Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 641455 |
| ensemblid | ENSG00000222036.8 |
| hgncid | 37096 |
| symbol | POTEM |
| name | POTE ankyrin domain family member M |
| refseq_nuc | NM_001145442.1 |
| refseq_prot | NP_001138914.1 |
| ensembl_nuc | ENST00000547889.6 |
| ensembl_prot | ENSP00000448062.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 18967434 |
| end | 19003752 |
| strand | + |
| ver | v1.2 |
| region | chr14:18967434-19003752 |
| region5000 | chr14:18962434-19008752 |
| regionname0 | POTEM_chr14_18967434_19003752 |
| regionname5000 | POTEM_chr14_18962434_19008752 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 508 | 25 | 3 | 4 | 15 | 0 | 3 | 12 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0002 | 1/0 | 508 | 6 | 0 | 5 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0003 | 0/0 | 508 | 5 | 0 | 1 | 4 | 0 | 0 | 3 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0004 | 0/0 | 508 | 4 | 0 | 0 | 3 | 0 | 1 | 3 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0005 | 0/0 | 508 | 3 | 1 | 1 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0006 | 0/0 | 508 | 3 | 0 | 0 | 3 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0007 | 0/0 | 508 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0008 | 0/0 | 508 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0009 | 0/0 | 508 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0010 | 0/0 | 508 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0011 | 0/0 | 508 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0012 | 0/0 | 508 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0013 | 0/0 | 508 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0014 | 0/0 | 508 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0015 | 0/0 | 508 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0016 | 0/0 | 508 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0017 | 0/0 | 508 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0018 | 0/0 | 508 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0019 | 0/0 | 508 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0020 | 0/0 | 508 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| a0021 | 0/0 | 508 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEM_chr14_18962434_19008752 | POTEM | MVAEA others(503): Show |
chr14 | 18962434 | 19008752 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1524 | 23 | 3 | 3 | 14 | 0 | 3 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0001c0012 | 0/0 | 1524 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0001c0020 | 0/0 | 1524 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0002c0002 | 1/0 | 1524 | 6 | 0 | 5 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0003c0003 | 0/0 | 1524 | 5 | 0 | 1 | 4 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0004c0004 | 0/0 | 1524 | 4 | 0 | 0 | 3 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0005c0007 | 0/0 | 1524 | 3 | 1 | 1 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0006c0006 | 0/0 | 1524 | 3 | 0 | 0 | 3 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0007c0005 | 0/0 | 1524 | 3 | 0 | 0 | 3 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0008c0014 | 0/0 | 1524 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0008c0015 | 0/0 | 1524 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0009c0008 | 0/0 | 1524 | 2 | 2 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0010c0010 | 0/0 | 1524 | 2 | 0 | 0 | 0 | 0 | 2 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0011c0009 | 0/0 | 1524 | 2 | 0 | 0 | 2 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0012c0023 | 0/0 | 1524 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0013c0013 | 0/0 | 1524 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0014c0022 | 0/0 | 1524 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0015c0024 | 0/0 | 1524 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0016c0011 | 0/0 | 1524 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0017c0016 | 0/0 | 1524 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0018c0018 | 0/0 | 1524 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0019c0017 | 0/0 | 1524 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0020c0021 | 0/0 | 1524 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 | ||
| a0021c0019 | 0/0 | 1524 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | ATGGT others(1519): Show |
chr14 | 18962434 | 19008752 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6666 | 14 | 1 | 2 | 10 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0001t0003 | 0/0 | 6666 | 2 | 0 | 1 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0001t0004 | 0/0 | 6666 | 2 | 1 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0001t0006 | 0/0 | 6666 | 2 | 0 | 0 | 2 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0001t0025 | 0/0 | 6666 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0001t0026 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0001t0027 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0012t0023 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0001c0020t0018 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0002c0002t0001 | 0/0 | 6666 | 2 | 0 | 2 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0002c0002t0007 | 1/0 | 6666 | 2 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0002c0002t0017 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0002c0002t0030 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0003c0003t0002 | 0/0 | 6666 | 3 | 0 | 0 | 3 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0003c0003t0020 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0003c0003t0021 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0004c0004t0032 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0004c0004t0033 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0004c0004t0034 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0004c0004t0035 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0005c0007t0001 | 0/0 | 6666 | 3 | 1 | 1 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0006c0006t0001 | 0/0 | 6666 | 2 | 0 | 0 | 2 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0006c0006t0022 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0007c0005t0005 | 0/0 | 6666 | 2 | 0 | 0 | 2 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0007c0005t0029 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0008c0014t0013 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0008c0015t0008 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0009c0008t0011 | 0/0 | 6666 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0009c0008t0012 | 0/0 | 6666 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0010c0010t0014 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0010c0010t0015 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0011c0009t0002 | 0/0 | 6666 | 2 | 0 | 0 | 2 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0012c0023t0037 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0013c0013t0016 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0014c0022t0024 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0015c0024t0028 | 0/0 | 6666 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0016c0011t0019 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0017c0016t0031 | 0/0 | 6666 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0018c0018t0010 | 0/0 | 6666 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0019c0017t0036 | 0/0 | 6666 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0020c0021t0001 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| a0021c0019t0009 | 0/0 | 6666 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | GGTAG others(6661): Show |
chr14 | 18962434 | 19008752 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0003g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0003g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0004g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0006g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0006g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0025g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0026g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0001t0027g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0012t0023g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0001c0020t0018g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0002c0002t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0002c0002t0007g0017 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0002c0002t0007g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0002c0002t0017g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0002c0002t0030g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0003c0003t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0003c0003t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0003c0003t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0003c0003t0020g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0003c0003t0021g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0004c0004t0032g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0004c0004t0033g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0004c0004t0034g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0004c0004t0035g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0005c0007t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0005c0007t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0005c0007t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0006c0006t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0006c0006t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0006c0006t0022g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0007c0005t0005g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0007c0005t0005g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0007c0005t0029g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0008c0014t0013g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0008c0015t0008g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0009c0008t0011g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0009c0008t0012g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0010c0010t0014g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0010c0010t0015g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0011c0009t0002g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0011c0009t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0012c0023t0037g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0013c0013t0016g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0014c0022t0024g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0015c0024t0028g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0016c0011t0019g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0017c0016t0031g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0018c0018t0010g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0019c0017t0036g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0020c0021t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| a0021c0019t0009g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | CHS | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG00423 | hp2 | a0008 | c0015 | t0008 | g0005 | EAS | CHS | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG00738 | hp1 | a0001 | c0001 | t0003 | g0054 | AMR | PUR | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | PUR | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01243 | hp1 | a0012 | c0023 | t0037 | g0067 | AMR | PUR | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01243 | hp2 | a0008 | c0014 | t0013 | g0066 | AMR | PUR | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01255 | hp1 | a0003 | c0003 | t0020 | g0035 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01255 | hp2 | a0013 | c0013 | t0016 | g0063 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01261 | hp1 | a0002 | c0002 | t0017 | g0022 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01261 | hp2 | a0001 | c0012 | t0023 | g0062 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01346 | hp2 | a0002 | c0002 | t0007 | g0023 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01361 | hp1 | a0014 | c0022 | t0024 | g0021 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01361 | hp2 | a0015 | c0024 | t0028 | g0061 | AMR | CLM | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01978 | hp1 | a0002 | c0002 | t0030 | g0025 | AMR | PEL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0026 | AMR | PEL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02027 | hp1 | a0016 | c0011 | t0019 | g0039 | EAS | KHV | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02027 | hp2 | a0005 | c0007 | t0001 | g0050 | EAS | KHV | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02083 | hp1 | a0006 | c0006 | t0022 | g0016 | EAS | KHV | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02083 | hp2 | a0017 | c0016 | t0031 | g0038 | EAS | KHV | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02135 | hp1 | a0006 | c0006 | t0001 | g0014 | EAS | KHV | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02135 | hp2 | a0003 | c0003 | t0002 | g0031 | EAS | KHV | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02155 | hp1 | a0001 | c0001 | t0006 | g0029 | EAS | CDX | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | CDX | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02293 | hp1 | a0002 | c0002 | t0001 | g0024 | AMR | PEL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG02293 | hp2 | a0005 | c0007 | t0001 | g0012 | AMR | PEL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03098 | hp1 | a0009 | c0008 | t0012 | g0065 | AFR | MSL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | MSL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03130 | hp1 | a0009 | c0008 | t0011 | g0064 | AFR | ESN | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03130 | hp2 | a0001 | c0001 | t0004 | g0020 | AFR | ESN | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03453 | hp1 | a0018 | c0018 | t0010 | g0001 | AFR | MSL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03453 | hp2 | a0019 | c0017 | t0036 | g0057 | AFR | MSL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03654 | hp1 | a0010 | c0010 | t0014 | g0003 | SAS | PJL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03654 | hp2 | a0004 | c0004 | t0033 | g0008 | SAS | PJL | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0060 | SAS | STU | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03688 | hp2 | a0020 | c0021 | t0001 | g0045 | SAS | STU | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03834 | hp1 | a0001 | c0001 | t0027 | g0018 | SAS | BEB | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG03834 | hp2 | a0010 | c0010 | t0015 | g0004 | SAS | BEB | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG04115 | hp1 | a0021 | c0019 | t0009 | g0002 | SAS | STU | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| HG04115 | hp2 | a0001 | c0001 | t0026 | g0044 | SAS | STU | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18944 | hp1 | a0003 | c0003 | t0002 | g0037 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18944 | hp2 | a0001 | c0001 | t0003 | g0055 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18971 | hp2 | a0001 | c0001 | t0004 | g0051 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18983 | hp1 | a0003 | c0003 | t0002 | g0034 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18983 | hp2 | a0007 | c0005 | t0029 | g0042 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18986 | hp2 | a0001 | c0020 | t0018 | g0010 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18991 | hp1 | a0004 | c0004 | t0035 | g0006 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18994 | hp2 | a0004 | c0004 | t0034 | g0007 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19007 | hp2 | a0007 | c0005 | t0005 | g0041 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19012 | hp1 | a0006 | c0006 | t0001 | g0015 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19012 | hp2 | a0011 | c0009 | t0002 | g0032 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19057 | hp2 | a0011 | c0009 | t0002 | g0033 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19058 | hp1 | a0004 | c0004 | t0032 | g0009 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19059 | hp1 | a0003 | c0003 | t0021 | g0036 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA19059 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18955 | hp1 | a0001 | c0001 | t0006 | g0013 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA18955 | hp2 | a0007 | c0005 | t0005 | g0040 | EAS | JPT | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA20300 | hp1 | a0005 | c0007 | t0001 | g0011 | AFR | USA | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| NA20300 | hp2 | a0001 | c0001 | t0025 | g0058 | AFR | USA | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0007 | g0017 | REF | REF | POTEM_chr14_18962434_19008752 | POTEM | chr14 | 18962434 | 19008752 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:18967505 | C | T | 2 | a0012 a0015 |
2 | HG01243.hp1 HG01361.hp2 |
missense_variant | MODERATE | c.20C>T | p.Ser7Leu | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 72/6666 | 20/1527 | 7/508 | chr14 | 18967505 | |||
| chr14:18967681 | C | T | 2 | a0010 a0021 |
3 | HG03654.hp1 HG03834.hp2 HG04115.hp1 |
missense_variant | MODERATE | c.196C>T | p.Arg66Cys | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 248/6666 | 196/1527 | 66/508 | chr14 | 18967681 | |||
| chr14:18967745 | A | G | 1 | a0006 | 3 | HG02083.hp1 HG02135.hp1 NA19012.hp1 |
missense_variant | MODERATE | c.260A>G | p.Asp87Gly | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 312/6666 | 260/1527 | 87/508 | chr14 | 18967745 | |||
| chr14:18967754 | C | T | 1 | a0019 | 1 | HG03453.hp2 | missense_variant | MODERATE | c.269C>T | p.Ala90Val | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 321/6666 | 269/1527 | 90/508 | chr14 | 18967754 | |||
| chr14:18967864 | G | A | 1 | a0012 | 1 | HG01243.hp1 | missense_variant | MODERATE | c.379G>A | p.Ala127Thr | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 431/6666 | 379/1527 | 127/508 | chr14 | 18967864 | |||
| chr14:18967921 | G | A | 5 | a0008 a0009 a0010 others(2): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
missense_variant | MODERATE | c.436G>A | p.Ala146Thr | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 488/6666 | 436/1527 | 146/508 | chr14 | 18967921 | |||
| chr14:18972839 | A | G | 3 | a0008 a0009 a0010 |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
missense_variant | MODERATE | c.601A>G | p.Ile201Val | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 2/11 | 653/6666 | 601/1527 | 201/508 | chr14 | 18972839 | |||
| chr14:18973047 | A | G | 4 | a0005 a0014 a0018 others(1): Show |
6 | HG01361.hp1 HG02027.hp2 HG02293.hp2 others(3): Show |
missense_variant | MODERATE | c.650A>G | p.Gln217Arg | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/11 | 702/6666 | 650/1527 | 217/508 | chr14 | 18973047 | |||
| chr14:18973121 | G | A | 1 | a0021 | 1 | HG04115.hp1 | missense_variant | MODERATE | c.724G>A | p.Ala242Thr | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/11 | 776/6666 | 724/1527 | 242/508 | chr14 | 18973121 | |||
| chr14:18976090 | A | C | 1 | a0011 | 2 | NA19012.hp2 NA19057.hp2 |
missense_variant | MODERATE | c.852A>C | p.Lys284Asn | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/11 | 904/6666 | 852/1527 | 284/508 | chr14 | 18976090 | |||
| chr14:18976092 | A | G | 1 | a0011 | 2 | NA19012.hp2 NA19057.hp2 |
missense_variant | MODERATE | c.854A>G | p.Gln285Arg | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/11 | 906/6666 | 854/1527 | 285/508 | chr14 | 18976092 | |||
| chr14:18977471 | T | C | 15 | a0003 a0004 a0008 others(12): Show |
26 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(23): Show |
missense_variant | MODERATE | c.923T>C | p.Val308Ala | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/11 | 975/6666 | 923/1527 | 308/508 | chr14 | 18977471 | |||
| chr14:18977594 | G | A | 2 | a0004 a0017 |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
missense_variant | MODERATE | c.1046G>A | p.Arg349His | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/11 | 1098/6666 | 1046/1527 | 349/508 | chr14 | 18977594 | |||
| chr14:18980113 | A | G | 11 | a0004 a0007 a0008 others(8): Show |
19 | HG00423.hp2 HG01243.hp2 HG01255.hp2 others(16): Show |
missense_variant | MODERATE | c.1095A>G | p.Ile365Met | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/11 | 1147/6666 | 1095/1527 | 365/508 | chr14 | 18980113 | |||
| chr14:18985420 | T | C | 4 | a0004 a0009 a0017 others(1): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
missense_variant | MODERATE | c.1136T>C | p.Leu379Ser | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/11 | 1188/6666 | 1136/1527 | 379/508 | chr14 | 18985420 | |||
| chr14:18988312 | C | A | 14 | a0001 a0003 a0004 others(11): Show |
53 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(50): Show |
missense_variant | MODERATE | c.1300C>A | p.Pro434Thr | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/11 | 1352/6666 | 1300/1527 | 434/508 | chr14 | 18988312 | |||
| chr14:18988313 | C | G | 1 | a0001 | 1 | NA18986.hp2 | missense_variant | MODERATE | c.1301C>G | p.Pro434Arg | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/11 | 1353/6666 | 1301/1527 | 434/508 | chr14 | 18988313 | |||
| chr14:18997147 | A | T | 1 | a0019 | 1 | HG03453.hp2 | missense_variant | MODERATE | c.1516A>T | p.Asn506Tyr | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/11 | 1568/6666 | 1516/1527 | 506/508 | chr14 | 18997147 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:18967512 | G | A | 2 | a0012c0023 a0015c0024 |
2 | HG01243.hp1 HG01361.hp2 |
synonymous_variant | LOW | c.27G>A | p.Pro9Pro | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 79/6666 | 27/1527 | 9/508 | chr14 | 18967512 | |||
| chr14:18967563 | G | A | 1 | a0016c0011 | 1 | HG02027.hp1 | synonymous_variant | LOW | c.78G>A | p.Lys26Lys | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 130/6666 | 78/1527 | 26/508 | chr14 | 18967563 | |||
| chr14:18967593 | G | A | 1 | a0009c0008 | 2 | HG03098.hp1 HG03130.hp1 |
synonymous_variant | LOW | c.108G>A | p.Arg36Arg | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 160/6666 | 108/1527 | 36/508 | chr14 | 18967593 | |||
| chr14:18967635 | T | C | 18 | a0001c0012 a0003c0003 a0004c0004 others(15): Show |
32 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(29): Show |
synonymous_variant | LOW | c.150T>C | p.Asp50Asp | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 202/6666 | 150/1527 | 50/508 | chr14 | 18967635 | |||
| chr14:18967722 | C | T | 3 | a0010c0010 a0018c0018 a0021c0019 |
4 | HG03453.hp1 HG03654.hp1 HG03834.hp2 others(1): Show |
