(179): Show |
198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.205-11340delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533734 | |||||||
| chr17:17533736 | T | C | 1 | a0001c0001t0001g0284 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.205-11341A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533736 | |||||||
| chr17:17533780 | G | T | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.205-11385C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533780 | |||||||
| chr17:17533983 | C | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-11588G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533983 | |||||||
| chr17:17534106 | G | A | 2 | a0001c0001t0001g0322 a0001c0001t0001g0323 |
2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.205-11711C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534106 | |||||||
| chr17:17534128 | G | A | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-11733C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534128 | |||||||
| chr17:17534667 | A | G | 1 | a0001c0001t0001g0076 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.205-12272T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534667 | |||||||
| chr17:17534717 | C | T | 194 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(191): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.205-12322G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534717 | |||||||
| chr17:17534771 | T | C | 194 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(191): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.205-12376A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534771 | |||||||
| chr17:17534804 | C | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-12409G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534804 | |||||||
| chr17:17534823 | T | C | 21 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(18): Show |
21 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-12428A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534823 | |||||||
| chr17:17534895 | C | CTATTT | 4 | a0002c0002t0001g0124 a0002c0002t0001g0140 a0002c0009t0001g0302 others(1): Show |
4 | HG01243.hp1 HG03239.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-12505_205-1250 others(9): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | |||||||
| chr17:17534895 | C | CTATTTTA others(3): Show |
1 | a0001c0001t0001g0277 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.205-12510_205-1250 others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | |||||||
| chr17:17534895 | CTATTT | C | 82 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(79): Show |
95 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.205-12505_205-1250 others(9): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | |||||||
| chr17:17534895 | CTATTTTA others(3): Show |
C | 36 | a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0093 others(33): Show |
36 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.205-12510_205-1250 others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | |||||||
| chr17:17534895 | CTATTTTA others(8): Show |
C | 22 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(19): Show |
22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-12515_205-1250 others(19): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | |||||||
| chr17:17535004 | G | A | 136 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(133): Show |
149 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(146): Show |
intron_variant | MODIFIER | c.205-12609C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535004 | |||||||
| chr17:17535084 | T | C | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-12689A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535084 | |||||||
| chr17:17535198 | C | T | 6 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 others(3): Show |
6 | HG01358.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.205-12803G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535198 | |||||||
| chr17:17535374 | T | C | 5 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 others(2): Show |
5 | HG01358.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-12979A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535374 | |||||||
| chr17:17535567 | GA | G | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-13173delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535567 | |||||||
| chr17:17535567 | GAA | G | 134 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(131): Show |
147 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(144): Show |
intron_variant | MODIFIER | c.205-13174_205-1317 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535567 | |||||||
| chr17:17535713 | G | A | 1 | a0001c0001t0001g0324 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.205-13318C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535713 | |||||||
| chr17:17535937 | C | T | 2 | a0001c0001t0001g0225 a0001c0001t0001g0226 |
2 | HG02523.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.205-13542G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535937 | |||||||
| chr17:17535962 | T | A | 1 | a0001c0001t0001g0290 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.205-13567A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535962 | |||||||
| chr17:17535963 | C | A | 1 | a0001c0001t0001g0290 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.205-13568G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535963 | |||||||
| chr17:17536003 | C | T | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.205-13608G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536003 | |||||||
| chr17:17536024 | G | A | 5 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0263 others(2): Show |
5 | HG01109.hp2 HG01256.hp1 HG01257.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-13629C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536024 | |||||||
| chr17:17536144 | C | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-13749G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536144 | |||||||
| chr17:17536351 | A | G | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.205-13956T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536351 | |||||||
| chr17:17536479 | C | T | 114 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(111): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-14084G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536479 | |||||||
| chr17:17536481 | G | A | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-14086C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536481 | |||||||
| chr17:17536573 | C | T | 1 | a0003c0003t0001g0138 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.205-14178G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536573 | |||||||
| chr17:17536574 | G | A | 2 | a0003c0003t0001g0070 a0004c0005t0001g0033 |
2 | HG02698.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.205-14179C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536574 | |||||||
| chr17:17536792 | C | T | 1 | a0001c0001t0001g0184 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.205-14397G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536792 | |||||||
| chr17:17536877 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.205-14482C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536877 | |||||||
| chr17:17537202 | G | A | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-14807C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537202 | |||||||
| chr17:17537230 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-14835C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537230 | |||||||
| chr17:17537281 | A | C | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-14886T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537281 | |||||||
| chr17:17537446 | C | T | 1 | a0002c0002t0001g0128 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.205-15051G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537446 | |||||||
| chr17:17537496 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.205-15101G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537496 | |||||||
| chr17:17537509 | C | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-15114G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537509 | |||||||
| chr17:17537515 | G | A | 2 | a0001c0001t0001g0006 a0002c0002t0001g0150 |
3 | HG02257.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.205-15120C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537515 | |||||||
| chr17:17537601 | G | T | 10 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0172 others(7): Show |
11 | HG02055.hp2 HG02886.hp1 HG02896.hp2 others(8): Show |
intron_variant | MODIFIER | c.205-15206C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537601 | |||||||
| chr17:17537777 | G | A | 5 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 others(2): Show |
5 | NA18942.hp1 NA18952.hp1 NA18973.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-15382C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537777 | |||||||
| chr17:17538045 | C | A | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-15650G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538045 | |||||||
| chr17:17538055 | C | G | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-15660G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538055 | |||||||
| chr17:17538380 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-15985G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538380 | |||||||
| chr17:17538527 | C | G | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.205-16132G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538527 | |||||||
| chr17:17538563 | GA | G | 134 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(131): Show |
147 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(144): Show |
intron_variant | MODIFIER | c.205-16169delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538563 | |||||||
| chr17:17538806 | G | C | 17 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0120 others(14): Show |
18 | HG01433.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.205-16411C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538806 | |||||||
| chr17:17539056 | C | G | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.205-16661G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539056 | |||||||
| chr17:17539169 | T | C | 2 | a0003c0004t0001g0056 a0003c0004t0001g0057 |
2 | HG01192.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.205-16774A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539169 | |||||||
| chr17:17539776 | A | G | 196 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(193): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.205-17381T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539776 | |||||||
| chr17:17539999 | G | C | 1 | a0002c0002t0001g0116 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.205-17604C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539999 | |||||||
| chr17:17540084 | A | C | 2 | a0002c0002t0001g0157 a0002c0002t0001g0167 |
2 | HG00544.hp2 HG02040.hp1 |
intron_variant | MODIFIER | c.205-17689T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540084 | |||||||
| chr17:17540091 | G | A | 2 | a0001c0001t0001g0298 a0002c0009t0001g0302 |
2 | NA18941.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.205-17696C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540091 | |||||||
| chr17:17540218 | C | T | 1 | a0003c0003t0001g0043 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.205-17823G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540218 | |||||||
| chr17:17540261 | C | A | 1 | a0001c0001t0001g0121 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.205-17866G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540261 | |||||||
| chr17:17540286 | C | T | 1 | a0002c0002t0001g0150 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.205-17891G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540286 | |||||||
| chr17:17540385 | C | T | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-17990G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540385 | |||||||
| chr17:17540438 | A | G | 5 | a0002c0002t0001g0227 a0002c0002t0001g0245 a0002c0002t0001g0246 others(2): Show |
5 | HG01081.hp2 HG01123.hp2 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-18043T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540438 | |||||||
| chr17:17540471 | G | A | 5 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show |
5 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-18076C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540471 | |||||||
| chr17:17540570 | G | A | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.205-18175C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540570 | |||||||
| chr17:17540776 | C | T | 2 | a0001c0001t0001g0091 a0001c0001t0001g0171 |
2 | HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.205-18381G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540776 | |||||||
| chr17:17540789 | G | A | 1 | a0001c0001t0001g0254 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.205-18394C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540789 | |||||||
| chr17:17540962 | T | C | 5 | a0001c0001t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0127 others(2): Show |
5 | HG01070.hp2 HG02630.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-18567A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540962 | |||||||
| chr17:17540963 | T | G | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-18568A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540963 | |||||||
| chr17:17541009 | C | T | 1 | a0001c0001t0001g0082 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.205-18614G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541009 | |||||||
| chr17:17541035 | C | A | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-18640G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541035 | |||||||
| chr17:17541052 | A | G | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-18657T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541052 | |||||||
| chr17:17541055 | G | A | 114 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(111): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-18660C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541055 | |||||||
| chr17:17541188 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-18793C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541188 | |||||||
| chr17:17541270 | G | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-18875C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541270 | |||||||
| chr17:17541324 | C | T | 21 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(18): Show |
21 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-18929G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541324 | |||||||
| chr17:17541411 | G | C | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-19016C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541411 | |||||||
| chr17:17541424 | G | C | 1 | a0003c0004t0001g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.205-19029C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541424 | |||||||
| chr17:17541471 | C | T | 1 | a0002c0012t0001g0294 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.205-19076G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541471 | |||||||
| chr17:17541476 | G | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(49): Show |
55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-19081C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541476 | |||||||
| chr17:17541560 | G | A | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19165C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541560 | |||||||
| chr17:17541985 | C | A | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-19590G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541985 | |||||||
| chr17:17542223 | T | C | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19828A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542223 | |||||||
| chr17:17542224 | A | G | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19829T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542224 | |||||||
| chr17:17542227 | C | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19832G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542227 | |||||||
| chr17:17542232 | C | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19837G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542232 | |||||||
| chr17:17542233 | A | G | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19838T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542233 | |||||||
| chr17:17542237 | TC | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19843delG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542237 | |||||||
| chr17:17542245 | A | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19850T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542245 | |||||||
| chr17:17542272 | C | T | 1 | a0001c0001t0001g0304 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.205-19877G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542272 | |||||||
| chr17:17542308 | C | T | 1 | a0002c0002t0001g0234 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.205-19913G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542308 | |||||||
| chr17:17542344 | G | T | 2 | a0001c0001t0001g0039 a0001c0001t0001g0047 |
2 | HG03831.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.205-19949C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542344 | |||||||
| chr17:17542366 | G | T | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(134): Show |
150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-19971C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542366 | |||||||
| chr17:17542776 | G | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.205-20381C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542776 | |||||||
| chr17:17542789 | T | C | 196 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(193): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.205-20394A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542789 | |||||||
| chr17:17542908 | C | T | 2 | a0002c0002t0001g0242 a0002c0002t0001g0244 |
2 | HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.205-20513G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542908 | |||||||
| chr17:17542940 | G | A | 1 | a0001c0001t0001g0039 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.205-20545C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542940 | |||||||
| chr17:17543008 | G | A | 2 | a0004c0005t0001g0201 a0004c0005t0001g0202 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.205-20613C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543008 | |||||||
| chr17:17543118 | G | A | 1 | a0001c0001t0001g0241 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.205-20723C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543118 | |||||||
| chr17:17543170 | G | A | 6 | a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0161 others(3): Show |
6 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.205-20775C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543170 | |||||||
| chr17:17543313 | C | T | 1 | a0002c0002t0001g0233 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.205-20918G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543313 | |||||||
| chr17:17543452 | C | T | 1 | a0001c0001t0001g0113 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.205-21057G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543452 | |||||||
| chr17:17543626 | G | A | 54 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0102 others(51): Show |
58 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.205-21231C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543626 | |||||||
