Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5062 |
| ensemblid | ENSG00000180370.10 |
| hgncid | 8591 |
| symbol | PAK2 |
| name | p21 (RAC1) activated kinase 2 |
| refseq_nuc | NM_002577.4 |
| refseq_prot | NP_002568.2 |
| ensembl_nuc | ENST00000327134.7 |
| ensembl_prot | ENSP00000314067.3 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 196739857 |
| end | 196832647 |
| strand | + |
| ver | v1.2 |
| region | chr3:196739857-196832647 |
| region5000 | chr3:196734857-196837647 |
| regionname0 | PAK2_chr3_196739857_196832647 |
| regionname5000 | PAK2_chr3_196734857_196837647 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 524 | 176 | 51 | 35 | 52 | 10 | 26 | 32 | PAK2_chr3_196734857_196837647 | PAK2 | MSDNG others(519): Show |
chr3 | 196734857 | 196837647 |
| a0002 | 0/0 | 183 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | MSDNG others(178): Show |
chr3 | 196734857 | 196837647 |
| a0003 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | MSDNG others(231): Show |
chr3 | 196734857 | 196837647 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1572 | 152 | 36 | 30 | 48 | 10 | 26 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1567): Show |
chr3 | 196734857 | 196837647 | ||
| a0001c0002 | 0/0 | 1572 | 11 | 11 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1567): Show |
chr3 | 196734857 | 196837647 | ||
| a0001c0003 | 0/0 | 1572 | 9 | 0 | 5 | 4 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1567): Show |
chr3 | 196734857 | 196837647 | ||
| a0001c0004 | 0/0 | 1572 | 3 | 3 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1567): Show |
chr3 | 196734857 | 196837647 | ||
| a0001c0007 | 0/0 | 1572 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1567): Show |
chr3 | 196734857 | 196837647 | ||
| a0002c0005 | 0/0 | 1529 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1524): Show |
chr3 | 196734857 | 196837647 | ||
| a0003c0006 | 0/0 | 1601 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | ATGTC others(1596): Show |
chr3 | 196734857 | 196837647 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6139 | 29 | 1 | 4 | 18 | 1 | 5 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0002 | 0/1 | 6139 | 19 | 2 | 4 | 10 | 0 | 2 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0003 | 0/0 | 6139 | 8 | 0 | 0 | 5 | 1 | 2 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0004 | 0/0 | 6139 | 7 | 1 | 4 | 0 | 0 | 2 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0005 | 0/0 | 6139 | 4 | 3 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0006 | 0/0 | 6137 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0007 | 0/0 | 6137 | 5 | 1 | 0 | 3 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0008 | 0/0 | 6135 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6130): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0009 | 0/0 | 6139 | 4 | 0 | 0 | 0 | 0 | 4 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0010 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0011 | 0/0 | 6137 | 3 | 3 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0012 | 0/0 | 6137 | 3 | 0 | 0 | 3 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0013 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0014 | 0/0 | 6140 | 3 | 3 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6135): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0015 | 0/0 | 6139 | 3 | 0 | 0 | 0 | 2 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0016 | 0/0 | 6139 | 3 | 0 | 2 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0017 | 0/0 | 6137 | 3 | 3 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0018 | 0/0 | 6139 | 3 | 0 | 0 | 3 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0020 | 0/0 | 6139 | 2 | 2 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0021 | 0/0 | 6137 | 2 | 1 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0022 | 0/0 | 6137 | 2 | 1 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0023 | 0/0 | 6139 | 2 | 0 | 2 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0024 | 1/0 | 6139 | 2 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0025 | 0/0 | 6139 | 2 | 0 | 0 | 0 | 2 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0026 | 0/0 | 6139 | 2 | 0 | 0 | 0 | 2 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0028 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0029 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0031 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0033 | 0/0 | 6137 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0034 | 0/0 | 6137 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0035 | 0/0 | 6140 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6135): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0036 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0037 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0038 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0039 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0040 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0041 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0042 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0043 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0045 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0046 | 0/0 | 6139 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0047 | 0/0 | 6139 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0048 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0049 | 0/0 | 6139 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0050 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0051 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0052 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0053 | 0/0 | 6140 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6135): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0054 | 0/0 | 6140 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6135): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0055 | 0/0 | 6140 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6135): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0056 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0058 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0060 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0061 | 0/0 | 6137 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0062 | 0/0 | 6135 