synonymous_variant | LOW | c.237C>T | p.Asn79Asn | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 289/6666 | 237/1527 | 79/508 | chr14 | 18967722 | |||
| chr14:18967833 | A | G | 4 | a0004c0004 a0012c0023 a0015c0024 others(1): Show |
7 | HG01243.hp1 HG01361.hp2 HG02083.hp2 others(4): Show |
synonymous_variant | LOW | c.348A>G | p.Lys116Lys | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 400/6666 | 348/1527 | 116/508 | chr14 | 18967833 | |||
| chr14:18967842 | C | T | 12 | a0004c0004 a0008c0014 a0008c0015 others(9): Show |
17 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(14): Show |
synonymous_variant | LOW | c.357C>T | p.Pro119Pro | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 409/6666 | 357/1527 | 119/508 | chr14 | 18967842 | |||
| chr14:18967863 | C | T | 1 | a0008c0015 | 1 | HG00423.hp2 | synonymous_variant | LOW | c.378C>T | p.Ser126Ser | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 430/6666 | 378/1527 | 126/508 | chr14 | 18967863 | |||
| chr14:18967914 | C | A | 6 | a0008c0014 a0008c0015 a0009c0008 others(3): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
synonymous_variant | LOW | c.429C>A | p.Leu143Leu | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 481/6666 | 429/1527 | 143/508 | chr14 | 18967914 | |||
| chr14:18972847 | C | T | 1 | a0015c0024 | 1 | HG01361.hp2 | synonymous_variant | LOW | c.609C>T | p.Asp203Asp | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 2/11 | 661/6666 | 609/1527 | 203/508 | chr14 | 18972847 | |||
| chr14:18973093 | G | A | 4 | a0001c0012 a0008c0015 a0009c0008 others(1): Show |
6 | HG00423.hp2 HG01261.hp2 HG03098.hp1 others(3): Show |
synonymous_variant | LOW | c.696G>A | p.Pro232Pro | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/11 | 748/6666 | 696/1527 | 232/508 | chr14 | 18973093 | |||
| chr14:18973195 | A | G | 1 | a0008c0015 | 1 | HG00423.hp2 | synonymous_variant | LOW | c.798A>G | p.Glu266Glu | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/11 | 850/6666 | 798/1527 | 266/508 | chr14 | 18973195 | |||
| chr14:18976108 | C | T | 14 | a0003c0003 a0004c0004 a0008c0014 others(11): Show |
24 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(21): Show |
synonymous_variant | LOW | c.870C>T | p.Phe290Phe | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/11 | 922/6666 | 870/1527 | 290/508 | chr14 | 18976108 | |||
| chr14:18985472 | C | T | 1 | a0013c0013 | 1 | HG01255.hp2 | synonymous_variant | LOW | c.1188C>T | p.Ser396Ser | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/11 | 1240/6666 | 1188/1527 | 396/508 | chr14 | 18985472 | |||
| chr14:18997065 | G | A | 2 | a0004c0004 a0017c0016 |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
synonymous_variant | LOW | c.1434G>A | p.Lys478Lys | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/11 | 1486/6666 | 1434/1527 | 478/508 | chr14 | 18997065 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:18967441 | G | A | 8 | a0008c0014t0013 a0008c0015t0008 a0009c0008t0011 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-45G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/11 | 45 | chr14 | 18967441 | ||||||
| chr14:18998681 | T | C | 1 | a0013c0013t0016 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*16T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1523 | chr14 | 18998681 | ||||||
| chr14:18998757 | G | A | 36 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(33): Show |
59 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*92G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1599 | chr14 | 18998757 | ||||||
| chr14:18998766 | C | A | 3 | a0001c0020t0018 a0002c0002t0017 a0008c0015t0008 |
3 | HG00423.hp2 HG01261.hp1 NA18986.hp2 |
3_prime_UTR_variant | MODIFIER | c.*101C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1608 | chr14 | 18998766 | ||||||
| chr14:18998795 | T | C | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*130T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1637 | chr14 | 18998795 | ||||||
| chr14:18998832 | A | G | 9 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(6): Show |
9 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*167A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1674 | chr14 | 18998832 | ||||||
| chr14:18998860 | A | G | 1 | a0002c0002t0030 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*195A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1702 | chr14 | 18998860 | ||||||
| chr14:18998914 | T | C | 12 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(9): Show |
12 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*249T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1756 | chr14 | 18998914 | ||||||
| chr14:18998992 | A | G | 11 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(8): Show |
11 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*327A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1834 | chr14 | 18998992 | ||||||
| chr14:18999043 | A | G | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*378A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1885 | chr14 | 18999043 | ||||||
| chr14:18999086 | C | T | 1 | a0002c0002t0030 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*421C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 1928 | chr14 | 18999086 | ||||||
| chr14:18999214 | G | A | 1 | a0003c0003t0020 | 1 | HG01255.hp1 | 3_prime_UTR_variant | MODIFIER | c.*549G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2056 | chr14 | 18999214 | ||||||
| chr14:18999306 | C | T | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*641C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2148 | chr14 | 18999306 | ||||||
| chr14:18999327 | G | A | 1 | a0013c0013t0016 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*662G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2169 | chr14 | 18999327 | ||||||
| chr14:18999338 | C | T | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*673C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2180 | chr14 | 18999338 | ||||||
| chr14:18999339 | G | A | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*674G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2181 | chr14 | 18999339 | ||||||
| chr14:18999397 | G | A | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*732G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2239 | chr14 | 18999397 | ||||||
| chr14:18999401 | A | G | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*736A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2243 | chr14 | 18999401 | ||||||
| chr14:18999427 | A | G | 12 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(9): Show |
12 | HG01243.hp2 HG01255.hp2 HG02027.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*762A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2269 | chr14 | 18999427 | ||||||
| chr14:18999435 | A | C | 7 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(4): Show |
7 | HG01243.hp2 HG02027.hp1 HG03654.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*770A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2277 | chr14 | 18999435 | ||||||
| chr14:18999460 | A | G | 5 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*795A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2302 | chr14 | 18999460 | ||||||
| chr14:18999464 | T | G | 33 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show |
57 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(54): Show |
3_prime_UTR_variant | MODIFIER | c.*799T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2306 | chr14 | 18999464 | ||||||
| chr14:18999484 | A | G | 12 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(9): Show |
12 | HG01243.hp2 HG01255.hp2 HG02027.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*819A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2326 | chr14 | 18999484 | ||||||
| chr14:18999495 | C | A | 3 | a0003c0003t0002 a0003c0003t0021 a0011c0009t0002 |
6 | HG02135.hp2 NA18944.hp1 NA18983.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*830C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2337 | chr14 | 18999495 | ||||||
| chr14:18999505 | C | A | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*840C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2347 | chr14 | 18999505 | ||||||
| chr14:18999518 | C | T | 5 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(2): Show |
8 | HG01255.hp1 HG01361.hp2 HG02135.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*853C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2360 | chr14 | 18999518 | ||||||
| chr14:18999581 | C | G | 14 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(11): Show |
15 | HG01243.hp2 HG01255.hp2 HG02027.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*916C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2423 | chr14 | 18999581 | ||||||
| chr14:18999587 | T | C | 14 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(11): Show |
15 | HG01243.hp2 HG01255.hp2 HG02027.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*922T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2429 | chr14 | 18999587 | ||||||
| chr14:18999597 | A | G | 15 | a0001c0001t0027 a0004c0004t0032 a0004c0004t0033 others(12): Show |
16 | HG01243.hp2 HG01255.hp2 HG02027.hp1 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*932A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2439 | chr14 | 18999597 | ||||||
| chr14:18999622 | A | G | 5 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(2): Show |
8 | HG01255.hp1 HG01361.hp2 HG02135.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*957A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2464 | chr14 | 18999622 | ||||||
| chr14:18999635 | C | G | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*970C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2477 | chr14 | 18999635 | ||||||
| chr14:18999650 | C | T | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*985C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2492 | chr14 | 18999650 | ||||||
| chr14:18999692 | C | T | 1 | a0010c0010t0015 | 1 | HG03834.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1027C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2534 | chr14 | 18999692 | ||||||
| chr14:18999706 | A | G | 1 | a0004c0004t0035 | 1 | NA18991.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1041A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2548 | chr14 | 18999706 | ||||||
| chr14:18999722 | T | C | 10 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(7): Show |
10 | HG01243.hp2 HG02027.hp1 HG02083.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1057T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2564 | chr14 | 18999722 | ||||||
| chr14:18999764 | A | G | 9 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(6): Show |
9 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*1099A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2606 | chr14 | 18999764 | ||||||
| chr14:18999829 | C | T | 1 | a0002c0002t0030 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1164C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2671 | chr14 | 18999829 | ||||||
| chr14:18999874 | A | G | 1 | a0018c0018t0010 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1209A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2716 | chr14 | 18999874 | ||||||
| chr14:18999914 | G | C | 5 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(2): Show |
8 | HG01255.hp1 HG01361.hp2 HG02135.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1249G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2756 | chr14 | 18999914 | ||||||
| chr14:18999950 | G | T | 5 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(2): Show |
8 | HG01255.hp1 HG01361.hp2 HG02135.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1285G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2792 | chr14 | 18999950 | ||||||
| chr14:18999953 | T | C | 5 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1288T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2795 | chr14 | 18999953 | ||||||
| chr14:19000002 | G | T | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1337G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2844 | chr14 | 19000002 | ||||||
| chr14:19000106 | T | C | 1 | a0002c0002t0017 | 1 | HG01261.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1441T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 2948 | chr14 | 19000106 | ||||||
| chr14:19000392 | G | A | 31 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show |
55 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*1727G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3234 | chr14 | 19000392 | ||||||
| chr14:19000395 | T | A | 1 | a0003c0003t0021 | 1 | NA19059.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1730T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3237 | chr14 | 19000395 | ||||||
| chr14:19000455 | G | A | 1 | a0013c0013t0016 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1790G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3297 | chr14 | 19000455 | ||||||
| chr14:19000457 | G | A | 14 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show |
34 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*1792G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3299 | chr14 | 19000457 | ||||||
| chr14:19000486 | G | A | 1 | a0015c0024t0028 | 1 | HG01361.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1821G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3328 | chr14 | 19000486 | ||||||
| chr14:19000487 | T | C | 8 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(5): Show |
8 | HG01243.hp2 HG01255.hp2 HG03098.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1822T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3329 | chr14 | 19000487 | ||||||
| chr14:19000559 | G | A | 1 | a0010c0010t0014 | 1 | HG03654.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1894G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3401 | chr14 | 19000559 | ||||||
| chr14:19000603 | G | A | 1 | a0012c0023t0037 | 1 | HG01243.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1938G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3445 | chr14 | 19000603 | ||||||
| chr14:19000695 | A | G | 4 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(1): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2030A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3537 | chr14 | 19000695 | ||||||
| chr14:19000695 | A | T | 3 | a0001c0020t0018 a0002c0002t0017 a0008c0015t0008 |
3 | HG00423.hp2 HG01261.hp1 NA18986.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2030A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3537 | chr14 | 19000695 | ||||||
| chr14:19000696 | C | T | 3 | a0001c0020t0018 a0002c0002t0017 a0008c0015t0008 |
3 | HG00423.hp2 HG01261.hp1 NA18986.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2031C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3538 | chr14 | 19000696 | ||||||
| chr14:19000701 | C | T | 1 | a0004c0004t0034 | 1 | NA18994.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2036C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3543 | chr14 | 19000701 | ||||||
| chr14:19000725 | T | C | 2 | a0002c0002t0030 a0008c0014t0013 |
2 | HG01243.hp2 HG01978.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2060T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3567 | chr14 | 19000725 | ||||||
| chr14:19000797 | C | T | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2132C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3639 | chr14 | 19000797 | ||||||
| chr14:19000926 | T | A | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2261T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3768 | chr14 | 19000926 | ||||||
| chr14:19000989 | G | A | 2 | a0009c0008t0011 a0009c0008t0012 |
2 | HG03098.hp1 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2324G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3831 | chr14 | 19000989 | ||||||
| chr14:19000993 | G | A | 3 | a0003c0003t0002 a0003c0003t0021 a0011c0009t0002 |
6 | HG02135.hp2 NA18944.hp1 NA18983.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2328G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3835 | chr14 | 19000993 | ||||||
| chr14:19000998 | A | G | 4 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(1): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2333A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 3840 | chr14 | 19000998 | ||||||
| chr14:19001166 | C | T | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2501C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4008 | chr14 | 19001166 | ||||||
| chr14:19001270 | T | A | 2 | a0007c0005t0005 a0007c0005t0029 |
3 | NA18955.hp2 NA18983.hp2 NA19007.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2605T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4112 | chr14 | 19001270 | ||||||
| chr14:19001275 | G | A | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2610G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4117 | chr14 | 19001275 | ||||||
| chr14:19001395 | A | G | 1 | a0018c0018t0010 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2730A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4237 | chr14 | 19001395 | ||||||
| chr14:19001462 | G | A | 1 | a0004c0004t0032 | 1 | NA19058.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2797G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4304 | chr14 | 19001462 | ||||||
| chr14:19001498 | G | A | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2833G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4340 | chr14 | 19001498 | ||||||
| chr14:19001585 | G | A | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2920G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4427 | chr14 | 19001585 | ||||||
| chr14:19001596 | C | G | 4 | a0001c0020t0018 a0002c0002t0017 a0008c0015t0008 others(1): Show |
4 | HG00423.hp2 HG01261.hp1 HG02083.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2931C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4438 | chr14 | 19001596 | ||||||
| chr14:19001618 | C | G | 2 | a0012c0023t0037 a0018c0018t0010 |
2 | HG01243.hp1 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2953C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4460 | chr14 | 19001618 | ||||||
| chr14:19001630 | G | A | 1 | a0018c0018t0010 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2965G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4472 | chr14 | 19001630 | ||||||
| chr14:19001633 | C | A | 4 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(1): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2968C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4475 | chr14 | 19001633 | ||||||
| chr14:19001638 | T | A | 1 | a0018c0018t0010 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2973T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4480 | chr14 | 19001638 | ||||||
| chr14:19001691 | C | T | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3026C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4533 | chr14 | 19001691 | ||||||
| chr14:19001693 | A | G | 1 | a0008c0014t0013 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3028A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4535 | chr14 | 19001693 | ||||||
| chr14:19001716 | T | C | 2 | a0007c0005t0005 a0007c0005t0029 |
3 | NA18955.hp2 NA18983.hp2 NA19007.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3051T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4558 | chr14 | 19001716 | ||||||
| chr14:19001720 | G | T | 1 | a0013c0013t0016 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3055G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4562 | chr14 | 19001720 | ||||||
| chr14:19001737 | A | G | 9 | a0001c0001t0004 a0004c0004t0032 a0004c0004t0033 others(6): Show |
10 | HG01255.hp2 HG02027.hp1 HG03130.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*3072A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4579 | chr14 | 19001737 | ||||||
| chr14:19001745 | A | G | 4 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(1): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*3080A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4587 | chr14 | 19001745 | ||||||
| chr14:19001805 | G | C | 1 | a0004c0004t0035 | 1 | NA18991.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3140G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4647 | chr14 | 19001805 | ||||||
| chr14:19001850 | C | T | 1 | a0008c0014t0013 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3185C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4692 | chr14 | 19001850 | ||||||
| chr14:19002102 | A | G | 8 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(5): Show |
8 | HG01255.hp2 HG02027.hp1 HG03453.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*3437A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4944 | chr14 | 19002102 | ||||||
| chr14:19002112 | C | G | 3 | a0016c0011t0019 a0019c0017t0036 a0021c0019t0009 |
3 | HG02027.hp1 HG03453.hp2 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3447C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4954 | chr14 | 19002112 | ||||||
| chr14:19002127 | T | C | 38 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(35): Show |
62 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(59): Show |
3_prime_UTR_variant | MODIFIER | c.*3462T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4969 | chr14 | 19002127 | ||||||
| chr14:19002132 | A | T | 4 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(1): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*3467A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 4974 | chr14 | 19002132 | ||||||
| chr14:19002265 | C | A | 1 | a0008c0014t0013 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3600C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5107 | chr14 | 19002265 | ||||||
| chr14:19002319 | C | G | 5 | a0003c0003t0002 a0003c0003t0020 a0003c0003t0021 others(2): Show |
8 | HG01255.hp1 HG02135.hp2 HG03098.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*3654C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5161 | chr14 | 19002319 | ||||||
| chr14:19002398 | A | C | 16 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show |
37 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(34): Show |
3_prime_UTR_variant | MODIFIER | c.*3733A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5240 | chr14 | 19002398 | ||||||
| chr14:19002414 | A | G | 5 | a0001c0020t0018 a0002c0002t0017 a0002c0002t0030 others(2): Show |
5 | HG00423.hp2 HG01261.hp1 HG01978.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3749A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5256 | chr14 | 19002414 | ||||||
| chr14:19002501 | C | A | 1 | a0013c0013t0016 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3836C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5343 | chr14 | 19002501 | ||||||