| chr17:17543824 | G | A | 176 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(173): Show |
193 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
intron_variant | MODIFIER | c.205-21429C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543824 | |||||||
| chr17:17544064 | T | C | 2 | a0002c0002t0001g0123 a0002c0002t0001g0131 |
2 | HG00099.hp2 HG00639.hp1 |
intron_variant | MODIFIER | c.205-21669A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544064 | |||||||
| chr17:17544236 | C | T | 2 | a0002c0002t0001g0223 a0002c0002t0001g0224 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.205-21841G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544236 | |||||||
| chr17:17544284 | CT | C | 51 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(48): Show |
54 | HG00140.hp2 HG00280.hp1 HG01069.hp2 others(51): Show |
intron_variant | MODIFIER | c.205-21890delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544284 | |||||||
| chr17:17544545 | G | T | 191 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
207 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
intron_variant | MODIFIER | c.205-22150C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544545 | |||||||
| chr17:17544848 | G | T | 1 | a0001c0001t0001g0270 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.205-22453C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544848 | |||||||
| chr17:17545000 | C | T | 1 | a0002c0002t0001g0311 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.205-22605G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545000 | |||||||
| chr17:17545001 | G | A | 4 | a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(1): Show |
4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-22606C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545001 | |||||||
| chr17:17545265 | C | T | 1 | a0002c0002t0001g0132 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.205-22870G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545265 | |||||||
| chr17:17545275 | C | T | 16 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(13): Show |
16 | HG00099.hp1 HG00423.hp2 HG01952.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-22880G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545275 | |||||||
| chr17:17545280 | C | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.205-22885G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545280 | |||||||
| chr17:17545296 | C | A | 12 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0080 others(9): Show |
13 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.205-22901G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545296 | |||||||
| chr17:17545377 | A | G | 119 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(116): Show |
132 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.205-22982T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545377 | |||||||
| chr17:17545428 | G | T | 22 | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0148 others(19): Show |
22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-23033C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545428 | |||||||
| chr17:17545581 | A | T | 5 | a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0165 others(2): Show |
5 | NA18946.hp1 NA18950.hp1 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-23186T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545581 | |||||||
| chr17:17545715 | T | C | 1 | a0003c0003t0001g0004 | 2 | HG00323.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.205-23320A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545715 | |||||||
| chr17:17545820 | T | G | 31 | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0073 others(28): Show |
32 | HG00544.hp2 HG01099.hp1 HG01884.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-23425A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545820 | |||||||
| chr17:17546073 | T | C | 1 | a0003c0003t0001g0049 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.205-23678A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546073 | |||||||
| chr17:17546186 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-23791C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546186 | |||||||
| chr17:17546238 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-23843T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546238 | |||||||
| chr17:17546271 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-23876G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546271 | |||||||
| chr17:17546603 | G | T | 10 | a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 others(7): Show |
10 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.205-24208C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546603 | |||||||
| chr17:17546879 | C | T | 3 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0005c0006t0002g0014 |
3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.205-24484G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546879 | |||||||
| chr17:17547000 | G | A | 2 | a0001c0001t0001g0225 a0001c0001t0001g0226 |
2 | HG02523.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.205-24605C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547000 | |||||||
| chr17:17547005 | C | T | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.205-24610G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547005 | |||||||
| chr17:17547426 | C | T | 5 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 others(2): Show |
5 | HG01358.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-25031G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547426 | |||||||
| chr17:17547657 | CTCCTCCT others(20): Show |
C | 6 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 others(3): Show |
6 | HG00423.hp2 NA18612.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.205-25289_205-2526 others(31): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547657 | |||||||
| chr17:17547687 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-25292G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547687 | |||||||
| chr17:17548073 | C | G | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.205-25678G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548073 | |||||||
| chr17:17548488 | A | G | 1 | a0002c0002t0001g0196 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.205-26093T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548488 | |||||||
| chr17:17548534 | G | A | 1 | a0001c0001t0001g0218 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.205-26139C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548534 | |||||||
| chr17:17548534 | G | C | 1 | a0004c0005t0001g0052 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.205-26139C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548534 | |||||||
| chr17:17548592 | A | G | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.205-26197T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548592 | |||||||
| chr17:17548611 | C | T | 1 | a0001c0001t0001g0113 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.205-26216G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548611 | |||||||
| chr17:17548699 | C | A | 1 | a0001c0001t0001g0047 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.205-26304G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548699 | |||||||
| chr17:17549178 | A | C | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-26783T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549178 | |||||||
| chr17:17549198 | G | A | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(132): Show |
148 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(145): Show |
intron_variant | MODIFIER | c.205-26803C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549198 | |||||||
| chr17:17549317 | G | A | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.205-26922C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549317 | |||||||
| chr17:17549451 | G | A | 1 | a0002c0002t0001g0150 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.205-27056C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549451 | |||||||
| chr17:17549498 | G | A | 1 | a0003c0004t0001g0057 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.205-27103C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549498 | |||||||
| chr17:17549753 | C | T | 114 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(111): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.204+27167G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549753 | |||||||
| chr17:17549818 | G | A | 1 | a0002c0002t0001g0230 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.204+27102C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549818 | |||||||
| chr17:17549858 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.204+27062C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549858 | |||||||
| chr17:17549958 | G | C | 1 | a0001c0001t0001g0153 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.204+26962C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549958 | |||||||
| chr17:17550039 | G | A | 1 | a0002c0002t0001g0228 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.204+26881C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550039 | |||||||
| chr17:17550068 | T | G | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+26852A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550068 | |||||||
| chr17:17550175 | C | A | 1 | a0003c0003t0001g0215 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.204+26745G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550175 | |||||||
| chr17:17550183 | C | T | 6 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 others(3): Show |
6 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(3): Show |
intron_variant | MODIFIER | c.204+26737G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550183 | |||||||
| chr17:17550213 | G | A | 1 | a0002c0002t0001g0238 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.204+26707C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550213 | |||||||
| chr17:17550225 | C | G | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+26695G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550225 | |||||||
| chr17:17550420 | G | A | 1 | a0002c0002t0001g0271 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.204+26500C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550420 | |||||||
| chr17:17550615 | T | C | 10 | a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 others(7): Show |
14 | HG00408.hp2 HG01978.hp1 HG02015.hp1 others(11): Show |
intron_variant | MODIFIER | c.204+26305A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550615 | |||||||
| chr17:17550674 | C | T | 25 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(22): Show |
25 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(22): Show |
intron_variant | MODIFIER | c.204+26246G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550674 | |||||||
| chr17:17550777 | G | C | 1 | a0002c0002t0001g0315 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.204+26143C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550777 | |||||||
| chr17:17550878 | A | G | 5 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0274 others(2): Show |
5 | HG01106.hp1 HG01257.hp1 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+26042T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550878 | |||||||
| chr17:17551166 | A | G | 1 | a0002c0002t0001g0229 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.204+25754T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551166 | |||||||
| chr17:17551314 | C | T | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+25606G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551314 | |||||||
| chr17:17551451 | G | T | 21 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(18): Show |
23 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.204+25469C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551451 | |||||||
| chr17:17551495 | C | T | 1 | a0001c0001t0001g0148 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.204+25425G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551495 | |||||||
| chr17:17551569 | C | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+25351G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551569 | |||||||
| chr17:17551582 | C | G | 14 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0080 others(11): Show |
15 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+25338G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551582 | |||||||
| chr17:17551623 | G | T | 1 | a0001c0001t0001g0032 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.204+25297C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551623 | |||||||
| chr17:17551717 | T | C | 5 | a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0193 others(2): Show |
5 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+25203A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551717 | |||||||
| chr17:17551724 | G | C | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+25196C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551724 | |||||||
| chr17:17551736 | C | T | 4 | a0001c0001t0001g0308 a0001c0001t0001g0310 a0002c0002t0001g0309 others(1): Show |
4 | HG01255.hp2 HG01358.hp2 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+25184G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551736 | |||||||
| chr17:17551863 | G | A | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.204+25057C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551863 | |||||||
| chr17:17551878 | G | A | 79 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0093 others(76): Show |
83 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(80): Show |
intron_variant | MODIFIER | c.204+25042C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551878 | |||||||
| chr17:17551882 | C | T | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+25038G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551882 | |||||||
| chr17:17552030 | C | T | 1 | a0001c0001t0001g0153 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.204+24890G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552030 | |||||||
| chr17:17552060 | G | C | 14 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0080 others(11): Show |
15 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+24860C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552060 | |||||||
| chr17:17552119 | T | G | 1 | a0003c0004t0001g0112 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.204+24801A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552119 | |||||||
| chr17:17552150 | A | G | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+24770T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552150 | |||||||
| chr17:17552155 | T | C | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+24765A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552155 | |||||||
| chr17:17552290 | C | A | 1 | a0001c0001t0001g0087 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.204+24630G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552290 | |||||||
| chr17:17552321 | A | G | 1 | a0001c0001t0001g0254 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.204+24599T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552321 | |||||||
| chr17:17552375 | G | C | 1 | a0001c0001t0001g0039 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.204+24545C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552375 | |||||||
| chr17:17552404 | C | T | 1 | a0005c0006t0001g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.204+24516G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552404 | |||||||
| chr17:17552413 | T | G | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+24507A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552413 | |||||||
| chr17:17552417 | C | A | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.204+24503G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552417 | |||||||
| chr17:17552464 | A | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+24456T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552464 | |||||||
| chr17:17552557 | T | G | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+24363A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552557 | |||||||
| chr17:17552601 | G | A | 9 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0001c0001t0003g0013 others(6): Show |
9 | HG01891.hp1 HG02055.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+24319C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552601 | |||||||
| chr17:17552654 | C | T | 1 | a0001c0001t0001g0103 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.204+24266G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552654 | |||||||
| chr17:17552742 | G | A | 1 | a0001c0001t0001g0263 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.204+24178C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552742 | |||||||
| chr17:17552792 | T | C | 1 | a0001c0001t0001g0248 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.204+24128A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552792 | |||||||
| chr17:17552826 | C | A | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+24094G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552826 | |||||||
| chr17:17552862 | G | A | 3 | a0003c0003t0001g0030 a0003c0003t0001g0048 a0003c0003t0001g0071 |
3 | HG00280.hp2 HG01255.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.204+24058C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552862 | |||||||
| chr17:17552976 | C | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+23944G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552976 | |||||||
| chr17:17553120 | G | T | 1 | a0002c0002t0001g0309 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.204+23800C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553120 | |||||||
| chr17:17553170 | C | T | 2 | a0001c0001t0001g0006 a0002c0002t0001g0150 |
3 | HG02257.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+23750G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553170 | |||||||
| chr17:17553215 | A | G | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.204+23705T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553215 | |||||||
| chr17:17553290 | G | A | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+23630C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553290 | |||||||
| chr17:17553329 | G | A | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+23591C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553329 | |||||||
| chr17:17553341 | C | T | 1 | a0002c0002t0001g0131 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.204+23579G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553341 | |||||||
| chr17:17553432 | G | A | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+23488C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553432 | |||||||
| chr17:17553471 | C | T | 11 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0001c0001t0003g0013 others(8): Show |
11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+23449G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553471 | |||||||
| chr17:17553650 | T | A | 2 | a0002c0002t0001g0128 a0002c0002t0001g0139 |
2 | HG00741.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.204+23270A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553650 | |||||||
| chr17:17553664 | G | A | 1 | a0004c0005t0001g0205 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.204+23256C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553664 | |||||||
| chr17:17553814 | C | T | 2 | a0001c0001t0001g0006 a0002c0002t0001g0150 |
3 | HG02257.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+23106G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553814 | |||||||