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6130): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0063 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0064 | 0/0 | 6137 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0065 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0066 | 0/0 | 6139 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0067 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0068 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0001t0069 | 0/0 | 6139 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0001 | 0/0 | 6139 | 2 | 2 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0005 | 0/0 | 6139 | 2 | 2 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0010 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0013 | 0/0 | 6139 | 2 | 2 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0030 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0032 | 0/0 | 6140 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6135): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0057 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0002t0059 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0003t0006 | 0/0 | 6137 | 5 | 0 | 5 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6132): Show |
chr3 | 196734857 | 196837647 |
| a0001c0003t0008 | 0/0 | 6135 | 4 | 0 | 0 | 4 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6130): Show |
chr3 | 196734857 | 196837647 |
| a0001c0004t0019 | 0/0 | 6139 | 2 | 2 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0004t0027 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0001c0007t0044 | 0/0 | 6139 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6134): Show |
chr3 | 196734857 | 196837647 |
| a0002c0005t0001 | 0/0 | 6096 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6091): Show |
chr3 | 196734857 | 196837647 |
| a0003c0006t0010 | 0/0 | 6168 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | GTCTT others(6163): Show |
chr3 | 196734857 | 196837647 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0073 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0002g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0003g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0004g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0005g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0005g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0005g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0005g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0006g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0007g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0007g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0007g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0007g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0007g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0008g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0009g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0009g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0009g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0009g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0010g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0011g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0011g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0011g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0012g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0012g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0012g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0013g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0014g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0014g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0014g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0015g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0015g0169 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0015g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0016g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0016g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0016g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0017g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0017g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0017g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0018g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0018g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0018g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0020g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0020g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0021g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0021g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0022g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0022g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0023g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0023g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0024g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0024g0168 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0025g0116 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0025g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0026g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0026g0099 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0028g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0029g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0031g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0033g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0034g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0035g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0036g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0037g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0038g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0039g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0040g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0041g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0042g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0043g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0045g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0046g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0047g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0048g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0049g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