| chr14:19002528 | T | C | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3863T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5370 | chr14 | 19002528 | ||||||
| chr14:19002541 | C | T | 1 | a0001c0001t0026 | 1 | HG04115.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3876C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5383 | chr14 | 19002541 | ||||||
| chr14:19002583 | G | T | 1 | a0001c0001t0025 | 1 | NA20300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3918G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5425 | chr14 | 19002583 | ||||||
| chr14:19002585 | G | A | 1 | a0013c0013t0016 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3920G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5427 | chr14 | 19002585 | ||||||
| chr14:19002675 | A | G | 7 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(4): Show |
7 | HG01255.hp2 HG02027.hp1 HG03654.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*4010A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5517 | chr14 | 19002675 | ||||||
| chr14:19002695 | G | A | 2 | a0002c0002t0017 a0002c0002t0030 |
2 | HG01261.hp1 HG01978.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4030G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5537 | chr14 | 19002695 | ||||||
| chr14:19002747 | C | T | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4082C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5589 | chr14 | 19002747 | ||||||
| chr14:19002773 | C | T | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4108C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5615 | chr14 | 19002773 | ||||||
| chr14:19002876 | G | T | 6 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(3): Show |
6 | HG02027.hp1 HG03654.hp2 HG04115.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*4211G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5718 | chr14 | 19002876 | ||||||
| chr14:19002962 | A | G | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4297A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5804 | chr14 | 19002962 | ||||||
| chr14:19003080 | A | G | 1 | a0008c0014t0013 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4415A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 5922 | chr14 | 19003080 | ||||||
| chr14:19003217 | A | G | 2 | a0001c0001t0003 a0001c0001t0025 |
3 | HG00738.hp1 NA18944.hp2 NA20300.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4552A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6059 | chr14 | 19003217 | ||||||
| chr14:19003243 | T | C | 1 | a0019c0017t0036 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4578T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6085 | chr14 | 19003243 | ||||||
| chr14:19003266 | G | A | 14 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show |
34 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*4601G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6108 | chr14 | 19003266 | ||||||
| chr14:19003344 | A | G | 16 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show |
36 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*4679A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6186 | chr14 | 19003344 | ||||||
| chr14:19003546 | T | A | 5 | a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(2): Show |
5 | HG01243.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*4881T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6388 | chr14 | 19003546 | ||||||
| chr14:19003578 | C | T | 1 | a0008c0014t0013 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4913C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6420 | chr14 | 19003578 | ||||||
| chr14:19003617 | A | C | 1 | a0008c0014t0013 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4952A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6459 | chr14 | 19003617 | ||||||
| chr14:19003629 | T | G | 2 | a0016c0011t0019 a0021c0019t0009 |
2 | HG02027.hp1 HG04115.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4964T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6471 | chr14 | 19003629 | ||||||
| chr14:19003702 | C | T | 1 | a0014c0022t0024 | 1 | HG01361.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5037C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 11/11 | 6544 | chr14 | 19003702 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:18968032 | G | A | 5 | a0008c0015t0008g0005 a0010c0010t0014g0003 a0010c0010t0015g0004 others(2): Show |
5 | HG00423.hp2 HG03453.hp1 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+26G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968032 | |||||||
| chr14:18968070 | C | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.521+64C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968070 | |||||||
| chr14:18968097 | C | T | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+91C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968097 | |||||||
| chr14:18968098 | G | A | 4 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(1): Show |
4 | HG03654.hp2 NA18991.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+92G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968098 | |||||||
| chr14:18968117 | C | G | 2 | a0001c0012t0023g0062 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.521+111C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968117 | |||||||
| chr14:18968234 | A | G | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.521+228A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968234 | |||||||
| chr14:18968271 | T | C | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+265T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968271 | |||||||
| chr14:18968296 | T | A | 2 | a0001c0012t0023g0062 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.521+290T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968296 | |||||||
| chr14:18968323 | G | A | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+317G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968323 | |||||||
| chr14:18968418 | A | G | 10 | a0001c0012t0023g0062 a0008c0014t0013g0066 a0008c0015t0008g0005 others(7): Show |
10 | HG00423.hp2 HG01243.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+412A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968418 | |||||||
| chr14:18968514 | A | G | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.521+508A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968514 | |||||||
| chr14:18968606 | A | G | 46 | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 others(43): Show |
46 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(43): Show |
intron_variant | MODIFIER | c.521+600A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968606 | |||||||
| chr14:18968659 | A | G | 3 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0025g0058 |
3 | HG00738.hp2 HG03688.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+653A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968659 | |||||||
| chr14:18968666 | A | T | 2 | a0008c0014t0013g0066 a0019c0017t0036g0057 |
2 | HG01243.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.521+660A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968666 | |||||||
| chr14:18968685 | C | T | 1 | a0008c0014t0013g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.521+679C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968685 | |||||||
| chr14:18968690 | G | A | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.521+684G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968690 | |||||||
| chr14:18968747 | C | T | 1 | a0001c0001t0001g0030 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.521+741C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968747 | |||||||
| chr14:18968748 | G | A | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+742G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968748 | |||||||
| chr14:18968780 | G | A | 1 | a0001c0012t0023g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.521+774G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968780 | |||||||
| chr14:18968822 | C | CA | 6 | a0003c0003t0002g0031 a0004c0004t0033g0008 a0004c0004t0034g0007 others(3): Show |
6 | HG01243.hp1 HG02027.hp1 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.521+832dupA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18968822 | ||||||
| chr14:18968822 | C | CAA | 4 | a0008c0014t0013g0066 a0009c0008t0012g0065 a0015c0024t0028g0061 others(1): Show |
4 | HG01243.hp2 HG01361.hp2 HG02083.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+831_521+832dup others(2): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18968822 | ||||||
| chr14:18968822 | C | CAAA | 6 | a0008c0015t0008g0005 a0009c0008t0011g0064 a0010c0010t0014g0003 others(3): Show |
6 | HG00423.hp2 HG03130.hp1 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.521+830_521+832dup others(3): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18968822 | ||||||
| chr14:18968847 | T | C | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+841T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968847 | |||||||
| chr14:18968860 | C | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.521+854C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18968860 | |||||||
| chr14:18969017 | T | C | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+1011T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969017 | |||||||
| chr14:18969027 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.521+1021G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969027 | |||||||
| chr14:18969113 | C | T | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+1107C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969113 | |||||||
| chr14:18969136 | T | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.521+1130T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969136 | |||||||
| chr14:18969259 | C | T | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+1253C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969259 | |||||||
| chr14:18969274 | G | GAT | 2 | a0001c0012t0023g0062 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.521+1276_521+1277d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969274 | ||||||
| chr14:18969274 | GATATATA others(77): Show |
G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.521+1278_521+1361d others(86): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969274 | ||||||
| chr14:18969277 | ATATATAC others(33): Show |
A | 1 | a0010c0010t0014g0003 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.521+1278_521+1317d others(42): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969277 | ||||||
| chr14:18969277 | ATATATAC others(73): Show |
A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.521+1278_521+1357d others(82): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969277 | ||||||
| chr14:18969278 | T | C | 1 | a0001c0001t0001g0043 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.521+1272T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969278 | |||||||
| chr14:18969279 | ATATACAC others(71): Show |
A | 1 | a0001c0001t0001g0043 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.521+1278_521+1355d others(80): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969279 | ||||||
| chr14:18969280 | TATACACA others(55): Show |
T | 1 | a0008c0014t0013g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.521+1278_521+1339d others(64): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969280 | ||||||
| chr14:18969281 | ATACACAT others(47): Show |
A | 1 | a0010c0010t0015g0004 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.521+1278_521+1331d others(56): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969281 | ||||||
| chr14:18969283 | ACACATGT others(45): Show |
A | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.521+1278_521+1329d others(54): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969283 | |||||||
| chr14:18969283 | ACACATGT others(65): Show |
A | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.521+1278_521+1349d others(74): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969283 | |||||||
| chr14:18969315 | ATG | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG01361.hp2 HG02027.hp1 HG03654.hp2 others(5): Show |
intron_variant | MODIFIER | c.521+1311_521+1312d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969315 | ||||||
| chr14:18969317 | G | A | 4 | a0001c0001t0001g0048 a0001c0012t0023g0062 a0013c0013t0016g0063 others(1): Show |
4 | HG01255.hp2 HG01261.hp2 HG02083.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+1311G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969317 | |||||||
| chr14:18969317 | GTA | G | 19 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 others(16): Show |
19 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.521+1326_521+1327d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969317 | ||||||
| chr14:18969317 | GTATA | G | 5 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(2): Show |
5 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+1324_521+1327d others(6): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969317 | ||||||
| chr14:18969319 | A | G | 4 | a0001c0001t0001g0048 a0001c0012t0023g0062 a0013c0013t0016g0063 others(1): Show |
4 | HG01255.hp2 HG01261.hp2 HG02083.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+1313A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969319 | |||||||
| chr14:18969321 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG01361.hp2 HG02027.hp1 HG03654.hp2 others(5): Show |
intron_variant | MODIFIER | c.521+1315A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969321 | |||||||
| chr14:18969324 | T | C | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.521+1318T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969324 | |||||||
| chr14:18969337 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.521+1331A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969337 | |||||||
| chr14:18969339 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.521+1333A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969339 | |||||||
| chr14:18969342 | C | T | 4 | a0010c0010t0014g0003 a0010c0010t0015g0004 a0019c0017t0036g0057 others(1): Show |
4 | HG03453.hp2 HG03654.hp1 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+1336C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969342 | |||||||
| chr14:18969351 | ACATGTG | A | 2 | a0010c0010t0014g0003 a0021c0019t0009g0002 |
2 | HG03654.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.521+1346_521+1351d others(8): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969351 | |||||||
| chr14:18969352 | C | T | 3 | a0008c0014t0013g0066 a0010c0010t0015g0004 a0019c0017t0036g0057 |
3 | HG01243.hp2 HG03453.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.521+1346C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969352 | |||||||
| chr14:18969355 | G | A | 3 | a0008c0014t0013g0066 a0010c0010t0015g0004 a0019c0017t0036g0057 |
3 | HG01243.hp2 HG03453.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.521+1349G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969355 | |||||||
| chr14:18969357 | G | A | 4 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0015g0004 others(1): Show |
4 | HG00423.hp2 HG01243.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+1351G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969357 | |||||||
| chr14:18969357 | G | GTGTGTAT others(91): Show |
1 | a0016c0011t0019g0039 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.521+1352_521+1353i others(100): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTAT others(93): Show |
1 | a0011c0009t0002g0033 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.521+1352_521+1353i others(102): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTAT others(91): Show |
1 | a0011c0009t0002g0032 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.521+1352_521+1353i others(100): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(11): Show |
1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.521+1352_521+1353i others(20): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(17): Show |
1 | a0003c0003t0021g0036 | 1 | NA19059.hp1 | intron_variant | MODIFIER | c.521+1352_521+1353i others(26): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(19): Show |
1 | a0003c0003t0002g0031 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.521+1352_521+1353i others(28): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(21): Show |
1 | a0004c0004t0035g0006 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.521+1352_521+1353i others(30): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(23): Show |
2 | a0004c0004t0033g0008 a0004c0004t0034g0007 |
2 | HG03654.hp2 NA18994.hp2 |
intron_variant | MODIFIER | c.521+1352_521+1353i others(32): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(25): Show |
1 | a0004c0004t0032g0009 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.521+1352_521+1353i others(34): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(33): Show |
1 | a0003c0003t0020g0035 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.521+1352_521+1353i others(42): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | G | GTGTGTGT others(19): Show |
1 | a0003c0003t0002g0034 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.521+1352_521+1353i others(28): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969357 | GTA | G | 32 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(29): Show |
32 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(29): Show |
intron_variant | MODIFIER | c.521+1372_521+1373d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969357 | ||||||
| chr14:18969359 | A | ATATATAT others(17): Show |
3 | a0007c0005t0005g0040 a0007c0005t0005g0041 a0007c0005t0029g0042 |
3 | NA18955.hp2 NA18983.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.521+1371_521+1372i others(26): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969359 | ||||||
| chr14:18969359 | A | G | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1353A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969359 | |||||||
| chr14:18969361 | A | G | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1355A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969361 | |||||||
| chr14:18969363 | A | G | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1357A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969363 | |||||||
| chr14:18969370 | TATATATA others(3): Show |
T | 2 | a0001c0012t0023g0062 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.521+1366_521+1375d others(12): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969370 | ||||||
| chr14:18969376 | T | C | 1 | a0004c0004t0035g0006 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.521+1370T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969376 | |||||||
| chr14:18969378 | T | A | 7 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 others(4): Show |
7 | HG01243.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+1372T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969378 | |||||||
| chr14:18969378 | T | C | 4 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(1): Show |
4 | HG03654.hp2 NA18991.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+1372T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969378 | |||||||
| chr14:18969380 | C | A | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.521+1374C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969380 | |||||||
| chr14:18969380 | C | T | 15 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(12): Show |
15 | HG01243.hp2 HG01255.hp1 HG02027.hp1 others(12): Show |
intron_variant | MODIFIER | c.521+1374C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969380 | |||||||
| chr14:18969382 | C | A | 7 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 others(4): Show |
7 | HG01243.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+1376C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969382 | |||||||
| chr14:18969382 | C | T | 2 | a0003c0003t0002g0037 a0008c0015t0008g0005 |
2 | HG00423.hp2 NA18944.hp1 |
intron_variant | MODIFIER | c.521+1376C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969382 | |||||||
| chr14:18969385 | A | C | 7 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 others(4): Show |
7 | HG01243.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+1379A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969385 | |||||||
| chr14:18969385 | A | T | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1379A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969385 | |||||||
| chr14:18969388 | T | A | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1382T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969388 | |||||||
| chr14:18969390 | C | A | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1384C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969390 | |||||||
| chr14:18969390 | CT | C | 11 | a0001c0001t0001g0043 a0001c0020t0018g0010 a0004c0004t0035g0006 others(8): Show |
11 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+1396delT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18969390 | ||||||
| chr14:18969392 | T | A | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1386T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969392 | |||||||
| chr14:18969394 | T | A | 9 | a0003c0003t0002g0037 a0008c0014t0013g0066 a0008c0015t0008g0005 others(6): Show |
9 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.521+1388T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969394 | |||||||
| chr14:18969396 | T | A | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1390T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969396 | |||||||
| chr14:18969397 | TTTTTTGA others(24): Show |
T | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1392_521+1422d others(33): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969397 | |||||||
| chr14:18969429 | C | A | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.521+1423C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969429 | |||||||
| chr14:18969452 | G | A | 1 | a0001c0001t0001g0043 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.521+1446G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969452 | |||||||
| chr14:18969495 | C | T | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.521+1489C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969495 | |||||||
| chr14:18969526 | C | T | 2 | a0001c0012t0023g0062 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.521+1520C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969526 | |||||||
| chr14:18969539 | G | A | 2 | a0001c0001t0001g0043 a0001c0001t0026g0044 |
2 | HG04115.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.521+1533G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969539 | |||||||
| chr14:18969584 | A | G | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+1578A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969584 | |||||||