| chr17:17553885 | G | A | 1 | a0001c0001t0001g0105 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.204+23035C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553885 | |||||||
| chr17:17553904 | G | A | 11 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0001c0001t0003g0013 others(8): Show |
11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+23016C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553904 | |||||||
| chr17:17553907 | C | T | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+23013G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553907 | |||||||
| chr17:17553913 | C | G | 32 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(29): Show |
34 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
intron_variant | MODIFIER | c.204+23007G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553913 | |||||||
| chr17:17554139 | G | A | 1 | a0001c0001t0001g0067 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.204+22781C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554139 | |||||||
| chr17:17554154 | CTGTTTCT others(15): Show |
C | 1 | a0001c0001t0001g0113 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.204+22744_204+2276 others(26): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554154 | |||||||
| chr17:17554219 | G | A | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+22701C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554219 | |||||||
| chr17:17554260 | G | A | 1 | a0005c0006t0001g0016 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.204+22660C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554260 | |||||||
| chr17:17554301 | T | G | 3 | a0001c0001t0001g0284 a0001c0001t0001g0306 a0002c0002t0001g0291 |
3 | NA18952.hp1 NA18997.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.204+22619A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554301 | |||||||
| chr17:17554326 | G | T | 1 | a0002c0002t0001g0116 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.204+22594C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554326 | |||||||
| chr17:17554348 | C | T | 8 | a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0081 others(5): Show |
9 | HG01109.hp1 HG02451.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+22572G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554348 | |||||||
| chr17:17554354 | T | A | 11 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0001c0001t0003g0013 others(8): Show |
11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+22566A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554354 | |||||||
| chr17:17554397 | C | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+22523G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554397 | |||||||
| chr17:17554440 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+22480T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554440 | |||||||
| chr17:17554454 | G | A | 32 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(29): Show |
34 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
intron_variant | MODIFIER | c.204+22466C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554454 | |||||||
| chr17:17554540 | C | T | 2 | a0002c0002t0001g0007 a0002c0002t0001g0166 |
3 | HG01069.hp1 HG01071.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.204+22380G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554540 | |||||||
| chr17:17554546 | C | T | 1 | a0001c0001t0001g0262 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.204+22374G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554546 | |||||||
| chr17:17554569 | G | C | 1 | a0004c0005t0001g0052 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.204+22351C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554569 | |||||||
| chr17:17554600 | A | T | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.204+22320T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554600 | |||||||
| chr17:17554661 | GCT | G | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+22257_204+2225 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554661 | |||||||
| chr17:17554708 | C | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+22212G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554708 | |||||||
| chr17:17554709 | G | A | 7 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(4): Show |
9 | HG02280.hp2 HG02809.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+22211C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554709 | |||||||
| chr17:17554765 | G | A | 1 | a0002c0002t0001g0230 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.204+22155C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554765 | |||||||
| chr17:17554905 | C | T | 1 | a0001c0001t0001g0103 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.204+22015G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554905 | |||||||
| chr17:17554910 | C | T | 1 | a0003c0003t0001g0043 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.204+22010G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554910 | |||||||
| chr17:17554912 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+22008C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554912 | |||||||
| chr17:17554922 | T | A | 3 | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 |
3 | HG02895.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.204+21998A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554922 | |||||||
| chr17:17555039 | A | G | 53 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0117 others(50): Show |
57 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.204+21881T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555039 | |||||||
| chr17:17555214 | C | T | 2 | a0002c0002t0001g0230 a0002c0002t0001g0232 |
2 | HG01952.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.204+21706G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555214 | |||||||
| chr17:17555218 | G | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.204+21702C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555218 | |||||||
| chr17:17555321 | G | A | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+21599C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555321 | |||||||
| chr17:17555332 | G | A | 2 | a0001c0001t0001g0094 a0001c0001t0001g0099 |
2 | HG00423.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.204+21588C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555332 | |||||||
| chr17:17555340 | G | A | 2 | a0003c0003t0001g0038 a0003c0003t0001g0069 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.204+21580C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555340 | |||||||
| chr17:17555387 | C | A | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+21533G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555387 | |||||||
| chr17:17555389 | C | A | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+21531G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555389 | |||||||
| chr17:17555490 | A | G | 1 | a0001c0001t0001g0122 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.204+21430T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555490 | |||||||
| chr17:17555537 | C | G | 2 | a0002c0002t0001g0223 a0002c0002t0001g0224 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.204+21383G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555537 | |||||||
| chr17:17555651 | T | C | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+21269A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555651 | |||||||
| chr17:17555700 | A | T | 5 | a0001c0001t0001g0211 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | HG01192.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+21220T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555700 | |||||||
| chr17:17555721 | C | G | 190 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(187): Show |
207 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
intron_variant | MODIFIER | c.204+21199G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555721 | |||||||
| chr17:17555786 | G | C | 2 | a0001c0001t0001g0322 a0001c0001t0001g0323 |
2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.204+21134C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555786 | |||||||
| chr17:17555790 | C | T | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+21130G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555790 | |||||||
| chr17:17555818 | T | G | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.204+21102A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555818 | |||||||
| chr17:17556101 | G | A | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+20819C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556101 | |||||||
| chr17:17556108 | C | T | 1 | a0002c0002t0001g0243 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.204+20812G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556108 | |||||||
| chr17:17556185 | A | G | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+20735T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556185 | |||||||
| chr17:17556202 | C | T | 1 | a0002c0002t0001g0189 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.204+20718G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556202 | |||||||
| chr17:17556226 | C | G | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.204+20694G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556226 | |||||||
| chr17:17556306 | T | C | 45 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(42): Show |
47 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+20614A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556306 | |||||||
| chr17:17556340 | G | A | 190 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(187): Show |
207 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
intron_variant | MODIFIER | c.204+20580C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556340 | |||||||
| chr17:17556378 | CT | C | 201 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(198): Show |
218 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
intron_variant | MODIFIER | c.204+20541delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556378 | |||||||
| chr17:17556413 | G | A | 11 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0001c0001t0003g0013 others(8): Show |
11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+20507C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556413 | |||||||
| chr17:17556460 | G | A | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+20460C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556460 | |||||||
| chr17:17556499 | G | A | 1 | a0001c0001t0001g0292 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.204+20421C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556499 | |||||||
| chr17:17556866 | T | C | 201 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(198): Show |
218 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
intron_variant | MODIFIER | c.204+20054A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556866 | |||||||
| chr17:17557226 | C | T | 2 | a0001c0001t0001g0010 a0001c0001t0001g0231 |
3 | HG01070.hp1 HG01071.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.204+19694G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557226 | |||||||
| chr17:17557229 | C | T | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+19691G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557229 | |||||||
| chr17:17557360 | G | A | 64 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(61): Show |
75 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.204+19560C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557360 | |||||||
| chr17:17557478 | C | T | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+19442G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557478 | |||||||
| chr17:17557501 | C | T | 1 | a0006c0013t0001g0061 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.204+19419G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557501 | |||||||
| chr17:17557518 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.204+19402C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557518 | |||||||
| chr17:17557612 | T | C | 45 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(42): Show |
47 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+19308A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557612 | |||||||
| chr17:17557702 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+19218T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557702 | |||||||
| chr17:17557801 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+19119G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557801 | |||||||
| chr17:17557872 | G | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+19048C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557872 | |||||||
| chr17:17558041 | G | A | 1 | a0002c0002t0001g0140 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.204+18879C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558041 | |||||||
| chr17:17558121 | C | T | 6 | a0001c0001t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0127 others(3): Show |
6 | HG01070.hp2 HG02630.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.204+18799G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558121 | |||||||
| chr17:17558189 | A | AAC | 28 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(25): Show |
28 | HG00099.hp1 HG00423.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.204+18729_204+1873 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558189 | |||||||
| chr17:17558189 | A | AACAC | 13 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(10): Show |
13 | HG00673.hp2 HG01099.hp1 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.204+18727_204+1873 others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558189 | |||||||
| chr17:17558508 | CA | C | 175 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(172): Show |
192 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
intron_variant | MODIFIER | c.204+18411delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558508 | |||||||
| chr17:17558514 | A | C | 74 | a0001c0001t0001g0003 a0001c0001t0001g0073 a0001c0001t0001g0093 others(71): Show |
76 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(73): Show |
intron_variant | MODIFIER | c.204+18406T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558514 | |||||||
| chr17:17558681 | C | T | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+18239G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558681 | |||||||
| chr17:17558682 | G | A | 4 | a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 others(1): Show |
4 | HG02083.hp1 HG02451.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+18238C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | |||||||
| chr17:17558682 | G | GA | 78 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 others(75): Show |
83 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.204+18237dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | |||||||
| chr17:17558682 | G | GAA | 18 | a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0148 others(15): Show |
18 | HG01358.hp1 HG01891.hp1 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.204+18236_204+1823 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | |||||||
| chr17:17558682 | GA | G | 39 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0204 others(36): Show |
41 | HG00140.hp2 HG00280.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.204+18237delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | |||||||
| chr17:17558695 | A | C | 1 | a0003c0003t0001g0065 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.204+18225T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558695 | |||||||
| chr17:17558700 | C | A | 1 | a0002c0002t0001g0279 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.204+18220G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558700 | |||||||
| chr17:17558700 | CAAAA | C | 58 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(55): Show |
69 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(66): Show |
intron_variant | MODIFIER | c.204+18216_204+1821 others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558700 | |||||||
| chr17:17558704 | A | C | 6 | a0003c0003t0001g0025 a0003c0003t0001g0042 a0003c0003t0001g0044 others(3): Show |
6 | HG02145.hp2 HG04184.hp1 HG04228.hp2 others(3): Show |
intron_variant | MODIFIER | c.204+18216T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558704 | |||||||
| chr17:17558790 | T | C | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+18130A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558790 | |||||||
| chr17:17558790 | T | G | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+18130A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558790 | |||||||
| chr17:17558834 | G | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+18086C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558834 | |||||||
| chr17:17558835 | C | A | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+18085G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558835 | |||||||
| chr17:17558871 | G | C | 1 | a0001c0001t0001g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.204+18049C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558871 | |||||||
| chr17:17558875 | A | G | 1 | a0002c0002t0001g0327 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.204+18045T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558875 | |||||||
| chr17:17558895 | T | G | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+18025A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558895 | |||||||
| chr17:17558977 | C | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+17943G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558977 | |||||||
| chr17:17559072 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.204+17848G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559072 | |||||||
| chr17:17559192 | T | C | 45 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(42): Show |
47 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+17728A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559192 | |||||||
| chr17:17559259 | G | C | 3 | a0001c0001t0001g0222 a0001c0001t0001g0237 a0002c0002t0001g0238 |
3 | HG02015.hp2 HG03834.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.204+17661C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559259 | |||||||
| chr17:17559306 | G | A | 182 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(179): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.204+17614C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559306 | |||||||
| chr17:17559316 | C | G | 34 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(31): Show |
36 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.204+17604G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559316 | |||||||
| chr17:17559361 | G | A | 3 | a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 |
3 | NA18939.hp2 NA18959.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.204+17559C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559361 | |||||||
| chr17:17559378 | G | A | 14 | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0105 others(11): Show |
15 | HG00438.hp2 HG00741.hp1 HG02083.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+17542C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559378 | |||||||
| chr17:17559448 | C | T | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+17472G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559448 | |||||||
| chr17:17559463 | G | A | 6 | a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0089 others(3): Show |
6 | HG02559.hp2 HG02572.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.204+17457C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559463 | |||||||