0050g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0051g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0052g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0053g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0054g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0055g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0056g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0058g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0060g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0061g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0062g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0063g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0064g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0065g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0066g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0067g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0068g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0001t0069g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0005g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0005g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0010g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0013g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0013g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0030g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0032g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0057g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0002t0059g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0006g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0006g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0006g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0006g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0006g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0008g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0008g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0008g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0003t0008g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0004t0019g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0004t0019g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0004t0027g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0001c0007t0044g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0002c0005t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| a0003c0006t0010g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0052 | EUR | GBR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00099 | hp2 | a0001 | c0001 | t0025 | g0121 | EUR | GBR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00280 | hp1 | a0001 | c0001 | t0003 | g0031 | EUR | FIN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00280 | hp2 | a0001 | c0001 | t0015 | g0169 | EUR | FIN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00408 | hp1 | a0001 | c0001 | t0003 | g0148 | EAS | CHS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00408 | hp2 | a0001 | c0001 | t0022 | g0021 | EAS | CHS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00544 | hp1 | a0001 | c0003 | t0008 | g0019 | EAS | CHS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | CHS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | CHS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | CHS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00639 | hp1 | a0001 | c0001 | t0043 | g0117 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00639 | hp2 | a0001 | c0001 | t0058 | g0097 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00642 | hp1 | a0001 | c0001 | t0042 | g0001 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00642 | hp2 | a0001 | c0001 | t0067 | g0055 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00738 | hp1 | a0001 | c0001 | t0023 | g0172 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG00738 | hp2 | a0001 | c0001 | t0040 | g0175 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01070 | hp1 | a0001 | c0001 | t0016 | g0110 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01070 | hp2 | a0001 | c0003 | t0006 | g0015 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01071 | hp1 | a0001 | c0001 | t0023 | g0125 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01071 | hp2 | a0001 | c0001 | t0016 | g0076 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01074 | hp1 | a0001 | c0001 | t0004 | g0123 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01074 | hp2 | a0001 | c0001 | t0065 | g0075 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0114 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01169 | hp2 | a0001 | c0001 | t0069 | g0072 | AMR | PUR | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01255 | hp1 | a0001 | c0001 | t0005 | g0059 | AMR | CLM | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01255 | hp2 | a0001 | c0001 | t0068 | g0091 | AMR | CLM | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | CLM | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0081 | AMR | CLM | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01496 | hp1 | a0001 | c0001 | t0006 | g0062 | AMR | CLM | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01496 | hp2 | a0001 | c0001 | t0004 | g0124 | AMR | CLM | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01515 | hp1 | a0001 | c0001 | t0025 | g0116 | EUR | IBS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01515 | hp2 | a0001 | c0001 | t0026 | g0098 | EUR | IBS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01517 | hp1 | a0001 | c0001 | t0026 | g0099 | EUR | IBS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01517 | hp2 | a0001 | c0001 | t0066 | g0087 | EUR | IBS | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01891 | hp1 | a0001 | c0001 | t0004 | g0029 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01891 | hp2 | a0001 | c0001 | t0022 | g0162 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01934 | hp1 | a0001 | c0003 | t0006 | g0069 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01934 | hp2 | a0001 | c0001 | t0002 | g0089 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01943 | hp1 | a0001 | c0001 | t0004 | g0118 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01943 | hp2 | a0001 | c0003 | t0006 | g0066 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01975 | hp1 | a0001 | c0001 | t0061 | g0102 