| chr14:18969599 | G | A | 2 | a0001c0012t0023g0062 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.521+1593G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969599 | |||||||
| chr14:18969628 | C | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.521+1622C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969628 | |||||||
| chr14:18969645 | G | A | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.521+1639G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969645 | |||||||
| chr14:18969651 | T | G | 8 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(5): Show |
8 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+1645T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969651 | |||||||
| chr14:18969661 | C | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.521+1655C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969661 | |||||||
| chr14:18969798 | A | G | 10 | a0001c0001t0001g0043 a0008c0014t0013g0066 a0008c0015t0008g0005 others(7): Show |
10 | HG00423.hp2 HG01243.hp2 HG02083.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+1792A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969798 | |||||||
| chr14:18969817 | A | G | 1 | a0003c0003t0021g0036 | 1 | NA19059.hp1 | intron_variant | MODIFIER | c.521+1811A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969817 | |||||||
| chr14:18969880 | C | A | 5 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(2): Show |
5 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+1874C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18969880 | |||||||
| chr14:18970013 | T | A | 7 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(4): Show |
7 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+2007T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970013 | |||||||
| chr14:18970015 | C | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.521+2009C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970015 | |||||||
| chr14:18970134 | AAAC | A | 3 | a0010c0010t0014g0003 a0010c0010t0015g0004 a0021c0019t0009g0002 |
3 | HG03654.hp1 HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.521+2131_521+2133d others(5): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18970134 | ||||||
| chr14:18970136 | AC | A | 3 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 |
3 | HG01243.hp2 HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.521+2131delC | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970136 | |||||||
| chr14:18970136 | ACAAAC | A | 3 | a0011c0009t0002g0032 a0011c0009t0002g0033 a0016c0011t0019g0039 |
3 | HG02027.hp1 NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.521+2131_521+2135d others(7): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970136 | |||||||
| chr14:18970141 | C | A | 7 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(4): Show |
7 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+2135C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970141 | |||||||
| chr14:18970145 | C | A | 10 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(7): Show |
10 | HG00423.hp2 HG01243.hp2 HG02027.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+2139C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970145 | |||||||
| chr14:18970150 | G | A | 3 | a0011c0009t0002g0032 a0011c0009t0002g0033 a0016c0011t0019g0039 |
3 | HG02027.hp1 NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.521+2144G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970150 | |||||||
| chr14:18970152 | A | C | 3 | a0011c0009t0002g0032 a0011c0009t0002g0033 a0016c0011t0019g0039 |
3 | HG02027.hp1 NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.521+2146A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970152 | |||||||
| chr14:18970178 | AGTTTG | A | 3 | a0011c0009t0002g0032 a0011c0009t0002g0033 a0016c0011t0019g0039 |
3 | HG02027.hp1 NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.521+2173_521+2177d others(7): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970178 | |||||||
| chr14:18970193 | A | G | 7 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(4): Show |
7 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.521+2187A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970193 | |||||||
| chr14:18970218 | T | G | 3 | a0011c0009t0002g0032 a0011c0009t0002g0033 a0016c0011t0019g0039 |
3 | HG02027.hp1 NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.521+2212T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970218 | |||||||
| chr14:18970320 | A | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.521+2314A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970320 | |||||||
| chr14:18970396 | G | T | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.522-2364G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970396 | |||||||
| chr14:18970430 | C | T | 1 | a0001c0001t0006g0029 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.522-2330C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970430 | |||||||
| chr14:18970476 | C | T | 4 | a0011c0009t0002g0032 a0011c0009t0002g0033 a0016c0011t0019g0039 others(1): Show |
4 | HG02027.hp1 HG03453.hp2 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-2284C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970476 | |||||||
| chr14:18970593 | A | T | 1 | a0003c0003t0020g0035 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.522-2167A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970593 | |||||||
| chr14:18970835 | T | C | 20 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(17): Show |
20 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(17): Show |
intron_variant | MODIFIER | c.522-1925T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970835 | |||||||
| chr14:18970853 | A | G | 1 | a0020c0021t0001g0045 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.522-1907A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970853 | |||||||
| chr14:18970864 | T | C | 11 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(8): Show |
11 | HG00423.hp2 HG01243.hp2 HG02027.hp1 others(8): Show |
intron_variant | MODIFIER | c.522-1896T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970864 | |||||||
| chr14:18970970 | A | AT | 7 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(4): Show |
7 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.522-1789dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | 18970970 | ||||||
| chr14:18970987 | G | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.522-1773G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18970987 | |||||||
| chr14:18971032 | C | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.522-1728C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971032 | |||||||
| chr14:18971053 | T | C | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.522-1707T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971053 | |||||||
| chr14:18971078 | A | G | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.522-1682A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971078 | |||||||
| chr14:18971222 | G | C | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.522-1538G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971222 | |||||||
| chr14:18971226 | C | T | 6 | a0008c0015t0008g0005 a0009c0008t0011g0064 a0009c0008t0012g0065 others(3): Show |
6 | HG00423.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-1534C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971226 | |||||||
| chr14:18971235 | C | T | 1 | a0001c0001t0001g0028 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.522-1525C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971235 | |||||||
| chr14:18971307 | A | G | 9 | a0001c0001t0001g0043 a0003c0003t0002g0031 a0003c0003t0002g0034 others(6): Show |
9 | HG01255.hp1 HG02135.hp2 HG03453.hp1 others(6): Show |
intron_variant | MODIFIER | c.522-1453A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971307 | |||||||
| chr14:18971348 | A | G | 1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.522-1412A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971348 | |||||||
| chr14:18971424 | A | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.522-1336A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971424 | |||||||
| chr14:18971501 | T | C | 4 | a0008c0015t0008g0005 a0010c0010t0014g0003 a0010c0010t0015g0004 others(1): Show |
4 | HG00423.hp2 HG03654.hp1 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-1259T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971501 | |||||||
| chr14:18971605 | A | C | 5 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(2): Show |
5 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-1155A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971605 | |||||||
| chr14:18971638 | G | A | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.522-1122G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971638 | |||||||
| chr14:18971658 | A | G | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.522-1102A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971658 | |||||||
| chr14:18971667 | G | A | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.522-1093G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971667 | |||||||
| chr14:18971729 | A | T | 1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.522-1031A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971729 | |||||||
| chr14:18971737 | A | C | 2 | a0008c0014t0013g0066 a0019c0017t0036g0057 |
2 | HG01243.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.522-1023A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971737 | |||||||
| chr14:18971744 | C | T | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.522-1016C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971744 | |||||||
| chr14:18971815 | T | G | 5 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(2): Show |
5 | HG00423.hp2 HG01243.hp2 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-945T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971815 | |||||||
| chr14:18971842 | T | C | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.522-918T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971842 | |||||||
| chr14:18971904 | G | T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-856G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971904 | |||||||
| chr14:18971916 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03654.hp2 NA18955.hp2 others(5): Show |
intron_variant | MODIFIER | c.522-844A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971916 | |||||||
| chr14:18971954 | T | C | 5 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(2): Show |
5 | HG00423.hp2 HG01243.hp2 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-806T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18971954 | |||||||
| chr14:18972052 | C | T | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-708C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972052 | |||||||
| chr14:18972095 | C | T | 5 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(2): Show |
5 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-665C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972095 | |||||||
| chr14:18972142 | G | A | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-618G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972142 | |||||||
| chr14:18972149 | A | G | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.522-611A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972149 | |||||||
| chr14:18972166 | G | A | 1 | a0010c0010t0014g0003 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.522-594G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972166 | |||||||
| chr14:18972201 | A | G | 1 | a0003c0003t0020g0035 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.522-559A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972201 | |||||||
| chr14:18972204 | A | G | 1 | a0001c0001t0001g0027 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.522-556A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972204 | |||||||
| chr14:18972302 | G | A | 5 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(2): Show |
5 | HG00423.hp2 HG01243.hp2 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-458G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972302 | |||||||
| chr14:18972326 | C | T | 4 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(1): Show |
4 | HG00423.hp2 HG01243.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-434C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972326 | |||||||
| chr14:18972407 | A | G | 1 | a0001c0001t0001g0056 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.522-353A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972407 | |||||||
| chr14:18972443 | C | T | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.522-317C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972443 | |||||||
| chr14:18972546 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.522-214G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972546 | |||||||
| chr14:18972556 | C | G | 4 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(1): Show |
4 | HG00423.hp2 HG01243.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-204C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972556 | |||||||
| chr14:18972599 | A | G | 13 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(10): Show |
13 | HG00423.hp2 HG01243.hp2 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-161A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972599 | |||||||
| chr14:18972660 | C | G | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-100C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972660 | |||||||
| chr14:18972672 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.522-88G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972672 | |||||||
| chr14:18972688 | G | A | 4 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0010c0010t0014g0003 others(1): Show |
4 | HG00423.hp2 HG01243.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-72G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972688 | |||||||
| chr14:18972698 | A | G | 8 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(5): Show |
8 | HG01261.hp1 HG01346.hp2 HG01361.hp1 others(5): Show |
intron_variant | MODIFIER | c.522-62A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972698 | |||||||
| chr14:18972724 | A | G | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.522-36A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972724 | |||||||
| chr14:18972752 | C | T | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.522-8C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | 18972752 | |||||||
| chr14:18972904 | A | G | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.636+30A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 2/10 | chr14 | 18972904 | |||||||
| chr14:18972928 | C | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.636+54C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 2/10 | chr14 | 18972928 | |||||||
| chr14:18972935 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.636+61A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 2/10 | chr14 | 18972935 | |||||||
| chr14:18973005 | G | A | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.637-29G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 2/10 | chr14 | 18973005 | |||||||
| chr14:18973260 | A | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.810+53A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973260 | |||||||
| chr14:18973297 | G | A | 1 | a0005c0007t0001g0011 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.810+90G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973297 | |||||||
| chr14:18973417 | C | T | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.810+210C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973417 | |||||||
| chr14:18973493 | A | G | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.810+286A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973493 | |||||||
| chr14:18973514 | T | C | 2 | a0011c0009t0002g0032 a0011c0009t0002g0033 |
2 | NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.810+307T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973514 | |||||||
| chr14:18973629 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.810+422A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973629 | |||||||
| chr14:18973689 | G | A | 3 | a0008c0015t0008g0005 a0010c0010t0014g0003 a0010c0010t0015g0004 |
3 | HG00423.hp2 HG03654.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.810+482G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973689 | |||||||
| chr14:18973762 | A | G | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.810+555A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973762 | |||||||
| chr14:18973800 | T | C | 10 | a0001c0001t0001g0046 a0008c0014t0013g0066 a0008c0015t0008g0005 others(7): Show |
10 | HG00423.hp2 HG01243.hp2 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.810+593T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973800 | |||||||
| chr14:18973816 | A | G | 6 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(3): Show |
6 | HG00423.hp2 HG01243.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.810+609A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973816 | |||||||
| chr14:18973835 | A | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.810+628A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973835 | |||||||
| chr14:18973902 | A | G | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.810+695A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973902 | |||||||
| chr14:18973913 | A | G | 8 | a0001c0020t0018g0010 a0003c0003t0002g0031 a0003c0003t0002g0034 others(5): Show |
8 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(5): Show |
intron_variant | MODIFIER | c.810+706A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18973913 | |||||||
| chr14:18974020 | T | A | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.810+813T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974020 | |||||||
| chr14:18974120 | C | T | 18 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(15): Show |
18 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.810+913C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974120 | |||||||
| chr14:18974142 | C | A | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.810+935C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974142 | |||||||
| chr14:18974156 | G | T | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.810+949G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974156 | |||||||
| chr14:18974250 | G | C | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.810+1043G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974250 | |||||||
| chr14:18974333 | A | T | 1 | a0001c0001t0001g0060 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.810+1126A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974333 | |||||||
| chr14:18974420 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.810+1213A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974420 | |||||||
| chr14:18974551 | C | A | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.810+1344C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974551 | |||||||
| chr14:18974649 | T | C | 9 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(6): Show |
9 | HG01361.hp1 HG02083.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.811-1400T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974649 | |||||||
| chr14:18974667 | G | C | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.811-1382G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974667 | |||||||
| chr14:18974742 | C | CT | 5 | a0002c0002t0001g0026 a0002c0002t0030g0025 a0013c0013t0016g0063 others(2): Show |
5 | HG01255.hp2 HG01361.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-1291dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18974742 | ||||||
| chr14:18974742 | C | CTTT | 4 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0010c0010t0014g0003 others(1): Show |
4 | HG03098.hp1 HG03130.hp1 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.811-1293_811-1291d others(5): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18974742 | ||||||
| chr14:18974742 | CT | C | 12 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(9): Show |
12 | HG01255.hp1 HG01361.hp2 HG02135.hp2 others(9): Show |
intron_variant | MODIFIER | c.811-1291delT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18974742 | ||||||
| chr14:18974797 | T | A | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.811-1252T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974797 | |||||||
| chr14:18974868 | T | G | 14 | a0001c0001t0001g0047 a0004c0004t0032g0009 a0004c0004t0033g0008 others(11): Show |
14 | HG00423.hp2 HG01243.hp1 HG01361.hp1 others(11): Show |
intron_variant | MODIFIER | c.811-1181T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974868 | |||||||
| chr14:18974884 | C | CTTTTTA | 4 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0035g0006 others(1): Show |
4 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(1): Show |
intron_variant | MODIFIER | c.811-1141_811-1136d others(8): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18974884 | ||||||
| chr14:18974884 | C | CTTTTTAT others(5): Show |
1 | a0004c0004t0034g0007 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.811-1147_811-1136d others(14): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18974884 | ||||||
| chr14:18974890 | A | C | 2 | a0014c0022t0024g0021 a0020c0021t0001g0045 |
2 | HG01361.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.811-1159A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974890 | |||||||
| chr14:18974896 | A | C | 2 | a0014c0022t0024g0021 a0020c0021t0001g0045 |
2 | HG01361.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.811-1153A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974896 | |||||||
| chr14:18974901 | T | A | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.811-1148T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974901 | |||||||
| chr14:18974927 | G | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.811-1122G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974927 | |||||||
| chr14:18974928 | A | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.811-1121A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974928 | |||||||
| chr14:18974931 | T | A | 2 | a0010c0010t0014g0003 a0010c0010t0015g0004 |
2 | HG03654.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.811-1118T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18974931 | |||||||
| chr14:18975017 | G | A | 5 | a0008c0015t0008g0005 a0009c0008t0011g0064 a0009c0008t0012g0065 others(2): Show |
5 | HG00423.hp2 HG03098.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-1032G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975017 | |||||||