| chr17:17559576 | G | A | 1 | a0001c0001t0001g0304 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.204+17344C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559576 | |||||||
| chr17:17559884 | G | A | 3 | a0001c0001t0001g0310 a0002c0002t0001g0309 a0008c0011t0001g0313 |
3 | HG01255.hp2 HG01928.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.204+17036C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559884 | |||||||
| chr17:17559886 | C | A | 11 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0001c0001t0003g0013 others(8): Show |
11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+17034G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559886 | |||||||
| chr17:17560020 | C | T | 2 | a0001c0001t0001g0059 a0001c0001t0001g0067 |
2 | HG02698.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.204+16900G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560020 | |||||||
| chr17:17560021 | A | G | 143 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(140): Show |
158 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
intron_variant | MODIFIER | c.204+16899T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560021 | |||||||
| chr17:17560050 | G | C | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+16870C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560050 | |||||||
| chr17:17560078 | T | C | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+16842A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560078 | |||||||
| chr17:17560105 | C | A | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+16815G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560105 | |||||||
| chr17:17560115 | T | G | 9 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 others(6): Show |
9 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+16805A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560115 | |||||||
| chr17:17560166 | G | C | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+16754C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560166 | |||||||
| chr17:17560470 | G | A | 21 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(18): Show |
23 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.204+16450C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560470 | |||||||
| chr17:17560485 | C | G | 198 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(195): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
intron_variant | MODIFIER | c.204+16435G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560485 | |||||||
| chr17:17560512 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+16408C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560512 | |||||||
| chr17:17560570 | G | A | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+16350C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560570 | |||||||
| chr17:17560716 | G | A | 2 | a0001c0001t0001g0159 a0001c0001t0001g0186 |
2 | HG01884.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.204+16204C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560716 | |||||||
| chr17:17560763 | A | G | 17 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0003c0003t0001g0001 others(14): Show |
24 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.204+16157T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560763 | |||||||
| chr17:17560822 | G | A | 1 | a0001c0001t0001g0181 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.204+16098C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560822 | |||||||
| chr17:17560864 | C | T | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.204+16056G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560864 | |||||||
| chr17:17560917 | C | T | 4 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0003c0003t0001g0031 others(1): Show |
4 | HG01106.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+16003G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560917 | |||||||
| chr17:17561072 | C | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+15848G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561072 | |||||||
| chr17:17561091 | A | C | 1 | a0002c0002t0001g0230 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.204+15829T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561091 | |||||||
| chr17:17561155 | G | A | 1 | a0001c0001t0001g0274 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.204+15765C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561155 | |||||||
| chr17:17561507 | C | T | 1 | a0001c0001t0001g0074 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.204+15413G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561507 | |||||||
| chr17:17561514 | G | A | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+15406C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561514 | |||||||
| chr17:17561528 | G | A | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.204+15392C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561528 | |||||||
| chr17:17561539 | C | T | 1 | a0001c0001t0001g0168 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.204+15381G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561539 | |||||||
| chr17:17561678 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+15242T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561678 | |||||||
| chr17:17561705 | C | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+15215G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561705 | |||||||
| chr17:17561874 | A | G | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+15046T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561874 | |||||||
| chr17:17561894 | C | G | 1 | a0003c0004t0001g0112 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.204+15026G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561894 | |||||||
| chr17:17561966 | C | T | 40 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0210 others(37): Show |
42 | HG00140.hp2 HG00280.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.204+14954G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561966 | |||||||
| chr17:17561998 | C | T | 5 | a0001c0001t0003g0013 a0005c0006t0001g0017 a0005c0006t0001g0018 others(2): Show |
5 | HG02258.hp1 HG02486.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+14922G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561998 | |||||||
| chr17:17562109 | T | G | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+14811A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562109 | |||||||
| chr17:17562144 | G | A | 108 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(105): Show |
121 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(118): Show |
intron_variant | MODIFIER | c.204+14776C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562144 | |||||||
| chr17:17562240 | C | T | 30 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(27): Show |
32 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.204+14680G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562240 | |||||||
| chr17:17562257 | A | G | 1 | a0004c0005t0001g0052 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.204+14663T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562257 | |||||||
| chr17:17562369 | G | A | 1 | a0001c0001t0001g0085 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.204+14551C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562369 | |||||||
| chr17:17562503 | G | A | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+14417C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562503 | |||||||
| chr17:17562651 | T | C | 2 | a0002c0002t0001g0196 a0002c0002t0001g0199 |
2 | HG02970.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.204+14269A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562651 | |||||||
| chr17:17562660 | T | G | 2 | a0001c0001t0001g0110 a0001c0001t0001g0111 |
2 | HG00673.hp2 NA18984.hp2 |
intron_variant | MODIFIER | c.204+14260A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562660 | |||||||
| chr17:17562684 | T | C | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+14236A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562684 | |||||||
| chr17:17562685 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+14235C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562685 | |||||||
| chr17:17562738 | G | A | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+14182C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562738 | |||||||
| chr17:17562833 | C | T | 1 | a0002c0002t0001g0124 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.204+14087G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562833 | |||||||
| chr17:17562880 | C | T | 1 | a0003c0003t0001g0049 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.204+14040G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562880 | |||||||
| chr17:17562954 | CA | C | 32 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(29): Show |
34 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
intron_variant | MODIFIER | c.204+13965delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562954 | |||||||
| chr17:17563100 | T | C | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+13820A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563100 | |||||||
| chr17:17563173 | T | C | 1 | a0003c0003t0001g0049 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.204+13747A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563173 | |||||||
| chr17:17563258 | C | A | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+13662G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563258 | |||||||
| chr17:17563423 | A | G | 58 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(55): Show |
60 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(57): Show |
intron_variant | MODIFIER | c.204+13497T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563423 | |||||||
| chr17:17563603 | G | A | 1 | a0002c0002t0001g0227 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.204+13317C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563603 | |||||||
| chr17:17563677 | A | G | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+13243T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563677 | |||||||
| chr17:17563697 | C | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+13223G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563697 | |||||||
| chr17:17563703 | T | C | 55 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(52): Show |
57 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(54): Show |
intron_variant | MODIFIER | c.204+13217A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563703 | |||||||
| chr17:17563730 | G | A | 1 | a0002c0002t0001g0026 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+13190C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563730 | |||||||
| chr17:17563740 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+13180G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563740 | |||||||
| chr17:17563783 | A | C | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.204+13137T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563783 | |||||||
| chr17:17563834 | C | A | 1 | a0001c0001t0001g0319 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.204+13086G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563834 | |||||||
| chr17:17563968 | G | C | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+12952C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563968 | |||||||
| chr17:17564043 | CT | C | 81 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(78): Show |
94 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.204+12876delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564043 | |||||||
| chr17:17564144 | C | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+12776G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564144 | |||||||
| chr17:17564166 | C | T | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+12754G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564166 | |||||||
| chr17:17564187 | G | A | 109 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(106): Show |
122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+12733C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564187 | |||||||
| chr17:17564194 | C | A | 1 | a0002c0012t0001g0294 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.204+12726G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564194 | |||||||
| chr17:17564195 | G | A | 1 | a0001c0001t0001g0287 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.204+12725C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564195 | |||||||
| chr17:17564312 | G | C | 1 | a0002c0002t0001g0327 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.204+12608C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564312 | |||||||
| chr17:17564373 | G | GC | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+12546dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564373 | |||||||
| chr17:17564469 | C | T | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+12451G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564469 | |||||||
| chr17:17564654 | C | T | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+12266G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564654 | |||||||
| chr17:17564717 | G | A | 1 | a0003c0004t0001g0112 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.204+12203C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564717 | |||||||
| chr17:17564827 | C | G | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+12093G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564827 | |||||||
| chr17:17565107 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.204+11813C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565107 | |||||||
| chr17:17565327 | C | G | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+11593G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565327 | |||||||
| chr17:17565550 | G | A | 1 | a0006c0013t0001g0061 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.204+11370C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565550 | |||||||
| chr17:17565568 | G | T | 5 | a0001c0001t0003g0013 a0005c0006t0001g0017 a0005c0006t0001g0018 others(2): Show |
5 | HG02258.hp1 HG02486.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+11352C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565568 | |||||||
| chr17:17565732 | C | T | 2 | a0001c0001t0001g0253 a0001c0001t0001g0258 |
2 | HG02886.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.204+11188G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565732 | |||||||
| chr17:17566005 | C | G | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+10915G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566005 | |||||||
| chr17:17566141 | C | T | 55 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(52): Show |
57 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(54): Show |
intron_variant | MODIFIER | c.204+10779G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566141 | |||||||
| chr17:17566162 | G | A | 1 | a0001c0001t0001g0266 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.204+10758C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566162 | |||||||
| chr17:17566185 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.204+10735C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566185 | |||||||
| chr17:17566604 | C | T | 21 | a0001c0001t0001g0122 a0002c0002t0001g0116 a0002c0002t0001g0119 others(18): Show |
21 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(18): Show |
intron_variant | MODIFIER | c.204+10316G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566604 | |||||||
| chr17:17566754 | G | C | 4 | a0001c0001t0001g0261 a0001c0001t0001g0262 a0002c0002t0001g0260 others(1): Show |
4 | HG01106.hp2 HG01496.hp1 HG01928.hp2 others(1): Show |
intron_variant | MODIFIER | c.204+10166C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566754 | |||||||
| chr17:17566790 | C | T | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+10130G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566790 | |||||||
| chr17:17566990 | C | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+9930G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566990 | |||||||
| chr17:17567058 | T | C | 3 | a0001c0001t0001g0222 a0001c0001t0001g0237 a0002c0002t0001g0238 |
3 | HG02015.hp2 HG03834.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.204+9862A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567058 | |||||||
| chr17:17567089 | G | C | 3 | a0001c0001t0001g0222 a0001c0001t0001g0237 a0002c0002t0001g0238 |
3 | HG02015.hp2 HG03834.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.204+9831C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567089 | |||||||
| chr17:17567185 | C | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+9735G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567185 | |||||||
| chr17:17567212 | C | T | 34 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(31): Show |
36 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.204+9708G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567212 | |||||||
| chr17:17567290 | C | T | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+9630G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567290 | |||||||
| chr17:17567295 | C | T | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+9625G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567295 | |||||||
| chr17:17567380 | A | C | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+9540T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567380 | |||||||
| chr17:17567394 | A | G | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+9526T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567394 | |||||||
| chr17:17567405 | T | C | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+9515A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567405 | |||||||
| chr17:17567586 | C | G | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+9334G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567586 | |||||||
| chr17:17567685 | G | C | 3 | a0001c0001t0002g0079 a0001c0001t0002g0312 a0005c0006t0002g0014 |
3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.204+9235C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567685 | |||||||
| chr17:17567830 | G | A | 5 | a0001c0001t0001g0211 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | HG01192.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+9090C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567830 | |||||||
| chr17:17567861 | G | A | 109 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(106): Show |
122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+9059C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567861 | |||||||
| chr17:17567888 | C | T | 2 | a0002c0002t0001g0155 a0002c0002t0001g0189 |
2 | HG03831.hp2 NA18973.hp2 |
intron_variant | MODIFIER | c.204+9032G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567888 | |||||||
| chr17:17567922 | C | A | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.204+8998G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567922 | |||||||
| chr17:17567970 | T | A | 1 | a0001c0001t0001g0118 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.204+8950A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567970 | |||||||
| chr17:17568059 | C | A | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+8861G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568059 | |||||||
| chr17:17568060 | T | TAC | 33 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(30): Show |
35 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(32): Show |
intron_variant | MODIFIER | c.204+8858_204+8859d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568060 | |||||||
| chr17:17568460 | C | T | 2 | a0002c0002t0001g0132 a0002c0002t0001g0146 |