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01975 | hp2 | a0001 | c0003 | t0006 | g0122 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01981 | hp1 | a0001 | c0003 | t0006 | g0067 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG01981 | hp2 | a0002 | c0005 | t0001 | g0157 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02004 | hp2 | a0001 | c0001 | t0062 | g0085 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02027 | hp1 | a0001 | c0001 | t0007 | g0132 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02027 | hp2 | a0001 | c0001 | t0012 | g0128 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02055 | hp1 | a0001 | c0001 | t0033 | g0043 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02055 | hp2 | a0001 | c0001 | t0017 | g0100 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02074 | hp2 | a0001 | c0001 | t0002 | g0090 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0082 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02083 | hp2 | a0001 | c0001 | t0024 | g0007 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0088 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0078 | EAS | KHV | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02148 | hp2 | a0001 | c0001 | t0004 | g0120 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02165 | hp1 | a0001 | c0001 | t0007 | g0165 | EAS | CDX | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | CDX | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02273 | hp2 | a0001 | c0001 | t0002 | g0080 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02280 | hp1 | a0001 | c0001 | t0011 | g0145 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02280 | hp2 | a0001 | c0001 | t0020 | g0133 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02300 | hp1 | a0001 | c0001 | t0051 | g0160 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02300 | hp2 | a0001 | c0001 | t0050 | g0147 | AMR | PEL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02451 | hp1 | a0001 | c0001 | t0063 | g0109 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02451 | hp2 | a0001 | c0002 | t0001 | g0004 | AFR | ACB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02615 | hp1 | a0001 | c0002 | t0013 | g0142 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02615 | hp2 | a0001 | c0001 | t0014 | g0178 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02622 | hp1 | a0001 | c0001 | t0017 | g0103 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02622 | hp2 | a0001 | c0002 | t0032 | g0135 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02630 | hp1 | a0001 | c0001 | t0036 | g0041 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02630 | hp2 | a0001 | c0001 | t0014 | g0177 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02647 | hp1 | a0001 | c0001 | t0007 | g0071 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02647 | hp2 | a0001 | c0004 | t0027 | g0058 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02683 | hp2 | a0001 | c0001 | t0015 | g0005 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02738 | hp1 | a0001 | c0001 | t0021 | g0159 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02738 | hp2 | a0001 | c0001 | t0028 | g0174 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02818 | hp1 | a0001 | c0001 | t0039 | g0130 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02818 | hp2 | a0001 | c0002 | t0057 | g0077 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02895 | hp1 | a0001 | c0001 | t0011 | g0137 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02895 | hp2 | a0001 | c0001 | t0053 | g0006 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02897 | hp1 | a0001 | c0002 | t0005 | g0136 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02897 | hp2 | a0001 | c0001 | t0011 | g0139 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02922 | hp1 | a0001 | c0001 | t0010 | g0140 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02922 | hp2 | a0001 | c0002 | t0010 | g0105 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02970 | hp1 | a0003 | c0006 | t0010 | g0104 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02970 | hp2 | a0001 | c0002 | t0059 | g0113 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02976 | hp1 | a0001 | c0001 | t0038 | g0060 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG02976 | hp2 | a0001 | c0001 | t0035 | g0144 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03041 | hp1 | a0001 | c0001 | t0005 | g0049 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03041 | hp2 | a0001 | c0001 | t0014 | g0176 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03130 | hp1 | a0001 | c0001 | t0005 | g0051 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03130 | hp2 | a0001 | c0002 | t0030 | g0131 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03139 | hp1 | a0001 | c0001 | t0031 | g0050 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03139 | hp2 | a0001 | c0001 | t0037 | g0053 | AFR | ESN | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03209 | hp1 | a0001 | c0002 | t0005 | g0047 | AFR | MSL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0045 | AFR | MSL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03225 | hp1 | a0001 | c0001 | t0041 | g0046 | AFR | MSL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03225 | hp2 | a0001 | c0004 | t0019 | g0057 | AFR | MSL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03453 | hp1 | a0001 | c0001 | t0029 | g0044 | AFR | MSL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03453 | hp2 | a0001 | c0001 | t0020 | g0134 | AFR | MSL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03490 | hp1 | a0001 | c0001 | t0052 | g0171 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03490 | hp2 | a0001 | c0001 | t0004 | g0037 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03492 | hp1 | a0001 | c0001 | t0056 | g0154 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03492 | hp2 | a0001 | c0001 | t0004 | g0036 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03540 | hp1 | a0001 | c0001 | t0055 | g0146 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03540 | hp2 | a0001 | c0001 | t0054 | g0161 | AFR | GWD | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03654 | hp1 | a0001 | c0001 | t0048 | g0153 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03654 | hp2 | a0001 | c0001 | t0009 | g0119 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03669 | hp2 | a0001 | c0001 | t0003 | g0158 | SAS | PJL | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0138 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03834 | hp2 | a0001 | c0001 | t0009 | g0026 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03927 | hp1 | a0001 | c0001 | t0002 | g0096 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0030 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0111 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG03942 | hp2 | a0001 | c0001 | t0003 | g0173 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0022 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG04184 | hp2 | a0001 | c0001 | t0009 | g0126 | SAS | BEB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG04199 | hp1 | a0001 | c0001 | t0007 | g0020 | SAS | STU | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG04199 | hp2 | a0001 | c0001 | t0013 | g0127 | SAS | STU | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG04228 | hp1 | a0001 | c0001 | t0009 | g0027 | SAS | STU | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| HG04228 | hp2 | a0001 | c0001 | t0064 | g0112 | SAS | STU | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18612 | hp1 | a0001 | c0001 | t0046 | g0033 | EAS | CHB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18612 | hp2 | a0001 | c0001 | t0003 | g0056 | EAS | CHB | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18906 | hp1 | a0001 | c0001 | t0017 | g0101 | AFR | YRI | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18906 | hp2 | a0001 | c0004 | t0019 | g0061 | AFR | YRI | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18940 | hp1 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18940 | hp2 | a0001 | c0001 | t0008 | g0068 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0070 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18951 | hp1 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18953 | hp2 | a0001 | c0001 | t0007 | g0164 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18954 | hp1 | a0001 | c0001 | t0018 | g0084 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18970 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18971 | hp1 | a0001 | c0003 | t0008 | g0064 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18980 | hp1 | a0001 | c0001 | t0049 | g0018 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18980 | hp2 | a0001 | c0003 | t0008 | g0065 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18983 | hp2 | a0001 | c0001 | t0012 | g0034 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18995 | hp1 | a0001 | c0001 | t0018 | g0083 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA18995 | hp2 | a0001 | c0001 | t0002 | g0095 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0151 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19002 | hp2 | a0001 | c0003 | t0008 | g0063 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19005 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19005 | hp2 | a0001 | c0001 | t0047 | g0011 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19043 | hp1 | a0001 | c0001 | t0034 | g0009 | AFR | LWK | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19043 | hp2 | a0001 | c0001 | t0002 | g0086 | AFR | LWK | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0155 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19079 | hp2 | a0001 | c0001 | t0012 | g0129 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19085 | hp2 | a0001 | c0001 | t0018 | g0108 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19240 | hp1 | a0001 | c0002 | t0001 | g0003 | AFR | YRI | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA19240 | hp2 | a0001 | c0007 | t0044 | g0054 | AFR | YRI | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20129 | hp1 | a0001 | c0002 | t0013 | g0143 | AFR | ASW | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20129 | hp2 | a0001 | c0001 | t0005 | g0048 | AFR | ASW | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20805 | hp1 | a0001 | c0001 | t0015 | g0170 | EUR | TSI | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20805 | hp2 | a0001 | c0001 | t0016 | g0074 | EUR | TSI | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20905 | hp1 | a0001 | c0001 | t0060 | g0107 | SAS | GIH | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20905 | hp2 | a0001 | c0001 | t0045 | g0025 | SAS | GIH | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20300 | hp1 | a0001 | c0001 | t0021 | g0042 | AFR | USA | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0079 | AFR | USA | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0073 | REF | REF | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0024 | g0168 | REF | REF | PAK2_chr3_196734857_196837647 | PAK2 | chr3 | 196734857 | 196837647 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:196806576 | C | CAGCTGAA others(14): Show |
1 | a0001 | 1 | HG02970.hp2 | disruptive_inframe_insertion | MODERATE | c.469-1_488dupGCTGAA others(15): Show |
p.Glu163_Ala164insLe others(19): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/15 | 811/6139 | 489/1575 | 163/524 | INFO_REALIGN_3_PRIME | chr3 | 196806576 | ||
| chr3:196806643 | CTGCTCCT others(39): Show |
C | 1 | a0002 | 1 | HG01981.hp2 | frameshift_variant&splice_donor_variant&splice_region_variant&intron_variant | HIGH | c.534_576+3delTGCTCC others(40): Show |
p.Ala179fs | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/15 | 856/6139 | 534/1575 | 178/524 | chr3 | 196806643 | |||
| chr3:196807860 | G | GACAAACA others(22): Show |
1 | a0003 | 1 | HG02970.hp1 | frameshift_variant&stop_gained | HIGH | c.656_684dupACAAACAG others(21): Show |
p.Asp229fs | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/15 | 1007/6139 | 685/1575 | 229/524 | INFO_REALIGN_3_PRIME | chr3 | 196807860 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:196782769 | C | T | 1 | a0001c0004 | 3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
synonymous_variant | LOW | c.123C>T | p.Pro41Pro | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/15 | 445/6139 | 123/1575 | 41/524 | chr3 | 196782769 | |||
| chr3:196807787 | C | T | 1 | a0001c0007 | 1 | NA19240.hp2 | synonymous_variant | LOW | c.582C>T | p.Tyr194Tyr | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/15 | 904/6139 | 582/1575 | 194/524 | chr3 | 196807787 | |||