| chr14:18975023 | G | A | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.811-1026G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975023 | |||||||
| chr14:18975032 | C | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.811-1017C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975032 | |||||||
| chr14:18975095 | CTATCAGG others(5): Show |
C | 11 | a0008c0014t0013g0066 a0008c0015t0008g0005 a0009c0008t0011g0064 others(8): Show |
11 | HG00423.hp2 HG01243.hp2 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.811-941_811-930del others(12): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18975095 | ||||||
| chr14:18975212 | G | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.811-837G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975212 | |||||||
| chr14:18975232 | T | G | 19 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(16): Show |
19 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(16): Show |
intron_variant | MODIFIER | c.811-817T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975232 | |||||||
| chr14:18975317 | A | T | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.811-732A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975317 | |||||||
| chr14:18975440 | G | A | 7 | a0008c0015t0008g0005 a0009c0008t0011g0064 a0009c0008t0012g0065 others(4): Show |
7 | HG00423.hp2 HG01361.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.811-609G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975440 | |||||||
| chr14:18975448 | G | A | 1 | a0014c0022t0024g0021 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.811-601G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975448 | |||||||
| chr14:18975469 | A | G | 8 | a0001c0020t0018g0010 a0003c0003t0002g0031 a0003c0003t0002g0034 others(5): Show |
8 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(5): Show |
intron_variant | MODIFIER | c.811-580A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975469 | |||||||
| chr14:18975510 | A | G | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.811-539A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975510 | |||||||
| chr14:18975544 | T | A | 5 | a0008c0015t0008g0005 a0009c0008t0011g0064 a0009c0008t0012g0065 others(2): Show |
5 | HG00423.hp2 HG03098.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-505T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975544 | |||||||
| chr14:18975564 | G | GCAGTGTG others(324): Show |
1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.811-472_811-471ins others(331): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18975564 | ||||||
| chr14:18975564 | G | GCAGTGTG others(323): Show |
1 | a0010c0010t0015g0004 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.811-472_811-471ins others(330): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18975564 | ||||||
| chr14:18975564 | G | GCAGTGTG others(324): Show |
1 | a0010c0010t0014g0003 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.811-472_811-471ins others(331): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18975564 | ||||||
| chr14:18975564 | G | GCAGTGTG others(326): Show |
1 | a0009c0008t0012g0065 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.811-472_811-471ins others(333): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18975564 | ||||||
| chr14:18975564 | G | GCAGTGTG others(327): Show |
1 | a0009c0008t0011g0064 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.811-472_811-471ins others(334): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18975564 | ||||||
| chr14:18975596 | A | G | 1 | a0014c0022t0024g0021 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.811-453A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975596 | |||||||
| chr14:18975652 | A | C | 1 | a0004c0004t0033g0008 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.811-397A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975652 | |||||||
| chr14:18975710 | A | G | 21 | a0001c0001t0001g0028 a0004c0004t0032g0009 a0004c0004t0033g0008 others(18): Show |
21 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.811-339A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975710 | |||||||
| chr14:18975715 | T | A | 1 | a0003c0003t0002g0037 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.811-334T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975715 | |||||||
| chr14:18975795 | A | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.811-254A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975795 | |||||||
| chr14:18975851 | G | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.811-198G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975851 | |||||||
| chr14:18975931 | C | A | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.811-118C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975931 | |||||||
| chr14:18975940 | T | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.811-109T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975940 | |||||||
| chr14:18975949 | T | A | 1 | a0002c0002t0017g0022 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.811-100T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | chr14 | 18975949 | |||||||
| chr14:18976007 | TTTTTTGA others(10): Show |
T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-35_811-19delAA others(15): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | 18976007 | ||||||
| chr14:18976186 | T | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.917+31T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976186 | |||||||
| chr14:18976200 | T | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.917+45T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976200 | |||||||
| chr14:18976257 | T | G | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.917+102T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976257 | |||||||
| chr14:18976282 | C | A | 10 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(7): Show |
10 | HG00423.hp2 HG01243.hp2 HG02083.hp2 others(7): Show |
intron_variant | MODIFIER | c.917+127C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976282 | |||||||
| chr14:18976342 | A | G | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.917+187A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976342 | |||||||
| chr14:18976385 | T | C | 25 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(22): Show |
25 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.917+230T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976385 | |||||||
| chr14:18976529 | C | A | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.917+374C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976529 | |||||||
| chr14:18976654 | G | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.917+499G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976654 | |||||||
| chr14:18976840 | T | G | 16 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(13): Show |
16 | HG01255.hp1 HG01255.hp2 HG02083.hp2 others(13): Show |
intron_variant | MODIFIER | c.918-626T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976840 | |||||||
| chr14:18976887 | G | A | 6 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(3): Show |
6 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(3): Show |
intron_variant | MODIFIER | c.918-579G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976887 | |||||||
| chr14:18976934 | T | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.918-532T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976934 | |||||||
| chr14:18976953 | T | C | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.918-513T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18976953 | |||||||
| chr14:18977037 | A | G | 4 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0013c0013t0016g0063 others(1): Show |
4 | HG01255.hp2 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.918-429A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977037 | |||||||
| chr14:18977090 | T | G | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.918-376T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977090 | |||||||
| chr14:18977127 | A | T | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.918-339A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977127 | |||||||
| chr14:18977222 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.918-244T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977222 | |||||||
| chr14:18977229 | G | A | 1 | a0001c0001t0001g0048 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.918-237G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977229 | |||||||
| chr14:18977267 | G | GT | 5 | a0001c0001t0001g0047 a0014c0022t0024g0021 a0016c0011t0019g0039 others(2): Show |
5 | HG01361.hp1 HG02027.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.918-185dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | 18977267 | ||||||
| chr14:18977267 | GT | G | 12 | a0001c0012t0023g0062 a0004c0004t0032g0009 a0004c0004t0033g0008 others(9): Show |
12 | HG01243.hp1 HG01261.hp2 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.918-185delT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | 18977267 | ||||||
| chr14:18977267 | GTT | G | 8 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(5): Show |
8 | HG00423.hp2 HG01255.hp1 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.918-186_918-185del others(2): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | 18977267 | ||||||
| chr14:18977285 | C | T | 4 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(1): Show |
4 | HG03654.hp2 NA18991.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.918-181C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977285 | |||||||
| chr14:18977294 | C | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.918-172C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977294 | |||||||
| chr14:18977396 | T | C | 1 | a0014c0022t0024g0021 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.918-70T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977396 | |||||||
| chr14:18977428 | A | C | 9 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(6): Show |
9 | HG01255.hp2 HG02083.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.918-38A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4/10 | chr14 | 18977428 | |||||||
| chr14:18977710 | G | A | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1055+107G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977710 | |||||||
| chr14:18977717 | C | T | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1055+114C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977717 | |||||||
| chr14:18977719 | T | G | 1 | a0010c0010t0015g0004 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1055+116T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977719 | |||||||
| chr14:18977729 | T | C | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1055+126T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977729 | |||||||
| chr14:18977834 | G | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1055+231G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977834 | |||||||
| chr14:18977930 | T | C | 1 | a0014c0022t0024g0021 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1055+327T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977930 | |||||||
| chr14:18977966 | G | A | 1 | a0001c0001t0025g0058 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1055+363G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18977966 | |||||||
| chr14:18978065 | G | C | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG03453.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1055+462G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978065 | |||||||
| chr14:18978137 | A | G | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1055+534A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978137 | |||||||
| chr14:18978183 | G | A | 22 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(19): Show |
22 | HG00423.hp2 HG01243.hp1 HG01255.hp1 others(19): Show |
intron_variant | MODIFIER | c.1055+580G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978183 | |||||||
| chr14:18978206 | G | C | 4 | a0001c0001t0001g0028 a0001c0001t0006g0013 a0001c0001t0006g0029 others(1): Show |
4 | HG02155.hp1 HG02293.hp2 NA18955.hp1 others(1): Show |
intron_variant | MODIFIER | c.1055+603G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978206 | |||||||
| chr14:18978273 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1055+670C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978273 | |||||||
| chr14:18978323 | G | A | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1055+720G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978323 | |||||||
| chr14:18978435 | TCTCTAGC others(24): Show |
T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1055+833_1055+863d others(33): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978435 | |||||||
| chr14:18978442 | C | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1055+839C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978442 | |||||||
| chr14:18978462 | T | C | 12 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(9): Show |
12 | HG00423.hp2 HG01255.hp1 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1055+859T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978462 | |||||||
| chr14:18978491 | CAG | C | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1055+891_1055+892d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | 18978491 | ||||||
| chr14:18978557 | G | A | 1 | a0003c0003t0002g0031 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1055+954G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978557 | |||||||
| chr14:18978560 | C | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1055+957C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978560 | |||||||
| chr14:18978688 | T | C | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1055+1085T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978688 | |||||||
| chr14:18978689 | A | G | 18 | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 others(15): Show |
18 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(15): Show |
intron_variant | MODIFIER | c.1055+1086A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978689 | |||||||
| chr14:18978782 | T | C | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1055+1179T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978782 | |||||||
| chr14:18978814 | A | C | 14 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(11): Show |
14 | HG00423.hp2 HG01243.hp2 HG01255.hp1 others(11): Show |
intron_variant | MODIFIER | c.1055+1211A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978814 | |||||||
| chr14:18978878 | T | C | 18 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(15): Show |
18 | HG00423.hp2 HG01243.hp2 HG01255.hp1 others(15): Show |
intron_variant | MODIFIER | c.1056-1196T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978878 | |||||||
| chr14:18978910 | T | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1056-1164T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978910 | |||||||
| chr14:18978915 | A | G | 1 | a0001c0001t0026g0044 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1056-1159A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18978915 | |||||||
| chr14:18979069 | A | C | 16 | a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0003g0054 others(13): Show |
16 | HG00423.hp2 HG00738.hp1 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.1056-1005A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979069 | |||||||
| chr14:18979158 | G | A | 8 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(5): Show |
8 | HG00423.hp2 HG01255.hp1 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1056-916G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979158 | |||||||
| chr14:18979191 | A | G | 18 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(15): Show |
18 | HG00423.hp2 HG01243.hp2 HG01255.hp1 others(15): Show |
intron_variant | MODIFIER | c.1056-883A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979191 | |||||||
| chr14:18979226 | A | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1056-848A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979226 | |||||||
| chr14:18979230 | G | A | 5 | a0007c0005t0005g0040 a0007c0005t0005g0041 a0007c0005t0029g0042 others(2): Show |
5 | HG03654.hp1 HG03834.hp2 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-844G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979230 | |||||||
| chr14:18979306 | A | C | 16 | a0001c0001t0001g0027 a0004c0004t0032g0009 a0004c0004t0033g0008 others(13): Show |
16 | HG01255.hp2 HG02083.hp2 HG03098.hp1 others(13): Show |
intron_variant | MODIFIER | c.1056-768A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979306 | |||||||
| chr14:18979413 | G | T | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG03098.hp1 HG03130.hp1 HG03453.hp2 others(4): Show |
intron_variant | MODIFIER | c.1056-661G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979413 | |||||||
| chr14:18979433 | C | G | 1 | a0010c0010t0015g0004 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1056-641C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979433 | |||||||
| chr14:18979499 | A | C | 5 | a0008c0014t0013g0066 a0012c0023t0037g0067 a0015c0024t0028g0061 others(2): Show |
5 | HG01243.hp1 HG01243.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-575A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979499 | |||||||
| chr14:18979682 | G | A | 4 | a0008c0015t0008g0005 a0009c0008t0011g0064 a0009c0008t0012g0065 others(1): Show |
4 | HG00423.hp2 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1056-392G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979682 | |||||||
| chr14:18979801 | G | C | 8 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(5): Show |
8 | HG01261.hp1 HG01346.hp2 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.1056-273G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979801 | |||||||
| chr14:18979818 | T | A | 6 | a0007c0005t0005g0040 a0007c0005t0005g0041 a0007c0005t0029g0042 others(3): Show |
6 | HG00423.hp2 HG03654.hp1 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-256T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979818 | |||||||
| chr14:18979854 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1056-220A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979854 | |||||||
| chr14:18979867 | A | G | 1 | a0010c0010t0015g0004 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1056-207A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979867 | |||||||
| chr14:18979873 | A | G | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-201A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979873 | |||||||
| chr14:18979935 | T | C | 3 | a0008c0014t0013g0066 a0016c0011t0019g0039 a0021c0019t0009g0002 |
3 | HG01243.hp2 HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1056-139T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979935 | |||||||
| chr14:18979969 | A | T | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1056-105A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18979969 | |||||||
| chr14:18980005 | C | T | 14 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(11): Show |
14 | HG00423.hp2 HG02083.hp2 HG03098.hp1 others(11): Show |
intron_variant | MODIFIER | c.1056-69C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | 18980005 | |||||||
| chr14:18980314 | T | A | 4 | a0001c0001t0001g0059 a0001c0001t0003g0054 a0001c0001t0003g0055 others(1): Show |
4 | HG00738.hp1 HG00738.hp2 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.1126+170T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980314 | |||||||
| chr14:18980339 | A | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1126+195A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980339 | |||||||
| chr14:18980473 | A | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1126+329A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980473 | |||||||
| chr14:18980522 | T | C | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1126+378T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980522 | |||||||
| chr14:18980542 | G | C | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+398G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980542 | |||||||
| chr14:18980578 | C | G | 28 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(25): Show |
28 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(25): Show |
intron_variant | MODIFIER | c.1126+434C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980578 | |||||||
| chr14:18980620 | G | C | 13 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(10): Show |
13 | HG00423.hp2 HG02083.hp2 HG03098.hp1 others(10): Show |
intron_variant | MODIFIER | c.1126+476G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980620 | |||||||
| chr14:18980659 | C | T | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1126+515C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980659 | |||||||
| chr14:18980660 | G | A | 4 | a0001c0001t0001g0028 a0001c0001t0006g0013 a0001c0001t0006g0029 others(1): Show |
4 | HG02155.hp1 HG02293.hp2 NA18955.hp1 others(1): Show |
intron_variant | MODIFIER | c.1126+516G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980660 | |||||||
| chr14:18980779 | C | A | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1126+635C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980779 | |||||||
| chr14:18980788 | C | T | 19 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(16): Show |
19 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(16): Show |
intron_variant | MODIFIER | c.1126+644C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980788 | |||||||
| chr14:18980794 | T | G | 1 | a0016c0011t0019g0039 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1126+650T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980794 | |||||||
| chr14:18980944 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1126+800C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980944 | |||||||
| chr14:18980967 | A | G | 1 | a0008c0014t0013g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1126+823A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18980967 | |||||||
| chr14:18981038 | A | C | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1126+894A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981038 | |||||||
| chr14:18981082 | T | C | 2 | a0012c0023t0037g0067 a0015c0024t0028g0061 |
2 | HG01243.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1126+938T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981082 | |||||||
| chr14:18981201 | C | CT | 5 | a0001c0020t0018g0010 a0007c0005t0005g0040 a0007c0005t0005g0041 others(2): Show |