2 | HG02258.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.204+8460G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568460 | |||||||
| chr17:17568607 | G | A | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+8313C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568607 | |||||||
| chr17:17568683 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+8237C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568683 | |||||||
| chr17:17568762 | G | A | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+8158C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568762 | |||||||
| chr17:17568861 | G | A | 1 | a0001c0001t0001g0055 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.204+8059C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568861 | |||||||
| chr17:17569133 | C | A | 5 | a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0089 others(2): Show |
5 | HG02559.hp2 HG02572.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+7787G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569133 | |||||||
| chr17:17569196 | C | G | 2 | a0001c0001t0001g0102 a0009c0010t0001g0195 |
2 | HG02738.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.204+7724G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569196 | |||||||
| chr17:17569204 | G | A | 1 | a0001c0001t0001g0204 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.204+7716C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569204 | |||||||
| chr17:17569224 | G | A | 1 | a0001c0001t0001g0149 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+7696C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569224 | |||||||
| chr17:17569255 | G | A | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+7665C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569255 | |||||||
| chr17:17569299 | T | C | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+7621A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569299 | |||||||
| chr17:17569462 | C | T | 2 | a0003c0004t0001g0056 a0003c0004t0001g0057 |
2 | HG01192.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.204+7458G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569462 | |||||||
| chr17:17569579 | G | A | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+7341C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569579 | |||||||
| chr17:17569608 | T | G | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+7312A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569608 | |||||||
| chr17:17569698 | T | C | 3 | a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 |
3 | NA18939.hp2 NA18959.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.204+7222A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569698 | |||||||
| chr17:17569700 | C | T | 16 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(13): Show |
16 | HG00099.hp1 HG00423.hp2 HG01952.hp2 others(13): Show |
intron_variant | MODIFIER | c.204+7220G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569700 | |||||||
| chr17:17569891 | G | A | 1 | a0001c0001t0001g0097 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.204+7029C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569891 | |||||||
| chr17:17570109 | G | A | 1 | a0001c0001t0001g0182 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.204+6811C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570109 | |||||||
| chr17:17570232 | T | C | 1 | a0002c0002t0001g0157 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.204+6688A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570232 | |||||||
| chr17:17570539 | C | T | 109 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(106): Show |
122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+6381G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570539 | |||||||
| chr17:17570815 | C | T | 2 | a0001c0001t0002g0079 a0002c0012t0001g0294 |
2 | HG02074.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.204+6105G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570815 | |||||||
| chr17:17570829 | C | T | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+6091G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570829 | |||||||
| chr17:17570840 | A | G | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+6080T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570840 | |||||||
| chr17:17570890 | C | G | 146 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(143): Show |
161 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
intron_variant | MODIFIER | c.204+6030G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570890 | |||||||
| chr17:17570921 | G | C | 1 | a0001c0001t0001g0148 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.204+5999C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570921 | |||||||
| chr17:17570993 | G | A | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+5927C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570993 | |||||||
| chr17:17571023 | T | C | 2 | a0002c0002t0001g0196 a0002c0002t0001g0199 |
2 | HG02970.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.204+5897A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571023 | |||||||
| chr17:17571164 | G | A | 1 | a0001c0001t0001g0102 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.204+5756C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571164 | |||||||
| chr17:17571390 | A | G | 1 | a0001c0001t0001g0148 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.204+5530T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571390 | |||||||
| chr17:17571522 | G | A | 13 | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0105 others(10): Show |
14 | HG00438.hp2 HG00741.hp1 HG02083.hp2 others(11): Show |
intron_variant | MODIFIER | c.204+5398C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571522 | |||||||
| chr17:17571711 | G | GT | 121 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(118): Show |
136 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(133): Show |
intron_variant | MODIFIER | c.204+5208dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571711 | |||||||
| chr17:17571711 | G | GTT | 30 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(27): Show |
30 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.204+5207_204+5208d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571711 | |||||||
| chr17:17571720 | T | C | 3 | a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0170 |
3 | NA18946.hp1 NA18950.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.204+5200A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571720 | |||||||
| chr17:17571793 | C | T | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+5127G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571793 | |||||||
| chr17:17571798 | C | G | 1 | a0002c0002t0001g0119 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.204+5122G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571798 | |||||||
| chr17:17572036 | T | G | 109 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(106): Show |
122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+4884A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572036 | |||||||
| chr17:17572154 | A | G | 146 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(143): Show |
161 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
intron_variant | MODIFIER | c.204+4766T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572154 | |||||||
| chr17:17572253 | T | C | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+4667A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572253 | |||||||
| chr17:17572397 | C | T | 1 | a0002c0002t0001g0260 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.204+4523G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572397 | |||||||
| chr17:17572458 | G | A | 1 | a0002c0002t0001g0145 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.204+4462C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572458 | |||||||
| chr17:17572540 | C | T | 1 | a0002c0002t0001g0150 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.204+4380G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572540 | |||||||
| chr17:17572566 | A | G | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+4354T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572566 | |||||||
| chr17:17572584 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.204+4336C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572584 | |||||||
| chr17:17572707 | G | A | 199 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(196): Show |
216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.204+4213C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572707 | |||||||
| chr17:17572717 | T | A | 56 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(53): Show |
58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+4203A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572717 | |||||||
| chr17:17572927 | G | A | 1 | a0002c0002t0001g0125 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.204+3993C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572927 | |||||||
| chr17:17572958 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.204+3962C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572958 | |||||||
| chr17:17573001 | C | T | 1 | a0001c0001t0001g0097 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.204+3919G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573001 | |||||||
| chr17:17573031 | A | G | 19 | a0001c0001t0001g0012 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+3889T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573031 | |||||||
| chr17:17573066 | G | A | 81 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(78): Show |
94 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.204+3854C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573066 | |||||||
| chr17:17573108 | G | C | 1 | a0001c0001t0001g0102 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.204+3812C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573108 | |||||||
| chr17:17573153 | C | T | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.204+3767G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573153 | |||||||
| chr17:17573251 | G | A | 1 | a0002c0002t0001g0227 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.204+3669C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573251 | |||||||
| chr17:17573273 | T | C | 1 | a0002c0002t0001g0271 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.204+3647A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573273 | |||||||
| chr17:17573344 | G | A | 1 | a0001c0001t0001g0274 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.204+3576C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573344 | |||||||
| chr17:17573404 | T | C | 1 | a0001c0001t0001g0183 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.204+3516A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573404 | |||||||
| chr17:17573466 | C | CA | 7 | a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0077 others(4): Show |
7 | HG02004.hp1 HG02451.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.204+3453dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573466 | |||||||
| chr17:17573466 | CA | C | 9 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0072 others(6): Show |
9 | HG01169.hp2 HG01256.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+3453delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573466 | |||||||
| chr17:17573477 | A | G | 34 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(31): Show |
36 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.204+3443T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573477 | |||||||
| chr17:17573600 | T | C | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+3320A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573600 | |||||||
| chr17:17573602 | T | G | 1 | a0003c0003t0001g0216 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.204+3318A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573602 | |||||||
| chr17:17573622 | A | C | 1 | a0001c0001t0001g0324 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.204+3298T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573622 | |||||||
| chr17:17573942 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.204+2978G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573942 | |||||||
| chr17:17574070 | T | C | 202 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(199): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+2850A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574070 | |||||||
| chr17:17574149 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+2771T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574149 | |||||||
| chr17:17574209 | C | T | 1 | a0002c0002t0001g0260 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.204+2711G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574209 | |||||||
| chr17:17574211 | A | G | 1 | a0001c0001t0002g0312 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.204+2709T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574211 | |||||||
| chr17:17574244 | C | CA | 56 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0074 others(53): Show |
59 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+2675dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574244 | |||||||
| chr17:17574244 | C | CAA | 8 | a0001c0001t0001g0137 a0002c0002t0001g0124 a0002c0002t0001g0127 others(5): Show |
8 | HG01070.hp2 HG01258.hp2 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.204+2674_204+2675d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574244 | |||||||
| chr17:17574244 | CA | C | 29 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(26): Show |
29 | HG00544.hp2 HG01884.hp1 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.204+2675delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574244 | |||||||
| chr17:17574253 | A | C | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.204+2667T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574253 | |||||||
| chr17:17574265 | A | AAC | 26 | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0039 others(23): Show |
27 | HG00544.hp1 HG01106.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+2654_204+2655i others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574265 | |||||||
| chr17:17574265 | A | AC | 66 | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 others(63): Show |
78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.204+2654dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574265 | |||||||
| chr17:17574265 | A | C | 14 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 others(11): Show |
14 | HG00673.hp2 HG01099.hp1 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.204+2655T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574265 | |||||||
| chr17:17574315 | C | CT | 15 | a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0274 others(12): Show |
15 | HG00323.hp1 HG01433.hp2 HG02165.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+2604dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | |||||||
| chr17:17574315 | C | CTT | 29 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(26): Show |
31 | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.204+2603_204+2604d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | |||||||
| chr17:17574315 | CT | C | 25 | a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0077 others(22): Show |
26 | HG01109.hp1 HG01192.hp2 HG02257.hp2 others(23): Show |
intron_variant | MODIFIER | c.204+2604delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | |||||||
| chr17:17574315 | CTT | C | 27 | a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+2603_204+2604d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | |||||||
| chr17:17574336 | T | A | 1 | a0001c0001t0001g0218 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.204+2584A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574336 | |||||||
| chr17:17574438 | G | C | 1 | a0001c0001t0001g0306 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2482C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574438 | |||||||
| chr17:17574439 | C | G | 1 | a0001c0001t0001g0306 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2481G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574439 | |||||||
| chr17:17574533 | C | T | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(109): Show |
125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+2387G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574533 | |||||||
| chr17:17574771 | A | G | 1 | a0001c0001t0001g0115 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.204+2149T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574771 | |||||||
| chr17:17574868 | A | G | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+2052T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574868 | |||||||
| chr17:17574876 | C | G | 1 | a0001c0001t0001g0306 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2044G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574876 | |||||||
| chr17:17574876 | C | T | 26 | a0001c0001t0001g0073 a0001c0001t0001g0148 a0001c0001t0001g0152 others(23): Show |
26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+2044G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574876 | |||||||
| chr17:17574877 | G | C | 1 | a0001c0001t0001g0306 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2043C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574877 | |||||||
| chr17:17574881 | G | C | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+2039C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574881 | |||||||
| chr17:17575038 | T | C | 147 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(144): Show |
162 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
intron_variant | MODIFIER | c.204+1882A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575038 | |||||||
| chr17:17575076 | C | T | 111 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(108): Show |
124 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.204+1844G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575076 | |||||||
| chr17:17575119 | T | A | 16 | a0001c0001t0001g0210 a0001c0001t0001g0248 a0002c0002t0001g0223 others(13): Show |
16 | HG00140.hp2 HG00280.hp1 HG01081.hp2 others(13): Show |
intron_variant | MODIFIER | c.204+1801A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575119 | |||||||
| chr17:17575363 | G | A | 1 | a0001c0001t0001g0113 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.204+1557C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575363 | |||||||
| chr17:17575419 | T | C | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.204+1501A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575419 | |||||||
| chr17:17575461 | C | A | 81 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(78): Show |
94 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.204+1459G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575461 | |||||||
| chr17:17575474 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.204+1446G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575474 | |||||||
| chr17:17575564 | T | G | 203 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(200): Show |
220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+1356A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575564 | |||||||
| chr17:17575603 | C | T | 141 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(138): Show |
156 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
intron_variant | MODIFIER | c.204+1317G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575603 | |||||||
| chr17:17575621 | G | A | 27 | a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0001g0154 others(24): Show |
29 | HG00438.hp1 HG01069.hp1 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.204+1299C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575621 | |||||||
| chr17:17575714 | C | T | 10 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(7): Show |
12 | HG02258.hp2 HG02280.hp2 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.204+1206G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575714 | |||||||
| chr17:17575970 | A | T | 1 | a0002c0002t0001g0228 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.204+950T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575970 | |||||||
| chr17:17576043 | G | T | 1 | a0002c0002t0001g0227 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.204+877C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576043 | |||||||
| chr17:17576085 | CCCCAGGA others(30): Show |
C | 1 | a0001c0001t0001g0153 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.204+798_204+834del others(37): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576085 | |||||||
| chr17:17576211 | A | G | 40 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0078 others(37): Show |
42 | HG01109.hp1 HG01433.hp1 HG01891.hp1 others(39): Show |
intron_variant | MODIFIER | c.204+709T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576211 | |||||||
| chr17:17576321 | G | GCCCGGGC others(11): Show |
3 | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 |
3 | HG02895.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.204+581_204+598dup others(18): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576321 | |||||||
| chr17:17576369 | G | A | 1 | a0001c0001t0001g0293 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.204+551C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576369 | |||||||
| chr17:17576550 | A | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 |
3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+370T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576550 | |||||||
| chr17:17576557 | C | A | 4 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0196 others(1): Show |
4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+363G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576557 | |||||||
| chr17:17576620 | C | G | 1 | a0001c0001t0001g0006 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+300G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576620 | |||||||
| chr17:17576706 | C | G | 3 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0003c0003t0001g0031 |
3 | HG01106.hp1 HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.204+214G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576706 | |||||||
| chr17:17576873 | A | G | 96 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(93): Show |
101 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(98): Show |
intron_variant | MODIFIER | c.204+47T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576873 | |||||||
| chr17:17576881 | A | G | 199 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(196): Show |
216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.204+39T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576881 | |||||||
| chr17:17576912 | T | C | 1 | a0003c0003t0001g0058 | 1 | HG01346.hp2 | splice_region_variant&intron_variant | LOW | c.204+8A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576912 | |||||||
| chr17:17577148 | G | A | 2 | a0005c0006t0001g0015 a0005c0006t0001g0016 |
2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.97-121C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577148 | |||||||
| chr17:17577160 | T | C | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.97-133A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577160 | |||||||
| chr17:17577243 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.97-216C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577243 | |||||||
| chr17:17577289 | C | T | 1 | a0001c0001t0001g0160 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.97-262G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577289 | |||||||
| chr17:17577368 | G | T | 1 | a0002c0002t0001g0132 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.97-341C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577368 | |||||||
| chr17:17577444 | T | C | 8 | a0001c0001t0001g0122 a0002c0002t0001g0116 a0002c0002t0001g0126 others(5): Show |
8 | HG01070.hp2 HG02630.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.97-417A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577444 | |||||||
| chr17:17577523 | A | G | 6 | a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0017 others(3): Show |
6 | HG02486.hp2 HG02572.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.97-496T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577523 | |||||||
| chr17:17577668 | G | GA | 15 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0080 others(12): Show |
16 | HG01109.hp1 HG02055.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.97-642dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577668 | |||||||
| chr17:17577712 | T | G | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-685A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577712 | |||||||
| chr17:17577755 | T | C | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97-728A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577755 | |||||||
| chr17:17578003 | T | C | 109 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(106): Show |
115 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.97-976A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578003 | |||||||
| chr17:17578011 | C | T | 1 | a0003c0003t0001g0268 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.97-984G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578011 | |||||||
| chr17:17578016 | C | CA | 10 | a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0207 others(7): Show |
10 | HG01975.hp2 HG02135.hp1 HG02738.hp1 others(7): Show |
intron_variant | MODIFIER | c.97-990dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578016 | |||||||
| chr17:17578016 | CA | C | 47 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(44): Show |
49 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(46): Show |
intron_variant | MODIFIER | c.97-990delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578016 | |||||||
| chr17:17578039 | G | A | 1 | a0001c0001t0001g0305 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.97-1012C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578039 | |||||||
| chr17:17578039 | G | T | 47 | a0001c0001t0001g0003 a0001c0001t0001g0076 a0001c0001t0001g0077 others(44): Show |
49 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(46): Show |
intron_variant | MODIFIER | c.97-1012C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578039 | |||||||
| chr17:17578344 | T | C | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1317A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578344 | |||||||
| chr17:17578431 | C | T | 2 | a0001c0001t0001g0091 a0002c0002t0001g0026 |
2 | HG03540.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.97-1404G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578431 | |||||||
| chr17:17578503 | T | C | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97-1476A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578503 | |||||||
| chr17:17578539 | T | C | 10 | a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0306 others(7): Show |
10 | HG01192.hp2 HG01257.hp2 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.97-1512A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578539 | |||||||
| chr17:17578711 | T | C | 65 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(62): Show |
69 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.97-1684A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578711 | |||||||
| chr17:17578738 | T | C | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.97-1711A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578738 | |||||||
| chr17:17578830 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1803C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578830 | |||||||
| chr17:17578849 | C | A | 9 | a0001c0001t0003g0013 a0005c0006t0001g0015 a0005c0006t0001g0016 others(6): Show |
9 | HG01891.hp1 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.97-1822G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578849 | |||||||
| chr17:17578859 | T | C | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1832A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578859 | |||||||
| chr17:17578896 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1869C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578896 | |||||||
| chr17:17578932 | A | C | 1 | a0002c0002t0001g0123 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.97-1905T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578932 | |||||||
| chr17:17578941 | A | T | 2 | a0001c0001t0001g0006 a0001c0001t0001g0171 |
3 | HG02818.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.97-1914T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578941 | |||||||
| chr17:17579088 | G | C | 1 | a0001c0001t0001g0080 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.97-2061C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579088 | |||||||
| chr17:17579090 | G | A | 18 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-2063C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579090 | |||||||
| chr17:17579120 | G | T | 41 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(38): Show |
43 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.97-2093C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579120 | |||||||
| chr17:17579136 | G | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.97-2109C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579136 | |||||||
| chr17:17579176 | C | T | 3 | a0001c0001t0001g0149 a0001c0001t0002g0079 a0001c0001t0002g0312 |
3 | HG02055.hp1 HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.97-2149G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579176 | |||||||
| chr17:17579249 | G | A | 1 | a0002c0002t0001g0311 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.97-2222C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579249 | |||||||
| chr17:17579304 | C | T | 2 | a0001c0001t0001g0075 a0001c0001t0001g0314 |
2 | HG01975.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.97-2277G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579304 | |||||||
| chr17:17579399 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.97-2372G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579399 | |||||||
| chr17:17579413 | C | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.97-2386G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579413 | |||||||
| chr17:17579452 | C | T | 44 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(41): Show |
46 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(43): Show |
intron_variant | MODIFIER | c.97-2425G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579452 | |||||||
| chr17:17579779 | T | C | 1 | a0001c0001t0001g0151 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.97-2752A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579779 | |||||||
| chr17:17579983 | G | A | 21 | a0001c0001t0001g0122 a0002c0002t0001g0116 a0002c0002t0001g0119 others(18): Show |
21 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(18): Show |
intron_variant | MODIFIER | c.97-2956C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579983 | |||||||
| chr17:17580010 | C | T | 1 | a0001c0001t0001g0272 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.97-2983G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580010 | |||||||
| chr17:17580238 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-3211C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580238 | |||||||
| chr17:17580624 | A | G | 1 | a0002c0002t0001g0271 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.97-3597T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580624 | |||||||
| chr17:17580773 | C | T | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97-3746G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580773 | |||||||
| chr17:17580784 | T | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-3757A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580784 | |||||||
| chr17:17580906 | G | A | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.97-3879C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580906 | |||||||
| chr17:17580921 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.97-3894G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580921 | |||||||
| chr17:17581227 | G | A | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.97-4200C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581227 | |||||||
| chr17:17581308 | C | T | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-4281G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581308 | |||||||
| chr17:17581340 | C | T | 44 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(41): Show |
46 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(43): Show |
intron_variant | MODIFIER | c.97-4313G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581340 | |||||||
| chr17:17581374 | C | G | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(17): Show |
22 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(19): Show |
intron_variant | MODIFIER | c.97-4347G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581374 | |||||||
| chr17:17581405 | G | A | 40 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(37): Show |
42 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.97-4378C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581405 | |||||||
| chr17:17581463 | T | TAAAAATG others(2091): Show |
1 | a0001c0001t0001g0059 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.97-4437_97-4436ins others(2098): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581463 | |||||||
| chr17:17581497 | G | C | 2 | a0006c0013t0001g0061 a0010c0014t0001g0060 |
2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97-4470C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581497 | |||||||
| chr17:17581611 | AC | A | 18 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-4585delG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581611 | |||||||
| chr17:17581620 | A | G | 31 | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0118 others(28): Show |
33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.97-4593T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581620 | |||||||
| chr17:17581727 | A | G | 13 | a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0080 others(10): Show |
14 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.97-4700T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581727 | |||||||
| chr17:17581827 | G | A | 1 | a0001c0001t0001g0209 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.97-4800C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581827 | |||||||
| chr17:17581860 | T | C | 2 | a0001c0001t0001g0296 a0001c0001t0001g0297 |
2 | HG02132.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.97-4833A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581860 | |||||||
| chr17:17581948 | A | C | 1 | a0002c0002t0001g0131 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.97-4921T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581948 | |||||||
| chr17:17582068 | G | A | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.97-5041C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582068 | |||||||
| chr17:17582270 | G | A | 16 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(13): Show |
16 | HG00099.hp1 HG00423.hp2 HG01952.hp2 others(13): Show |
intron_variant | MODIFIER | c.97-5243C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582270 | |||||||
| chr17:17582291 | G | T | 2 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | HG02922.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.97-5264C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582291 | |||||||
| chr17:17582323 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.97-5296G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582323 | |||||||
| chr17:17582357 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-5330C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582357 | |||||||
| chr17:17582409 | C | T | 18 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-5382G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582409 | |||||||
| chr17:17582518 | G | T | 4 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0196 others(1): Show |
4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.97-5491C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582518 | |||||||
| chr17:17582805 | C | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97-5778G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582805 | |||||||
| chr17:17582862 | G | C | 18 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-5835C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582862 | |||||||
| chr17:17582979 | T | C | 4 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(1): Show |
4 | HG01975.hp2 HG01981.hp1 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.97-5952A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582979 | |||||||
| chr17:17583010 | C | T | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.97-5983G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583010 | |||||||
| chr17:17583061 | CA | C | 9 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0305 others(6): Show |
9 | HG01167.hp2 HG01168.hp1 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.97-6035delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583061 | |||||||
| chr17:17583205 | C | G | 64 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(61): Show |
75 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.97-6178G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583205 | |||||||
| chr17:17583480 | A | T | 4 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0196 others(1): Show |
4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.97-6453T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583480 | |||||||
| chr17:17583644 | A | G | 1 | a0001c0001t0001g0151 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.97-6617T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583644 | |||||||
| chr17:17583698 | G | A | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97-6671C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583698 | |||||||
| chr17:17583793 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.97-6766G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583793 | |||||||
| chr17:17583923 | AG | A | 3 | a0001c0001t0001g0149 a0001c0001t0002g0079 a0001c0001t0002g0312 |
3 | HG02055.hp1 HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.97-6897delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583923 | |||||||
| chr17:17584034 | G | A | 3 | a0001c0001t0001g0097 a0001c0001t0001g0322 a0001c0001t0001g0323 |
3 | NA18995.hp1 NA19074.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.97-7007C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584034 | |||||||
| chr17:17584100 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.97-7073G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584100 | |||||||
| chr17:17584104 | G | A | 9 | a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0298 others(6): Show |
9 | NA18941.hp1 NA18947.hp1 NA18949.hp2 others(6): Show |
intron_variant | MODIFIER | c.97-7077C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584104 | |||||||
| chr17:17584126 | C | T | 64 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(61): Show |
75 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.97-7099G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584126 | |||||||