5 | HG03654.hp1 NA18955.hp2 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1060dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18981201 | ||||||
| chr14:18981230 | C | T | 2 | a0009c0008t0011g0064 a0019c0017t0036g0057 |
2 | HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1126+1086C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981230 | |||||||
| chr14:18981278 | T | C | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1126+1134T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981278 | |||||||
| chr14:18981413 | T | G | 36 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0004g0051 others(33): Show |
36 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.1126+1269T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981413 | |||||||
| chr14:18981514 | A | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1126+1370A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981514 | |||||||
| chr14:18981569 | G | T | 3 | a0003c0003t0021g0036 a0008c0014t0013g0066 a0010c0010t0015g0004 |
3 | HG01243.hp2 HG03834.hp2 NA19059.hp1 |
intron_variant | MODIFIER | c.1126+1425G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981569 | |||||||
| chr14:18981658 | G | T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+1514G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981658 | |||||||
| chr14:18981665 | C | T | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1126+1521C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981665 | |||||||
| chr14:18981677 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1126+1533A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981677 | |||||||
| chr14:18981724 | G | A | 2 | a0011c0009t0002g0032 a0011c0009t0002g0033 |
2 | NA19012.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.1126+1580G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981724 | |||||||
| chr14:18981751 | T | C | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1126+1607T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981751 | |||||||
| chr14:18981796 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1126+1652T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981796 | |||||||
| chr14:18981811 | C | T | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1126+1667C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981811 | |||||||
| chr14:18981821 | T | A | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1126+1677T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981821 | |||||||
| chr14:18981833 | C | T | 9 | a0001c0001t0006g0013 a0004c0004t0032g0009 a0004c0004t0033g0008 others(6): Show |
9 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(6): Show |
intron_variant | MODIFIER | c.1126+1689C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981833 | |||||||
| chr14:18981854 | C | T | 1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1126+1710C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981854 | |||||||
| chr14:18981896 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1126+1752G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981896 | |||||||
| chr14:18981913 | G | A | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1126+1769G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981913 | |||||||
| chr14:18981955 | T | C | 12 | a0003c0003t0021g0036 a0006c0006t0001g0014 a0006c0006t0001g0015 others(9): Show |
12 | HG01243.hp2 HG02027.hp1 HG02083.hp1 others(9): Show |
intron_variant | MODIFIER | c.1126+1811T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18981955 | |||||||
| chr14:18982130 | G | A | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.1126+1986G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982130 | |||||||
| chr14:18982147 | C | A | 2 | a0001c0020t0018g0010 a0018c0018t0010g0001 |
2 | HG03453.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.1126+2003C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982147 | |||||||
| chr14:18982182 | A | G | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1126+2038A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982182 | |||||||
| chr14:18982186 | A | G | 2 | a0008c0014t0013g0066 a0021c0019t0009g0002 |
2 | HG01243.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.1126+2042A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982186 | |||||||
| chr14:18982342 | C | T | 12 | a0001c0001t0004g0051 a0003c0003t0002g0031 a0003c0003t0002g0034 others(9): Show |
12 | HG01243.hp1 HG01243.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.1126+2198C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982342 | |||||||
| chr14:18982471 | C | A | 2 | a0004c0004t0033g0008 a0017c0016t0031g0038 |
2 | HG02083.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.1126+2327C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982471 | |||||||
| chr14:18982503 | T | C | 2 | a0008c0014t0013g0066 a0021c0019t0009g0002 |
2 | HG01243.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.1126+2359T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982503 | |||||||
| chr14:18982552 | T | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1126+2408T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982552 | |||||||
| chr14:18982741 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1126+2597C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982741 | |||||||
| chr14:18982741 | CTTTGTT | C | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG01361.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+2607_1126+261 others(10): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18982741 | ||||||
| chr14:18982745 | G | GT | 3 | a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0020t0018g0010 |
3 | HG00738.hp2 NA18986.hp2 NA19059.hp2 |
intron_variant | MODIFIER | c.1126+2606dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18982745 | ||||||
| chr14:18982747 | TTTTG | T | 6 | a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0020g0035 others(3): Show |
6 | HG01255.hp1 NA18944.hp1 NA18983.hp1 others(3): Show |
intron_variant | MODIFIER | c.1126+2607_1126+261 others(8): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18982747 | ||||||
| chr14:18982749 | TTG | T | 7 | a0007c0005t0005g0040 a0007c0005t0005g0041 a0007c0005t0029g0042 others(4): Show |
7 | HG01243.hp2 HG03098.hp1 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.1126+2607_1126+260 others(6): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18982749 | ||||||
| chr14:18982751 | G | T | 4 | a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0020t0018g0010 others(1): Show |
4 | HG00738.hp2 HG01243.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.1126+2607G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982751 | |||||||
| chr14:18982798 | A | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1127-2613A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982798 | |||||||
| chr14:18982835 | G | GT | 5 | a0004c0004t0032g0009 a0004c0004t0034g0007 a0004c0004t0035g0006 others(2): Show |
5 | HG02083.hp2 HG03453.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-2566dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18982835 | ||||||
| chr14:18982846 | A | C | 11 | a0004c0004t0033g0008 a0007c0005t0005g0040 a0007c0005t0005g0041 others(8): Show |
11 | HG01243.hp1 HG01243.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.1127-2565A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982846 | |||||||
| chr14:18982921 | G | A | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1127-2490G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18982921 | |||||||
| chr14:18983190 | C | T | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1127-2221C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983190 | |||||||
| chr14:18983202 | A | G | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1127-2209A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983202 | |||||||
| chr14:18983219 | A | T | 16 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(13): Show |
16 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.1127-2192A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983219 | |||||||
| chr14:18983278 | G | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-2133G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983278 | |||||||
| chr14:18983322 | G | T | 1 | a0015c0024t0028g0061 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1127-2089G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983322 | |||||||
| chr14:18983374 | G | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-2037G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983374 | |||||||
| chr14:18983385 | C | G | 4 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(1): Show |
4 | HG03654.hp2 NA18991.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.1127-2026C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983385 | |||||||
| chr14:18983388 | G | A | 22 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(19): Show |
22 | HG01243.hp1 HG01243.hp2 HG01255.hp1 others(19): Show |
intron_variant | MODIFIER | c.1127-2023G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983388 | |||||||
| chr14:18983416 | G | A | 6 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(3): Show |
6 | HG02083.hp2 HG03453.hp2 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.1127-1995G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983416 | |||||||
| chr14:18983466 | G | A | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1127-1945G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983466 | |||||||
| chr14:18983513 | C | T | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1127-1898C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983513 | |||||||
| chr14:18983638 | G | T | 9 | a0001c0012t0023g0062 a0004c0004t0032g0009 a0004c0004t0033g0008 others(6): Show |
9 | HG01261.hp2 HG02083.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.1127-1773G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983638 | |||||||
| chr14:18983767 | G | T | 3 | a0001c0020t0018g0010 a0010c0010t0014g0003 a0010c0010t0015g0004 |
3 | HG03654.hp1 HG03834.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.1127-1644G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983767 | |||||||
| chr14:18983785 | C | T | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1127-1626C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983785 | |||||||
| chr14:18983833 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1127-1578C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983833 | |||||||
| chr14:18983847 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-1564T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983847 | |||||||
| chr14:18983868 | A | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-1543A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18983868 | |||||||
| chr14:18984042 | T | C | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1127-1369T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984042 | |||||||
| chr14:18984172 | A | G | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-1239A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984172 | |||||||
| chr14:18984210 | G | A | 20 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(17): Show |
20 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(17): Show |
intron_variant | MODIFIER | c.1127-1201G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984210 | |||||||
| chr14:18984249 | C | T | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1127-1162C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984249 | |||||||
| chr14:18984267 | C | G | 30 | a0001c0012t0023g0062 a0003c0003t0002g0031 a0003c0003t0002g0034 others(27): Show |
30 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(27): Show |
intron_variant | MODIFIER | c.1127-1144C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984267 | |||||||
| chr14:18984349 | TA | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-1061delA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984349 | |||||||
| chr14:18984407 | A | G | 3 | a0010c0010t0014g0003 a0010c0010t0015g0004 a0015c0024t0028g0061 |
3 | HG01361.hp2 HG03654.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.1127-1004A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984407 | |||||||
| chr14:18984494 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-917T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984494 | |||||||
| chr14:18984541 | C | G | 60 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(57): Show |
60 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(57): Show |
intron_variant | MODIFIER | c.1127-870C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984541 | |||||||
| chr14:18984729 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1127-682C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984729 | |||||||
| chr14:18984808 | G | T | 11 | a0001c0012t0023g0062 a0003c0003t0002g0031 a0003c0003t0002g0034 others(8): Show |
11 | HG01255.hp1 HG01261.hp2 HG02135.hp2 others(8): Show |
intron_variant | MODIFIER | c.1127-603G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984808 | |||||||
| chr14:18984865 | C | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1127-546C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984865 | |||||||
| chr14:18984866 | G | A | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1127-545G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984866 | |||||||
| chr14:18984950 | T | TA | 9 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 others(6): Show |
9 | HG02155.hp1 HG02293.hp2 HG03834.hp1 others(6): Show |
intron_variant | MODIFIER | c.1127-444dupA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18984950 | ||||||
| chr14:18984950 | TA | T | 14 | a0001c0001t0001g0056 a0001c0001t0004g0020 a0002c0002t0001g0024 others(11): Show |
14 | HG01255.hp1 HG01261.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.1127-444delA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18984950 | ||||||
| chr14:18984950 | TAA | T | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG03130.hp1 HG03453.hp2 others(4): Show |
intron_variant | MODIFIER | c.1127-445_1127-444d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | 18984950 | ||||||
| chr14:18984975 | A | T | 1 | a0007c0005t0029g0042 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1127-436A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18984975 | |||||||
| chr14:18985037 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-374A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985037 | |||||||
| chr14:18985106 | C | T | 1 | a0008c0014t0013g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1127-305C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985106 | |||||||
| chr14:18985123 | T | G | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1127-288T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985123 | |||||||
| chr14:18985155 | T | G | 3 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0005c0007t0001g0050 |
3 | HG02027.hp2 NA18991.hp2 NA18994.hp1 |
intron_variant | MODIFIER | c.1127-256T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985155 | |||||||
| chr14:18985197 | CAT | C | 2 | a0004c0004t0032g0009 a0004c0004t0035g0006 |
2 | NA18991.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.1127-213_1127-212d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985197 | |||||||
| chr14:18985273 | G | A | 10 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(7): Show |
10 | HG01243.hp1 HG02083.hp2 HG03098.hp1 others(7): Show |
intron_variant | MODIFIER | c.1127-138G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985273 | |||||||
| chr14:18985283 | A | G | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1127-128A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985283 | |||||||
| chr14:18985369 | G | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG01255.hp2 HG02083.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-42G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 6/10 | chr14 | 18985369 | |||||||
| chr14:18985517 | C | T | 1 | a0004c0004t0035g0006 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1197+36C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985517 | |||||||
| chr14:18985518 | G | GT | 9 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0060 others(6): Show |
9 | HG01361.hp1 HG02027.hp2 HG03098.hp2 others(6): Show |
intron_variant | MODIFIER | c.1197+57dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985518 | ||||||
| chr14:18985518 | G | GTTT | 6 | a0002c0002t0007g0023 a0004c0004t0034g0007 a0009c0008t0011g0064 others(3): Show |
6 | HG01346.hp2 HG02083.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.1197+55_1197+57dup others(3): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985518 | ||||||
| chr14:18985518 | G | GTTTTT | 4 | a0002c0002t0001g0026 a0002c0002t0030g0025 a0004c0004t0033g0008 others(1): Show |
4 | HG01243.hp2 HG01978.hp1 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.1197+53_1197+57dup others(5): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985518 | ||||||
| chr14:18985572 | A | G | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1197+91A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985572 | |||||||
| chr14:18985574 | C | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1197+93C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985574 | |||||||
| chr14:18985606 | C | A | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1197+125C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985606 | |||||||
| chr14:18985629 | G | T | 6 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(3): Show |
6 | HG02083.hp2 HG03453.hp2 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.1197+148G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985629 | |||||||
| chr14:18985630 | G | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1197+149G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985630 | |||||||
| chr14:18985631 | G | C | 1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1197+150G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985631 | |||||||
| chr14:18985638 | G | T | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1197+157G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985638 | |||||||
| chr14:18985701 | C | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1197+220C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985701 | |||||||
| chr14:18985754 | A | T | 9 | a0001c0001t0001g0046 a0002c0002t0001g0024 a0002c0002t0001g0026 others(6): Show |
9 | HG01261.hp1 HG01346.hp1 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.1197+273A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985754 | |||||||
| chr14:18985868 | C | T | 1 | a0001c0001t0001g0046 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1197+387C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985868 | |||||||
| chr14:18985869 | G | A | 18 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(15): Show |
18 | HG00423.hp2 HG01243.hp2 HG01261.hp1 others(15): Show |
intron_variant | MODIFIER | c.1197+388G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985869 | |||||||
| chr14:18985887 | G | A | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1197+406G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985887 | |||||||
| chr14:18985901 | G | A | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1197+420G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985901 | |||||||
| chr14:18985903 | C | CA | 12 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0056 others(9): Show |
12 | HG00738.hp1 HG02027.hp1 HG02083.hp1 others(9): Show |
intron_variant | MODIFIER | c.1197+448dupA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985903 | ||||||
| chr14:18985903 | CA | C | 6 | a0001c0012t0023g0062 a0003c0003t0002g0037 a0004c0004t0033g0008 others(3): Show |
6 | HG01261.hp2 HG03453.hp2 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.1197+448delA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985903 | ||||||
| chr14:18985903 | CAA | C | 6 | a0004c0004t0032g0009 a0004c0004t0035g0006 a0009c0008t0011g0064 others(3): Show |
6 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1197+447_1197+448d others(4): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985903 | ||||||
| chr14:18985927 | A | G | 10 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(7): Show |
10 | HG00423.hp2 HG02083.hp2 HG03098.hp1 others(7): Show |
intron_variant | MODIFIER | c.1197+446A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985927 | |||||||
| chr14:18985930 | T | A | 6 | a0001c0001t0001g0046 a0002c0002t0001g0024 a0002c0002t0001g0026 others(3): Show |
6 | HG01261.hp1 HG01346.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.1197+449T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985930 | |||||||
| chr14:18985981 | A | AAAG | 20 | a0001c0001t0001g0046 a0002c0002t0001g0024 a0002c0002t0001g0026 others(17): Show |
20 | HG01243.hp2 HG01261.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.1197+503_1197+505d others(5): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18985981 | ||||||
| chr14:18985994 | G | A | 23 | a0001c0001t0001g0046 a0002c0002t0001g0024 a0002c0002t0001g0026 others(20): Show |
23 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.1197+513G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18985994 | |||||||
| chr14:18986037 | A | G | 1 | a0008c0014t0013g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1197+556A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986037 | |||||||
| chr14:18986061 | T | A | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1197+580T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986061 | |||||||
| chr14:18986111 | T | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1197+630T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986111 | |||||||
| chr14:18986155 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1197+674T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986155 | |||||||
| chr14:18986165 | C | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1197+684C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986165 | |||||||
| chr14:18986183 | T | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1197+702T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986183 | |||||||
| chr14:18986212 | A | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1197+731A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986212 | |||||||
| chr14:18986234 | G | A | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1197+753G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986234 | |||||||
| chr14:18986333 | GTTAAAGA others(11): Show |
G | 10 | a0001c0001t0001g0046 a0002c0002t0001g0024 a0002c0002t0001g0026 others(7): Show |
10 | HG01261.hp1 HG01346.hp1 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.1198-833_1198-816d others(20): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18986333 | ||||||