| chr17:17584252 | C | T | 1 | a0001c0001t0001g0307 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.97-7225G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584252 | |||||||
| chr17:17584262 | C | T | 27 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(24): Show |
27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.97-7235G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584262 | |||||||
| chr17:17584322 | G | A | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.96+7209C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584322 | |||||||
| chr17:17584361 | G | A | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.96+7170C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584361 | |||||||
| chr17:17584381 | G | A | 5 | a0001c0001t0001g0211 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | HG01192.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+7150C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584381 | |||||||
| chr17:17584405 | T | C | 41 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(38): Show |
43 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.96+7126A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584405 | |||||||
| chr17:17584441 | G | A | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96+7090C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584441 | |||||||
| chr17:17584635 | T | G | 1 | a0002c0002t0001g0146 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.96+6896A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584635 | |||||||
| chr17:17584735 | C | T | 1 | a0001c0001t0001g0151 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.96+6796G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584735 | |||||||
| chr17:17584789 | A | G | 1 | a0001c0001t0001g0098 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.96+6742T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584789 | |||||||
| chr17:17584810 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.96+6721G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584810 | |||||||
| chr17:17584912 | T | C | 1 | a0001c0001t0001g0169 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.96+6619A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584912 | |||||||
| chr17:17584919 | G | A | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96+6612C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584919 | |||||||
| chr17:17585188 | A | T | 8 | a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0017 others(5): Show |
8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+6343T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585188 | |||||||
| chr17:17585253 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.96+6278C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585253 | |||||||
| chr17:17585307 | C | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+6224G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585307 | |||||||
| chr17:17585445 | T | C | 1 | a0003c0003t0001g0062 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.96+6086A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585445 | |||||||
| chr17:17585501 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+6030C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585501 | |||||||
| chr17:17585513 | A | G | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.96+6018T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585513 | |||||||
| chr17:17585554 | C | T | 1 | a0003c0003t0001g0212 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.96+5977G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585554 | |||||||
| chr17:17585781 | A | C | 8 | a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0017 others(5): Show |
8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+5750T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585781 | |||||||
| chr17:17585837 | C | T | 4 | a0001c0001t0001g0263 a0001c0001t0001g0270 a0003c0003t0001g0268 others(1): Show |
4 | HG01109.hp2 HG01256.hp1 HG01361.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+5694G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585837 | |||||||
| chr17:17585932 | A | G | 1 | a0004c0005t0001g0267 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.96+5599T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585932 | |||||||
| chr17:17585944 | G | A | 1 | a0001c0001t0001g0304 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.96+5587C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585944 | |||||||
| chr17:17585991 | G | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5540C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585991 | |||||||
| chr17:17585992 | A | G | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5539T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585992 | |||||||
| chr17:17586061 | C | T | 1 | a0004c0007t0001g0035 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.96+5470G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586061 | |||||||
| chr17:17586069 | C | T | 5 | a0001c0001t0001g0263 a0001c0001t0001g0270 a0003c0003t0001g0268 others(2): Show |
5 | HG01109.hp2 HG01256.hp1 HG01361.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+5462G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586069 | |||||||
| chr17:17586082 | C | CA | 12 | a0001c0001t0001g0063 a0001c0001t0001g0170 a0001c0001t0001g0190 others(9): Show |
12 | HG00140.hp1 HG01175.hp1 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.96+5448dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586082 | |||||||
| chr17:17586082 | CA | C | 6 | a0001c0001t0001g0076 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | HG02451.hp2 NA18948.hp1 NA18984.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+5448delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586082 | |||||||
| chr17:17586136 | A | C | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5395T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586136 | |||||||
| chr17:17586154 | AAAAG | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+5373_96+5376del others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586154 | |||||||
| chr17:17586189 | A | G | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5342T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586189 | |||||||
| chr17:17586193 | G | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5338C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586193 | |||||||
| chr17:17586197 | G | A | 2 | a0001c0001t0001g0092 a0003c0004t0001g0023 |
2 | HG03098.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.96+5334C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | |||||||
| chr17:17586197 | GGAAAGAA others(19): Show |
G | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.96+5308_96+5333del others(26): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | |||||||
| chr17:17586197 | GGAAAGAA others(23): Show |
G | 1 | a0005c0006t0001g0019 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.96+5304_96+5333del others(30): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | |||||||
| chr17:17586197 | GGAAAGAA others(27): Show |
G | 2 | a0005c0006t0001g0017 a0005c0006t0001g0018 |
2 | NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.96+5300_96+5333del others(34): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | |||||||
| chr17:17586197 | GGAAAGAA others(35): Show |
G | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+5292_96+5333del others(42): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | |||||||
| chr17:17586197 | GGAAAGAA others(43): Show |
G | 2 | a0005c0006t0001g0015 a0005c0006t0001g0016 |
2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.96+5284_96+5333del others(50): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | |||||||
| chr17:17586201 | A | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+5330T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586201 | |||||||
| chr17:17586207 | A | C | 1 | a0001c0001t0001g0039 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.96+5324T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586207 | |||||||
| chr17:17586208 | AAGAAAGA others(5): Show |
A | 1 | a0001c0001t0001g0077 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.96+5311_96+5322del others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586208 | |||||||
| chr17:17586210 | G | A | 1 | a0001c0001t0001g0076 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.96+5321C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586210 | |||||||
| chr17:17586212 | A | C | 41 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0120 others(38): Show |
43 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.96+5319T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586212 | |||||||
| chr17:17586212 | A | G | 1 | a0001c0001t0001g0076 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.96+5319T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586212 | |||||||
| chr17:17586214 | G | A | 3 | a0001c0001t0001g0076 a0001c0001t0001g0092 a0002c0002t0001g0234 |
3 | HG02451.hp2 HG03098.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.96+5317C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586214 | |||||||
| chr17:17586216 | A | AAAAG | 29 | a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0178 others(26): Show |
29 | HG00323.hp1 HG01081.hp2 HG01123.hp2 others(26): Show |
intron_variant | MODIFIER | c.96+5311_96+5314dup others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | A | AAAAGAAA others(1): Show |
19 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0099 others(16): Show |
20 | HG00423.hp1 HG00423.hp2 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+5307_96+5314dup others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | A | AAAAGAAA others(5): Show |
12 | a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0225 others(9): Show |
12 | HG02132.hp1 HG02523.hp1 HG02523.hp2 others(9): Show |
intron_variant | MODIFIER | c.96+5303_96+5314dup others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | A | AAAAGAAA others(13): Show |
1 | a0001c0001t0001g0179 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.96+5295_96+5314dup others(20): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | A | AGAAAGAA others(10): Show |
1 | a0002c0002t0001g0265 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.96+5314_96+5315ins others(17): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | A | G | 22 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0076 others(19): Show |
24 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.96+5315T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | AAAAG | A | 26 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0074 others(23): Show |
26 | HG00099.hp1 HG01243.hp2 HG01256.hp1 others(23): Show |
intron_variant | MODIFIER | c.96+5311_96+5314del others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | AAAAGAAA others(1): Show |
A | 6 | a0001c0001t0001g0254 a0001c0001t0001g0317 a0001c0001t0001g0318 others(3): Show |
8 | HG01192.hp1 HG01515.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+5307_96+5314del others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | AAAAGAAA others(5): Show |
A | 1 | a0001c0001t0001g0292 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.96+5303_96+5314del others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586216 | AAAAGAAA others(9): Show |
A | 1 | a0001c0001t0001g0151 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.96+5299_96+5314del others(16): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | |||||||
| chr17:17586249 | AAAGAAAG others(24): Show |
A | 1 | a0005c0006t0001g0020 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.96+5251_96+5281del others(31): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586249 | |||||||
| chr17:17586256 | GAAAGAAA others(29): Show |
G | 1 | a0001c0001t0001g0133 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.96+5239_96+5274del others(36): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586256 | |||||||
| chr17:17586260 | GAAAGAAA others(25): Show |
G | 1 | a0002c0002t0001g0145 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.96+5239_96+5270del others(32): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586260 | |||||||
| chr17:17586264 | G | T | 1 | a0003c0003t0001g0212 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.96+5267C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | |||||||
| chr17:17586264 | GAAAGAAA others(18): Show |
G | 1 | a0001c0001t0001g0109 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.96+5242_96+5266del others(25): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | |||||||
| chr17:17586264 | GAAAGAAA others(21): Show |
G | 4 | a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0136 others(1): Show |
4 | HG02280.hp2 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+5239_96+5266del others(28): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | |||||||
| chr17:17586264 | GAAAGAAA others(23): Show |
G | 1 | a0002c0002t0001g0150 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.96+5237_96+5266del others(30): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | |||||||
| chr17:17586267 | A | G | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5264T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586267 | |||||||
| chr17:17586268 | G | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5263C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586268 | |||||||
| chr17:17586268 | GAAAGAAA others(17): Show |
G | 2 | a0001c0001t0001g0003 a0003c0003t0001g0138 |
2 | HG01243.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.96+5239_96+5262del others(24): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586268 | |||||||
| chr17:17586268 | GAAAGAAA others(19): Show |
G | 1 | a0002c0002t0001g0088 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.96+5237_96+5262del others(26): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586268 | |||||||
| chr17:17586270 | AAGAAAGA others(7): Show |
A | 1 | a0001c0001t0003g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96+5247_96+5260del others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586270 | |||||||
| chr17:17586272 | GAAAGAAA others(13): Show |
G | 1 | a0001c0001t0001g0137 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.96+5239_96+5258del others(20): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586272 | |||||||
| chr17:17586272 | GAAAGAAA others(14): Show |
G | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.96+5238_96+5258del others(21): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586272 | |||||||
| chr17:17586272 | GAAAGAAA others(15): Show |
G | 5 | a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show |
5 | HG01109.hp1 HG02895.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+5237_96+5258del others(22): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586272 | |||||||
| chr17:17586273 | AAAGAAAG others(8): Show |
A | 2 | a0002c0002t0001g0242 a0002c0002t0001g0244 |
2 | HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.96+5243_96+5257del others(15): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586273 | |||||||
| chr17:17586274 | AAGAAAGA others(3): Show |
A | 1 | a0003c0004t0001g0045 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.96+5247_96+5256del others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586274 | |||||||
| chr17:17586276 | GAAAGAAA others(6): Show |
G | 1 | a0001c0001t0001g0114 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.96+5242_96+5254del others(13): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586276 | |||||||
| chr17:17586276 | GAAAGAAA others(9): Show |
G | 3 | a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0148 |
3 | HG02647.hp1 HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.96+5239_96+5254del others(16): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586276 | |||||||
| chr17:17586276 | GAAAGAAA others(11): Show |
G | 1 | a0001c0001t0001g0089 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.96+5237_96+5254del others(18): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586276 | |||||||
| chr17:17586280 | GAAAGAAA others(3): Show |
G | 4 | a0001c0001t0001g0012 a0001c0001t0001g0160 a0001c0001t0001g0174 others(1): Show |
4 | HG02055.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+5241_96+5250del others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586280 | |||||||
| chr17:17586280 | GAAAGAAA others(5): Show |
G | 2 | a0001c0001t0001g0198 a0002c0002t0001g0119 |
2 | HG01069.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.96+5239_96+5250del others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586280 | |||||||
| chr17:17586280 | GAAAGAAA others(7): Show |
G | 1 | a0001c0001t0002g0079 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.96+5237_96+5250del others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586280 | |||||||
| chr17:17586281 | AAAG | A | 5 | a0001c0001t0001g0067 a0001c0001t0001g0259 a0003c0003t0001g0065 others(2): Show |
5 | HG01346.hp1 HG01978.hp1 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.96+5247_96+5249del others(3): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586281 | |||||||
| chr17:17586283 | AG | A | 7 | a0003c0003t0001g0002 a0003c0003t0001g0220 a0005c0006t0001g0015 others(4): Show |
7 | HG01891.hp1 HG02572.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+5247delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586283 | |||||||
| chr17:17586284 | G | A | 3 | a0005c0006t0001g0017 a0005c0006t0001g0019 a0005c0006t0001g0020 |
3 | HG02486.hp2 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.96+5247C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | |||||||
| chr17:17586284 | G | GAA | 4 | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0215 others(1): Show |
6 | HG02257.hp1 NA18939.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+5245_96+5246dup others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | |||||||
| chr17:17586284 | GAAAGA | G | 7 | a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0113 others(4): Show |
7 | HG01175.hp2 HG02080.hp1 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+5242_96+5246del others(5): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | |||||||
| chr17:17586284 | GAAAGAA | G | 6 | a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0165 others(3): Show |
6 | HG00544.hp2 HG01884.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+5241_96+5246del others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | |||||||
| chr17:17586284 | GAAAGAAA others(1): Show |
G | 6 | a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0140 others(3): Show |
6 | HG00099.hp2 HG01070.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+5239_96+5246del others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | |||||||
| chr17:17586284 | GAAAGAAA others(3): Show |
G | 5 | a0001c0001t0001g0006 a0001c0001t0001g0083 a0001c0001t0001g0090 others(2): Show |
5 | HG02055.hp1 HG02559.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+5237_96+5246del others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | |||||||
| chr17:17586287 | AG | A | 4 | a0001c0001t0001g0055 a0003c0004t0001g0208 a0004c0005t0001g0052 others(1): Show |
4 | HG01884.hp2 HG03834.hp2 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.96+5243delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586287 | |||||||
| chr17:17586288 | G | A | 37 | a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0214 others(34): Show |
44 | HG00408.hp2 HG00544.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.96+5243C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586288 | G | GAAA | 7 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0063 others(4): Show |
7 | HG01123.hp1 HG01169.hp1 HG01257.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+5240_96+5242dup others(3): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586288 | G | GAAAGAAA others(5): Show |
1 | a0004c0005t0001g0205 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.96+5242_96+5243ins others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586288 | G | GAAAGAAA others(6): Show |
1 | a0001c0001t0001g0213 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.96+5242_96+5243ins others(13): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586288 | GA | G | 8 | a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0104 others(5): Show |
8 | HG00741.hp1 HG02738.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.96+5242delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586288 | GAA | G | 10 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0081 others(7): Show |
10 | HG01891.hp2 HG02080.hp2 HG02083.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+5241_96+5242del others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586288 | GAAAA | G | 7 | a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0139 others(4): Show |
7 | HG00140.hp1 HG00741.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.96+5239_96+5242del others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | |||||||
| chr17:17586289 | A | AAAG | 13 | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(10): Show |
13 | HG01109.hp2 HG01952.hp2 HG02015.hp1 others(10): Show |
intron_variant | MODIFIER | c.96+5241_96+5242ins others(3): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | |||||||
| chr17:17586289 | A | AAAGAAAG others(4): Show |
1 | a0001c0001t0001g0034 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.96+5241_96+5242ins others(11): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | |||||||
| chr17:17586289 | A | AAAGAAAG others(8): Show |
1 | a0001c0001t0001g0173 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.96+5241_96+5242ins others(15): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | |||||||
| chr17:17586289 | A | G | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+5242T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | |||||||
| chr17:17586290 | A | AAG | 8 | a0001c0001t0001g0080 a0001c0001t0001g0156 a0001c0001t0001g0158 others(5): Show |
8 | HG01433.hp1 HG02040.hp1 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+5240_96+5241ins others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586290 | |||||||
| chr17:17586290 | A | AAGAAAGA others(3): Show |
6 | a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0001t0001g0171 others(3): Show |
6 | HG02486.hp1 HG02818.hp2 NA18973.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+5240_96+5241ins others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586290 | |||||||
| chr17:17586290 | A | AAGAAAGA others(7): Show |
1 | a0002c0002t0001g0315 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.96+5240_96+5241ins others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586290 | |||||||
| chr17:17586291 | A | AG | 2 | a0002c0002t0001g0007 a0002c0002t0001g0189 |
3 | HG01071.hp1 HG01099.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.96+5239_96+5240ins others(1): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586291 | |||||||
| chr17:17586291 | A | AGAAAGAA others(10): Show |
1 | a0001c0001t0001g0152 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.96+5239_96+5240ins others(17): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586291 | |||||||
| chr17:17586292 | A | G | 11 | a0001c0001t0001g0197 a0001c0001t0001g0261 a0001c0001t0001g0262 others(8): Show |
11 | HG00323.hp1 HG00639.hp1 HG01106.hp2 others(8): Show |
intron_variant | MODIFIER | c.96+5239T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586292 | |||||||
| chr17:17586293 | A | G | 1 | a0001c0001t0001g0122 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.96+5238T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586293 | |||||||
| chr17:17586294 | A | G | 4 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show |
4 | HG02630.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.96+5237T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586294 | |||||||
| chr17:17586346 | C | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.96+5185G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586346 | |||||||
| chr17:17586373 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+5158A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586373 | |||||||
| chr17:17586546 | G | A | 1 | a0001c0001t0001g0151 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.96+4985C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586546 | |||||||
| chr17:17586579 | G | C | 1 | a0001c0001t0001g0171 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.96+4952C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586579 | |||||||
| chr17:17586666 | G | T | 1 | a0002c0002t0001g0196 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.96+4865C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586666 | |||||||
| chr17:17586754 | G | A | 7 | a0001c0001t0001g0012 a0001c0001t0001g0172 a0001c0001t0001g0173 others(4): Show |
8 | HG02055.hp2 HG02886.hp1 HG03017.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+4777C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586754 | |||||||
| chr17:17586844 | T | C | 2 | a0001c0001t0001g0089 a0001c0001t0001g0090 |
2 | HG02559.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.96+4687A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586844 | |||||||
| chr17:17586864 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+4667C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586864 | |||||||
| chr17:17586876 | G | A | 1 | a0007c0008t0001g0021 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.96+4655C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586876 | |||||||
| chr17:17586913 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+4618C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586913 | |||||||
| chr17:17586997 | C | G | 1 | a0004c0005t0001g0033 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.96+4534G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586997 | |||||||
| chr17:17587069 | T | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+4462A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587069 | |||||||
| chr17:17587175 | C | T | 228 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(225): Show |
245 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
intron_variant | MODIFIER | c.96+4356G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587175 | |||||||
| chr17:17587424 | C | T | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+4107G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587424 | |||||||
| chr17:17587541 | T | C | 1 | a0001c0001t0001g0326 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.96+3990A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587541 | |||||||
| chr17:17587730 | C | T | 1 | a0001c0001t0001g0153 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.96+3801G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587730 | |||||||
| chr17:17587826 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(16): Show |
21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+3705C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587826 | |||||||
| chr17:17587940 | A | C | 1 | a0001c0001t0001g0032 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.96+3591T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587940 | |||||||
| chr17:17587974 | C | T | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.96+3557G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587974 | |||||||
| chr17:17588023 | G | A | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+3508C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588023 | |||||||
| chr17:17588114 | C | T | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+3417G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588114 | |||||||
| chr17:17588174 | T | C | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+3357A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588174 | |||||||
| chr17:17588522 | C | G | 55 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show |
59 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.96+3009G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588522 | |||||||
| chr17:17588614 | G | A | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+2917C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588614 | |||||||
| chr17:17588688 | A | G | 56 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(53): Show |
63 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.96+2843T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588688 | |||||||
| chr17:17588746 | A | G | 56 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(53): Show |
63 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.96+2785T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588746 | |||||||
| chr17:17588763 | G | T | 54 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(51): Show |
61 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.96+2768C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588763 | |||||||
| chr17:17588841 | G | A | 1 | a0001c0001t0001g0307 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.96+2690C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588841 | |||||||
| chr17:17588902 | G | A | 6 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0196 others(3): Show |
6 | HG01891.hp1 HG02922.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+2629C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588902 | |||||||
| chr17:17589018 | T | G | 9 | a0001c0001t0001g0148 a0005c0006t0001g0015 a0005c0006t0001g0016 others(6): Show |
9 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.96+2513A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589018 | |||||||
| chr17:17589021 | C | T | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.96+2510G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589021 | |||||||
| chr17:17589022 | G | A | 7 | a0001c0001t0001g0011 a0001c0001t0001g0308 a0001c0001t0001g0310 others(4): Show |
8 | HG01255.hp2 HG01358.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.96+2509C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589022 | |||||||
| chr17:17589053 | G | C | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(17): Show |
22 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(19): Show |
intron_variant | MODIFIER | c.96+2478C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589053 | |||||||
| chr17:17589117 | C | T | 1 | a0001c0001t0001g0207 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.96+2414G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589117 | |||||||
| chr17:17589138 | T | C | 1 | a0008c0011t0001g0313 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.96+2393A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589138 | |||||||
| chr17:17589190 | G | A | 2 | a0001c0001t0001g0075 a0001c0001t0001g0314 |
2 | HG01975.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.96+2341C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589190 | |||||||
| chr17:17589190 | G | C | 1 | a0001c0001t0001g0115 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.96+2341C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589190 | |||||||
| chr17:17589216 | C | T | 1 | a0001c0001t0001g0152 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.96+2315G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589216 | |||||||
| chr17:17589234 | T | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+2297A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589234 | |||||||
| chr17:17589272 | A | AT | 76 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0034 others(73): Show |
85 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(82): Show |
intron_variant | MODIFIER | c.96+2258dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589272 | |||||||
| chr17:17589272 | A | ATT | 49 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0024 others(46): Show |
52 | HG00438.hp2 HG00544.hp2 HG00741.hp1 others(49): Show |
intron_variant | MODIFIER | c.96+2257_96+2258dup others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589272 | |||||||
| chr17:17589272 | AT | A | 50 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 others(47): Show |
52 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(49): Show |
intron_variant | MODIFIER | c.96+2258delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589272 | |||||||
| chr17:17589291 | T | A | 13 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0107 others(10): Show |
13 | HG00673.hp2 HG01099.hp1 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.96+2240A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589291 | |||||||
| chr17:17589291 | TA | T | 4 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0196 others(1): Show |
4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+2239delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589291 | |||||||
| chr17:17589292 | A | T | 143 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(140): Show |
155 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.96+2239T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589292 | |||||||
| chr17:17589293 | A | T | 2 | a0002c0002t0001g0116 a0003c0004t0001g0023 |
2 | NA19011.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.96+2238T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589293 | |||||||
| chr17:17589340 | G | A | 31 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(28): Show |
31 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.96+2191C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589340 | |||||||
| chr17:17589732 | A | C | 1 | a0003c0003t0001g0030 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.96+1799T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589732 | |||||||
| chr17:17589772 | T | C | 148 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(145): Show |
160 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(157): Show |
intron_variant | MODIFIER | c.96+1759A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589772 | |||||||
| chr17:17589958 | G | A | 131 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(128): Show |
143 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.96+1573C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589958 | |||||||
| chr17:17589991 | G | C | 18 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0078 others(15): Show |
20 | HG01109.hp1 HG01433.hp1 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+1540C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589991 | |||||||
| chr17:17590040 | G | GC | 13 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0002c0002t0001g0196 others(10): Show |
13 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(10): Show |
intron_variant | MODIFIER | c.96+1490dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590040 | |||||||
| chr17:17590045 | C | A | 1 | a0001c0001t0001g0319 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.96+1486G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590045 | |||||||
| chr17:17590081 | G | A | 1 | a0002c0002t0001g0320 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.96+1450C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590081 | |||||||
| chr17:17590159 | T | A | 1 | a0003c0003t0001g0200 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.96+1372A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590159 | |||||||
| chr17:17590285 | C | T | 1 | a0005c0006t0002g0014 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+1246G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590285 | |||||||
| chr17:17590345 | G | C | 1 | a0002c0002t0001g0321 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.96+1186C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590345 | |||||||
| chr17:17590421 | G | A | 3 | a0001c0001t0001g0203 a0004c0005t0001g0201 a0004c0005t0001g0202 |
3 | HG02486.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.96+1110C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590421 | |||||||
| chr17:17590496 | A | G | 198 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(195): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.96+1035T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590496 | |||||||
| chr17:17590513 | A | ACT | 17 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0076 others(14): Show |
19 | HG01109.hp1 HG02451.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.96+1016_96+1017dup others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590513 | |||||||
| chr17:17590678 | C | G | 1 | a0003c0003t0001g0025 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.96+853G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590678 | |||||||
| chr17:17590687 | T | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+844A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590687 | |||||||
| chr17:17590701 | C | T | 197 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(194): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.96+830G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590701 | |||||||
| chr17:17590714 | T | C | 2 | a0001c0001t0001g0322 a0001c0001t0001g0323 |
2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.96+817A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590714 | |||||||
| chr17:17590828 | A | G | 1 | a0001c0001t0001g0075 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.96+703T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590828 | |||||||
| chr17:17590954 | G | T | 1 | a0001c0001t0001g0074 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.96+577C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590954 | |||||||
| chr17:17591114 | A | T | 1 | a0001c0001t0001g0073 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.96+417T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591114 | |||||||
| chr17:17591158 | T | C | 1 | a0001c0001t0001g0324 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.96+373A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591158 | |||||||
| chr17:17591188 | C | A | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+343G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591188 | |||||||
| chr17:17591231 | GACA | G | 51 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(48): Show |
58 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.96+297_96+299delTG others(1): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591231 | |||||||
| chr17:17591244 | T | A | 8 | a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0017 others(5): Show |
8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+287A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591244 | |||||||
| chr17:17591270 | A | C | 1 | a0001c0001t0001g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.96+261T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591270 | |||||||
| chr17:17591354 | C | G | 1 | a0003c0004t0001g0023 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+177G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591354 | |||||||
| chr17:17591370 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.96+161G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591370 | |||||||
| chr17:17591391 | C | A | 1 | a0001c0001t0001g0325 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.96+140G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591391 | |||||||
| chr17:17591420 | T | C | 1 | a0001c0001t0001g0326 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.96+111A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591420 | |||||||
| chr17:17591481 | C | A | 1 | a0002c0002t0001g0327 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.96+50G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591481 |