| chr14:18986385 | C | T | 17 | a0001c0012t0023g0062 a0003c0003t0002g0031 a0003c0003t0002g0034 others(14): Show |
17 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.1198-784C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986385 | |||||||
| chr14:18986409 | G | A | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1198-760G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986409 | |||||||
| chr14:18986416 | A | G | 1 | a0008c0014t0013g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1198-753A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986416 | |||||||
| chr14:18986462 | G | T | 1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1198-707G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986462 | |||||||
| chr14:18986520 | A | T | 1 | a0001c0001t0001g0060 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1198-649A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986520 | |||||||
| chr14:18986613 | C | T | 1 | a0017c0016t0031g0038 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1198-556C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986613 | |||||||
| chr14:18986614 | A | G | 9 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(6): Show |
9 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(6): Show |
intron_variant | MODIFIER | c.1198-555A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986614 | |||||||
| chr14:18986636 | G | T | 10 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(7): Show |
10 | HG01261.hp1 HG01346.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1198-533G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986636 | |||||||
| chr14:18986673 | C | T | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1198-496C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986673 | |||||||
| chr14:18986678 | C | T | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1198-491C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986678 | |||||||
| chr14:18986722 | G | A | 20 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(17): Show |
20 | HG00423.hp2 HG01243.hp2 HG01261.hp1 others(17): Show |
intron_variant | MODIFIER | c.1198-447G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986722 | |||||||
| chr14:18986745 | A | G | 9 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(6): Show |
9 | HG01261.hp1 HG01346.hp2 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.1198-424A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986745 | |||||||
| chr14:18986849 | A | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1198-320A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986849 | |||||||
| chr14:18986869 | C | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1198-300C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986869 | |||||||
| chr14:18986919 | C | G | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1198-250C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986919 | |||||||
| chr14:18986969 | G | A | 8 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(5): Show |
8 | HG01261.hp1 HG01346.hp2 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.1198-200G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18986969 | |||||||
| chr14:18987018 | A | AT | 17 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(14): Show |
17 | HG01261.hp1 HG01346.hp2 HG01361.hp1 others(14): Show |
intron_variant | MODIFIER | c.1198-145dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | 18987018 | ||||||
| chr14:18987153 | G | T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1198-16G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 7/10 | chr14 | 18987153 | |||||||
| chr14:18987239 | C | T | 12 | a0001c0020t0018g0010 a0002c0002t0001g0024 a0002c0002t0001g0026 others(9): Show |
12 | HG00423.hp2 HG01261.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.1242+26C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987239 | |||||||
| chr14:18987388 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1242+175C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987388 | |||||||
| chr14:18987413 | T | A | 2 | a0014c0022t0024g0021 a0020c0021t0001g0045 |
2 | HG01361.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1242+200T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987413 | |||||||
| chr14:18987425 | A | G | 20 | a0001c0020t0018g0010 a0002c0002t0001g0024 a0002c0002t0001g0026 others(17): Show |
20 | HG01243.hp2 HG01261.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.1242+212A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987425 | |||||||
| chr14:18987435 | G | A | 10 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0007g0023 others(7): Show |
10 | HG01261.hp1 HG01346.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1242+222G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987435 | |||||||
| chr14:18987443 | C | T | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1242+230C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987443 | |||||||
| chr14:18987632 | C | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1242+419C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987632 | |||||||
| chr14:18987635 | T | A | 51 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(48): Show |
51 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(48): Show |
intron_variant | MODIFIER | c.1242+422T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987635 | |||||||
| chr14:18987658 | G | T | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1242+445G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987658 | |||||||
| chr14:18987741 | C | T | 12 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(9): Show |
12 | HG00738.hp2 HG02083.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.1243-514C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987741 | |||||||
| chr14:18987812 | C | T | 2 | a0001c0012t0023g0062 a0012c0023t0037g0067 |
2 | HG01243.hp1 HG01261.hp2 |
intron_variant | MODIFIER | c.1243-443C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987812 | |||||||
| chr14:18987838 | T | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1243-417T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987838 | |||||||
| chr14:18987883 | T | G | 20 | a0001c0012t0023g0062 a0001c0020t0018g0010 a0003c0003t0002g0031 others(17): Show |
20 | HG00423.hp2 HG01243.hp1 HG01243.hp2 others(17): Show |
intron_variant | MODIFIER | c.1243-372T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987883 | |||||||
| chr14:18987942 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1243-313A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18987942 | |||||||
| chr14:18988214 | G | A | 13 | a0001c0020t0018g0010 a0002c0002t0001g0024 a0002c0002t0001g0026 others(10): Show |
13 | HG01261.hp1 HG01361.hp1 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.1243-41G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18988214 | |||||||
| chr14:18988235 | A | G | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1243-20A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 8/10 | chr14 | 18988235 | |||||||
| chr14:18988465 | G | C | 15 | a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0004g0051 others(12): Show |
15 | HG00423.hp1 HG01243.hp2 HG02027.hp1 others(12): Show |
intron_variant | MODIFIER | c.1409+44G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988465 | |||||||
| chr14:18988585 | T | C | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1409+164T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988585 | |||||||
| chr14:18988604 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1409+183G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988604 | |||||||
| chr14:18988647 | C | T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1409+226C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988647 | |||||||
| chr14:18988712 | TG | T | 46 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(43): Show |
46 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(43): Show |
intron_variant | MODIFIER | c.1409+295delG | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | 18988712 | ||||||
| chr14:18988757 | G | A | 2 | a0014c0022t0024g0021 a0020c0021t0001g0045 |
2 | HG01361.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1409+336G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988757 | |||||||
| chr14:18988849 | C | G | 4 | a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0003g0055 others(1): Show |
4 | HG00423.hp1 HG03688.hp1 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.1409+428C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988849 | |||||||
| chr14:18988867 | T | A | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1409+446T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18988867 | |||||||
| chr14:18989056 | A | G | 4 | a0013c0013t0016g0063 a0014c0022t0024g0021 a0018c0018t0010g0001 others(1): Show |
4 | HG01255.hp2 HG01361.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1409+635A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989056 | |||||||
| chr14:18989129 | T | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1409+708T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989129 | |||||||
| chr14:18989243 | A | T | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1409+822A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989243 | |||||||
| chr14:18989404 | A | G | 4 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0017g0022 others(1): Show |
4 | HG01261.hp1 HG01978.hp1 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.1409+983A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989404 | |||||||
| chr14:18989485 | G | A | 31 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(28): Show |
31 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(28): Show |
intron_variant | MODIFIER | c.1409+1064G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989485 | |||||||
| chr14:18989568 | A | G | 2 | a0016c0011t0019g0039 a0021c0019t0009g0002 |
2 | HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1409+1147A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989568 | |||||||
| chr14:18989612 | A | G | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1409+1191A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989612 | |||||||
| chr14:18989818 | T | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+1397T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989818 | |||||||
| chr14:18989924 | T | C | 9 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(6): Show |
9 | HG01243.hp2 HG02083.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.1409+1503T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989924 | |||||||
| chr14:18989965 | T | C | 5 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0017g0022 others(2): Show |
5 | HG01255.hp2 HG01261.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.1409+1544T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989965 | |||||||
| chr14:18989983 | A | C | 1 | a0014c0022t0024g0021 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1409+1562A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989983 | |||||||
| chr14:18989983 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+1562A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18989983 | |||||||
| chr14:18990074 | A | G | 6 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(3): Show |
6 | HG02083.hp2 HG03453.hp2 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+1653A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990074 | |||||||
| chr14:18990119 | A | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1409+1698A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990119 | |||||||
| chr14:18990222 | A | G | 2 | a0016c0011t0019g0039 a0021c0019t0009g0002 |
2 | HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1409+1801A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990222 | |||||||
| chr14:18990233 | G | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1409+1812G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990233 | |||||||
| chr14:18990581 | T | C | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG03098.hp1 HG03130.hp1 HG03453.hp2 others(4): Show |
intron_variant | MODIFIER | c.1409+2160T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990581 | |||||||
| chr14:18990628 | CT | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+2208delT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990628 | |||||||
| chr14:18990656 | AT | A | 59 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(56): Show |
59 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(56): Show |
intron_variant | MODIFIER | c.1409+2242delT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | 18990656 | ||||||
| chr14:18990828 | G | C | 56 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(53): Show |
56 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(53): Show |
intron_variant | MODIFIER | c.1409+2407G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990828 | |||||||
| chr14:18990884 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+2463A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990884 | |||||||
| chr14:18990888 | C | CT | 4 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(1): Show |
4 | HG03654.hp2 NA18991.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.1409+2467_1409+246 others(5): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990888 | |||||||
| chr14:18990889 | A | AT | 44 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(41): Show |
44 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(41): Show |
intron_variant | MODIFIER | c.1409+2480dupT | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | 18990889 | ||||||
| chr14:18990889 | A | ATT | 5 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0017g0022 others(2): Show |
5 | HG01255.hp2 HG01261.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.1409+2479_1409+248 others(6): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | 18990889 | ||||||
| chr14:18990889 | A | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+2468A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990889 | |||||||
| chr14:18990972 | C | T | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1409+2551C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990972 | |||||||
| chr14:18990987 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1409+2566G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18990987 | |||||||
| chr14:18991130 | T | C | 59 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(56): Show |
59 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(56): Show |
intron_variant | MODIFIER | c.1409+2709T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991130 | |||||||
| chr14:18991131 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1409+2710G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991131 | |||||||
| chr14:18991181 | G | A | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.1409+2760G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991181 | |||||||
| chr14:18991188 | C | A | 25 | a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0017g0022 others(22): Show |
25 | HG00423.hp2 HG01255.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.1409+2767C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991188 | |||||||
| chr14:18991282 | G | C | 42 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(39): Show |
42 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.1409+2861G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991282 | |||||||
| chr14:18991301 | C | G | 42 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(39): Show |
42 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.1409+2880C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991301 | |||||||
| chr14:18991542 | C | G | 42 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(39): Show |
42 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.1409+3121C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991542 | |||||||
| chr14:18991605 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+3184A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991605 | |||||||
| chr14:18991611 | A | T | 2 | a0001c0001t0006g0013 a0001c0001t0006g0029 |
2 | HG02155.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1409+3190A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991611 | |||||||
| chr14:18991655 | T | C | 56 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(53): Show |
56 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(53): Show |
intron_variant | MODIFIER | c.1409+3234T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991655 | |||||||
| chr14:18991695 | A | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+3274A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991695 | |||||||
| chr14:18991711 | G | C | 3 | a0008c0014t0013g0066 a0016c0011t0019g0039 a0021c0019t0009g0002 |
3 | HG01243.hp2 HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1409+3290G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991711 | |||||||
| chr14:18991755 | T | C | 61 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show |
61 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.1409+3334T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991755 | |||||||
| chr14:18991759 | G | A | 52 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(49): Show |
52 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(49): Show |
intron_variant | MODIFIER | c.1409+3338G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991759 | |||||||
| chr14:18991759 | G | C | 1 | a0020c0021t0001g0045 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1409+3338G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991759 | |||||||
| chr14:18991945 | C | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+3524C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991945 | |||||||
| chr14:18991946 | G | A | 47 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(44): Show |
47 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(44): Show |
intron_variant | MODIFIER | c.1409+3525G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991946 | |||||||
| chr14:18991950 | C | A | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1409+3529C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991950 | |||||||
| chr14:18991966 | C | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+3545C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991966 | |||||||
| chr14:18991973 | T | C | 6 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(3): Show |
6 | HG02083.hp2 HG03453.hp2 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+3552T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18991973 | |||||||
| chr14:18992183 | G | C | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG02293.hp2 HG03654.hp2 others(4): Show |
intron_variant | MODIFIER | c.1409+3762G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992183 | |||||||
| chr14:18992206 | A | G | 2 | a0016c0011t0019g0039 a0021c0019t0009g0002 |
2 | HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1409+3785A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992206 | |||||||
| chr14:18992215 | A | T | 1 | a0020c0021t0001g0045 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1409+3794A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992215 | |||||||
| chr14:18992271 | T | C | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1409+3850T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992271 | |||||||
| chr14:18992367 | G | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+3946G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992367 | |||||||
| chr14:18992369 | T | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+3948T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992369 | |||||||
| chr14:18992414 | A | C | 3 | a0007c0005t0005g0040 a0007c0005t0005g0041 a0007c0005t0029g0042 |
3 | NA18955.hp2 NA18983.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.1409+3993A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992414 | |||||||
| chr14:18992425 | G | A | 6 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(3): Show |
6 | HG01255.hp2 HG02083.hp2 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+4004G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992425 | |||||||
| chr14:18992429 | C | T | 1 | a0008c0015t0008g0005 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1409+4008C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992429 | |||||||
| chr14:18992492 | G | A | 61 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show |
61 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.1409+4071G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992492 | |||||||
| chr14:18992518 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1409+4097A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992518 | |||||||
| chr14:18992519 | T | C | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.1409+4098T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992519 | |||||||
| chr14:18992606 | C | T | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1409+4185C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992606 | |||||||
| chr14:18992646 | G | A | 1 | a0011c0009t0002g0033 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1409+4225G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992646 | |||||||
| chr14:18992683 | A | G | 2 | a0016c0011t0019g0039 a0021c0019t0009g0002 |
2 | HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1409+4262A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992683 | |||||||
| chr14:18992688 | G | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+4267G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992688 | |||||||
| chr14:18992699 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1409+4278A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992699 | |||||||
| chr14:18992708 | T | G | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1409+4287T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992708 | |||||||
| chr14:18992727 | T | G | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1409+4306T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992727 | |||||||
| chr14:18992927 | T | C | 63 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(60): Show |
63 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(60): Show |
intron_variant | MODIFIER | c.1410-4114T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992927 | |||||||
| chr14:18992982 | C | T | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1410-4059C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992982 | |||||||
| chr14:18992993 | T | C | 10 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(7): Show |
10 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(7): Show |
intron_variant | MODIFIER | c.1410-4048T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18992993 | |||||||
| chr14:18993027 | G | C | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-4014G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993027 | |||||||
| chr14:18993044 | G | A | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-3997G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993044 | |||||||
| chr14:18993056 | C | G | 8 | a0001c0001t0001g0030 a0004c0004t0032g0009 a0004c0004t0033g0008 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3985C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993056 | |||||||
| chr14:18993057 | A | C | 60 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(57): Show |
60 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(57): Show |
intron_variant | MODIFIER | c.1410-3984A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993057 | |||||||
| chr14:18993068 | C | T | 1 | a0001c0020t0018g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1410-3973C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993068 | |||||||
| chr14:18993130 | C | A | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-3911C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993130 | |||||||
| chr14:18993200 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3841A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993200 | |||||||
| chr14:18993205 | C | T | 61 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show |
61 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.1410-3836C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993205 | |||||||
| chr14:18993229 | G | A | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1410-3812G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993229 | |||||||
| chr14:18993231 | G | A | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-3810G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993231 | |||||||
| chr14:18993232 | G | C | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1410-3809G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993232 | |||||||
| chr14:18993273 | G | A | 1 | a0001c0020t0018g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1410-3768G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993273 | |||||||
| chr14:18993429 | A | G | 45 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(42): Show |
45 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(42): Show |
intron_variant | MODIFIER | c.1410-3612A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993429 | |||||||
| chr14:18993447 | G | A | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-3594G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993447 | |||||||
| chr14:18993479 | C | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3562C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993479 | |||||||
| chr14:18993505 | A | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3536A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993505 | |||||||
| chr14:18993578 | A | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1410-3463A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993578 | |||||||
| chr14:18993657 | G | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3384G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993657 | |||||||
| chr14:18993757 | C | T | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1410-3284C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993757 | |||||||
| chr14:18993758 | T | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1410-3283T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993758 | |||||||
| chr14:18993787 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3254T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993787 | |||||||
| chr14:18993869 | A | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3172A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993869 | |||||||
| chr14:18993957 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3084T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18993957 | |||||||
| chr14:18994032 | C | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-3009C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994032 | |||||||
| chr14:18994121 | T | G | 39 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(36): Show |
39 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(36): Show |
intron_variant | MODIFIER | c.1410-2920T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994121 | |||||||
| chr14:18994210 | C | T | 1 | a0012c0023t0037g0067 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1410-2831C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994210 | |||||||
| chr14:18994214 | G | A | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1410-2827G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994214 | |||||||
| chr14:18994246 | C | G | 9 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(6): Show |
9 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(6): Show |
intron_variant | MODIFIER | c.1410-2795C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994246 | |||||||
| chr14:18994257 | G | A | 2 | a0018c0018t0010g0001 a0019c0017t0036g0057 |
2 | HG03453.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1410-2784G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994257 | |||||||
| chr14:18994335 | G | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2706G>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994335 | |||||||
| chr14:18994348 | T | G | 7 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(4): Show |
7 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.1410-2693T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994348 | |||||||
| chr14:18994428 | C | T | 2 | a0007c0005t0005g0040 a0007c0005t0005g0041 |
2 | NA18955.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.1410-2613C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994428 | |||||||
| chr14:18994430 | G | T | 2 | a0007c0005t0005g0040 a0007c0005t0005g0041 |
2 | NA18955.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.1410-2611G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994430 | |||||||
| chr14:18994466 | G | A | 33 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(30): Show |
33 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(30): Show |
intron_variant | MODIFIER | c.1410-2575G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994466 | |||||||
| chr14:18994473 | C | T | 10 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(7): Show |
10 | HG00423.hp2 HG01255.hp2 HG02083.hp2 others(7): Show |
intron_variant | MODIFIER | c.1410-2568C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994473 | |||||||
| chr14:18994504 | G | A | 13 | a0001c0020t0018g0010 a0002c0002t0017g0022 a0002c0002t0030g0025 others(10): Show |
13 | HG00423.hp2 HG01255.hp2 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.1410-2537G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994504 | |||||||
| chr14:18994513 | A | T | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1410-2528A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994513 | |||||||
| chr14:18994516 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2525T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994516 | |||||||
| chr14:18994545 | T | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2496T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994545 | |||||||
| chr14:18994572 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2469T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994572 | |||||||
| chr14:18994582 | C | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2459C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994582 | |||||||
| chr14:18994637 | CAT | C | 2 | a0008c0015t0008g0005 a0013c0013t0016g0063 |
2 | HG00423.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.1410-2401_1410-240 others(6): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | 18994637 | ||||||
| chr14:18994658 | G | T | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2383G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994658 | |||||||
| chr14:18994695 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2346A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994695 | |||||||
| chr14:18994751 | T | C | 4 | a0003c0003t0021g0036 a0008c0014t0013g0066 a0016c0011t0019g0039 others(1): Show |
4 | HG01243.hp2 HG02027.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.1410-2290T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994751 | |||||||
| chr14:18994832 | A | C | 58 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(55): Show |
58 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(55): Show |
intron_variant | MODIFIER | c.1410-2209A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994832 | |||||||
| chr14:18994901 | A | G | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-2140A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994901 | |||||||
| chr14:18994928 | C | T | 1 | a0013c0013t0016g0063 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1410-2113C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18994928 | |||||||
| chr14:18995076 | C | T | 33 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(30): Show |
33 | HG00738.hp2 HG01261.hp2 HG01361.hp1 others(30): Show |
intron_variant | MODIFIER | c.1410-1965C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995076 | |||||||
| chr14:18995122 | G | A | 61 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show |
61 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.1410-1919G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995122 | |||||||
| chr14:18995250 | G | A | 1 | a0001c0020t0018g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1410-1791G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995250 | |||||||
| chr14:18995276 | G | A | 13 | a0001c0020t0018g0010 a0002c0002t0017g0022 a0002c0002t0030g0025 others(10): Show |
13 | HG00423.hp2 HG01261.hp1 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.1410-1765G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995276 | |||||||
| chr14:18995340 | C | T | 39 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(36): Show |
39 | HG00423.hp2 HG00738.hp2 HG01261.hp1 others(36): Show |
intron_variant | MODIFIER | c.1410-1701C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995340 | |||||||
| chr14:18995346 | A | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-1695A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995346 | |||||||
| chr14:18995360 | T | C | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-1681T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995360 | |||||||
| chr14:18995373 | A | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1410-1668A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995373 | |||||||
| chr14:18995448 | T | G | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1410-1593T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995448 | |||||||
| chr14:18995675 | C | T | 3 | a0002c0002t0017g0022 a0002c0002t0030g0025 a0008c0015t0008g0005 |
3 | HG00423.hp2 HG01261.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.1410-1366C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995675 | |||||||
| chr14:18995719 | G | A | 60 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(57): Show |
60 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(57): Show |
intron_variant | MODIFIER | c.1410-1322G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995719 | |||||||
| chr14:18995854 | C | T | 16 | a0001c0020t0018g0010 a0002c0002t0017g0022 a0002c0002t0030g0025 others(13): Show |
16 | HG00423.hp2 HG01243.hp2 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.1410-1187C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995854 | |||||||
| chr14:18995895 | A | G | 11 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(8): Show |
11 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.1410-1146A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995895 | |||||||
| chr14:18995914 | A | G | 11 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(8): Show |
11 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.1410-1127A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995914 | |||||||
| chr14:18995982 | C | T | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-1059C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18995982 | |||||||
| chr14:18996098 | T | C | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1410-943T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996098 | |||||||
| chr14:18996132 | T | C | 15 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(12): Show |
15 | HG01255.hp1 HG01255.hp2 HG02083.hp2 others(12): Show |
intron_variant | MODIFIER | c.1410-909T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996132 | |||||||
| chr14:18996173 | T | C | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-868T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996173 | |||||||
| chr14:18996195 | G | A | 43 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(40): Show |
43 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(40): Show |
intron_variant | MODIFIER | c.1410-846G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996195 | |||||||
| chr14:18996203 | C | T | 43 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(40): Show |
43 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(40): Show |
intron_variant | MODIFIER | c.1410-838C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996203 | |||||||
| chr14:18996325 | A | G | 5 | a0001c0020t0018g0010 a0002c0002t0017g0022 a0002c0002t0030g0025 others(2): Show |
5 | HG00423.hp2 HG01261.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-716A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996325 | |||||||
| chr14:18996366 | A | C | 3 | a0008c0014t0013g0066 a0016c0011t0019g0039 a0021c0019t0009g0002 |
3 | HG01243.hp2 HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1410-675A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996366 | |||||||
| chr14:18996492 | T | A | 7 | a0003c0003t0002g0031 a0003c0003t0002g0034 a0003c0003t0002g0037 others(4): Show |
7 | HG01255.hp1 HG02135.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1410-549T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996492 | |||||||
| chr14:18996542 | G | T | 1 | a0001c0001t0001g0019 | 1 | NA19059.hp2 | intron_variant | MODIFIER | c.1410-499G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996542 | |||||||
| chr14:18996580 | G | A | 36 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(33): Show |
36 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.1410-461G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996580 | |||||||
| chr14:18996705 | A | G | 1 | a0021c0019t0009g0002 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1410-336A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996705 | |||||||
| chr14:18996716 | G | T | 55 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(52): Show |
55 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(52): Show |
intron_variant | MODIFIER | c.1410-325G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996716 | |||||||
| chr14:18996790 | A | G | 5 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 others(2): Show |
5 | HG01243.hp2 HG02027.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-251A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996790 | |||||||
| chr14:18996795 | A | G | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1410-246A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996795 | |||||||
| chr14:18996798 | T | G | 16 | a0001c0001t0001g0060 a0001c0020t0018g0010 a0002c0002t0017g0022 others(13): Show |
16 | HG00423.hp2 HG01243.hp2 HG01255.hp2 others(13): Show |
intron_variant | MODIFIER | c.1410-243T>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996798 | |||||||
| chr14:18996828 | C | G | 5 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 others(2): Show |
5 | HG01243.hp2 HG02027.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-213C>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996828 | |||||||
| chr14:18996855 | G | A | 1 | a0001c0001t0001g0019 | 1 | NA19059.hp2 | intron_variant | MODIFIER | c.1410-186G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996855 | |||||||
| chr14:18996894 | C | T | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1410-147C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996894 | |||||||
| chr14:18996984 | C | T | 1 | a0003c0003t0021g0036 | 1 | NA19059.hp1 | intron_variant | MODIFIER | c.1410-57C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 9/10 | chr14 | 18996984 | |||||||
| chr14:18997180 | G | A | 2 | a0009c0008t0011g0064 a0009c0008t0012g0065 |
2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.*1+21G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997180 | |||||||
| chr14:18997190 | G | A | 1 | a0001c0001t0001g0049 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.*1+31G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997190 | |||||||
| chr14:18997296 | G | A | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.*1+137G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997296 | |||||||
| chr14:18997305 | G | A | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.*1+146G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997305 | |||||||
| chr14:18997308 | G | T | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0019c0017t0036g0057 |
3 | HG03098.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.*1+149G>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997308 | |||||||
| chr14:18997351 | G | A | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.*1+192G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997351 | |||||||
| chr14:18997371 | G | A | 3 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0013c0013t0016g0063 |
3 | HG01255.hp2 HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.*1+212G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997371 | |||||||
| chr14:18997436 | C | A | 1 | a0019c0017t0036g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.*1+277C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997436 | |||||||
| chr14:18997488 | T | TAA | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.*1+334_*1+335dupAA | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr14 | 18997488 | ||||||
| chr14:18997488 | T | TAAA | 5 | a0008c0014t0013g0066 a0009c0008t0011g0064 a0009c0008t0012g0065 others(2): Show |
5 | HG01243.hp2 HG02027.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.*1+333_*1+335dupAA others(1): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr14 | 18997488 | ||||||
| chr14:18997796 | A | G | 10 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(7): Show |
10 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(7): Show |
intron_variant | MODIFIER | c.*1+637A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997796 | |||||||
| chr14:18997841 | T | A | 3 | a0008c0014t0013g0066 a0016c0011t0019g0039 a0021c0019t0009g0002 |
3 | HG01243.hp2 HG02027.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.*1+682T>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997841 | |||||||
| chr14:18997844 | C | A | 34 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(31): Show |
34 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(31): Show |
intron_variant | MODIFIER | c.*1+685C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18997844 | |||||||
| chr14:18998026 | G | A | 8 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(5): Show |
8 | HG02083.hp2 HG03098.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.*2-641G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998026 | |||||||
| chr14:18998096 | G | A | 2 | a0010c0010t0014g0003 a0013c0013t0016g0063 |
2 | HG01255.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.*2-571G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998096 | |||||||
| chr14:18998101 | G | A | 4 | a0009c0008t0011g0064 a0009c0008t0012g0065 a0016c0011t0019g0039 others(1): Show |
4 | HG02027.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.*2-566G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998101 | |||||||
| chr14:18998150 | A | C | 1 | a0010c0010t0014g0003 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.*2-517A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998150 | |||||||
| chr14:18998154 | C | T | 1 | a0018c0018t0010g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.*2-513C>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998154 | |||||||
| chr14:18998206 | C | A | 1 | a0001c0001t0004g0051 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.*2-461C>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998206 | |||||||
| chr14:18998261 | A | C | 9 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(6): Show |
9 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.*2-406A>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998261 | |||||||
| chr14:18998272 | T | C | 37 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(34): Show |
37 | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(34): Show |
intron_variant | MODIFIER | c.*2-395T>C | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998272 | |||||||
| chr14:18998319 | A | G | 11 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(8): Show |
11 | HG01243.hp2 HG02027.hp1 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.*2-348A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998319 | |||||||
| chr14:18998389 | A | G | 5 | a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show |
5 | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.*2-278A>G | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998389 | |||||||
| chr14:18998495 | G | A | 62 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(59): Show |
62 | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(59): Show |
intron_variant | MODIFIER | c.*2-172G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998495 | |||||||
| chr14:18998522 | G | A | 15 | a0001c0020t0018g0010 a0002c0002t0017g0022 a0004c0004t0032g0009 others(12): Show |
15 | HG00423.hp2 HG01243.hp2 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.*2-145G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998522 | |||||||
| chr14:18998608 | A | T | 1 | a0001c0001t0027g0018 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.*2-59A>T | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998608 | |||||||
| chr14:18998618 | G | A | 16 | a0001c0020t0018g0010 a0002c0002t0017g0022 a0002c0002t0030g0025 others(13): Show |
16 | HG00423.hp2 HG01243.hp2 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.*2-49G>A | POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 10/10 | chr14 | 18998618 |