| chr3:196807835 | T | C | 1 | a0001c0003 | 9 | HG00544.hp1 HG01070.hp2 HG01934.hp1 others(6): Show |
synonymous_variant | LOW | c.630T>C | p.His210His | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/15 | 952/6139 | 630/1575 | 210/524 | chr3 | 196807835 | |||
| chr3:196818077 | T | C | 2 | a0001c0002 a0003c0006 |
12 | HG02451.hp2 HG02615.hp1 HG02622.hp2 others(9): Show |
synonymous_variant | LOW | c.1074T>C | p.Phe358Phe | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/15 | 1396/6139 | 1074/1575 | 358/524 | chr3 | 196818077 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:196739928 | T | C | 2 | a0001c0004t0019 a0001c0004t0027 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
5_prime_UTR_variant | MODIFIER | c.-251T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/15 | 42719 | chr3 | 196739928 | ||||||
| chr3:196740003 | G | T | 18 | a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 others(15): Show |
42 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(39): Show |
5_prime_UTR_variant | MODIFIER | c.-176G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/15 | 42644 | chr3 | 196740003 | ||||||
| chr3:196740151 | G | T | 1 | a0001c0001t0056 | 1 | HG03492.hp1 | 5_prime_UTR_variant | MODIFIER | c.-28G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/15 | 42496 | chr3 | 196740151 | ||||||
| chr3:196828476 | A | G | 1 | a0001c0001t0069 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*71A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 71 | chr3 | 196828476 | ||||||
| chr3:196828479 | C | T | 1 | a0001c0001t0018 | 3 | NA18954.hp1 NA18995.hp1 NA19085.hp2 |
3_prime_UTR_variant | MODIFIER | c.*74C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 74 | chr3 | 196828479 | ||||||
| chr3:196828527 | A | G | 4 | a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 others(1): Show |
5 | HG02895.hp2 HG03225.hp2 HG03540.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*122A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 122 | chr3 | 196828527 | ||||||
| chr3:196828551 | C | G | 4 | a0001c0001t0015 a0001c0001t0025 a0001c0001t0051 others(1): Show |
7 | HG00099.hp2 HG00280.hp2 HG01515.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*146C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 146 | chr3 | 196828551 | ||||||
| chr3:196828572 | C | A | 24 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(21): Show |
44 | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*167C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 167 | chr3 | 196828572 | ||||||
| chr3:196828611 | G | A | 21 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(18): Show |
35 | HG00544.hp1 HG00639.hp2 HG01070.hp1 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*206G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 206 | chr3 | 196828611 | ||||||
| chr3:196828829 | C | T | 5 | a0001c0001t0015 a0001c0001t0025 a0001c0001t0050 others(2): Show |
8 | HG00099.hp2 HG00280.hp2 HG01515.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*424C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 424 | chr3 | 196828829 | ||||||
| chr3:196829087 | C | T | 2 | a0001c0001t0036 a0001c0001t0037 |
2 | HG02630.hp1 HG03139.hp2 |
3_prime_UTR_variant | MODIFIER | c.*682C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 682 | chr3 | 196829087 | ||||||
| chr3:196829190 | T | C | 2 | a0001c0001t0036 a0001c0001t0038 |
2 | HG02630.hp1 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*785T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 785 | chr3 | 196829190 | ||||||
| chr3:196829221 | C | T | 6 | a0001c0001t0020 a0001c0001t0033 a0001c0001t0034 others(3): Show |
7 | HG01975.hp1 HG02055.hp1 HG02280.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*816C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 816 | chr3 | 196829221 | ||||||
| chr3:196829250 | G | C | 1 | a0001c0001t0025 | 2 | HG00099.hp2 HG01515.hp1 |
3_prime_UTR_variant | MODIFIER | c.*845G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 845 | chr3 | 196829250 | ||||||
| chr3:196829270 | G | A | 20 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(17): Show |
31 | HG00544.hp1 HG00639.hp2 HG00738.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*865G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 865 | chr3 | 196829270 | ||||||
| chr3:196829373 | C | T | 2 | a0001c0001t0061 a0001c0001t0068 |
2 | HG01255.hp2 HG01975.hp1 |
3_prime_UTR_variant | MODIFIER | c.*968C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 968 | chr3 | 196829373 | ||||||
| chr3:196829386 | CCT | C | 6 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(3): Show |
15 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*987_*988delTC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 987 | INFO_REALIGN_3_PRIME | chr3 | 196829386 | |||||
| chr3:196829442 | T | C | 1 | a0001c0002t0032 | 1 | HG02622.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1037T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1037 | chr3 | 196829442 | ||||||
| chr3:196829455 | A | T | 6 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(3): Show |
15 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1050A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1050 | chr3 | 196829455 | ||||||
| chr3:196829510 | G | A | 6 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(3): Show |
15 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1105G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1105 | chr3 | 196829510 | ||||||
| chr3:196829601 | G | A | 1 | a0001c0001t0037 | 1 | HG03139.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1196G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1196 | chr3 | 196829601 | ||||||
| chr3:196829612 | G | A | 28 | a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(25): Show |
50 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(47): Show |
3_prime_UTR_variant | MODIFIER | c.*1207G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1207 | chr3 | 196829612 | ||||||
| chr3:196829655 | G | C | 1 | a0001c0001t0045 | 1 | NA20905.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1250G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1250 | chr3 | 196829655 | ||||||
| chr3:196829688 | C | T | 1 | a0001c0001t0052 | 1 | HG03490.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1283C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1283 | chr3 | 196829688 | ||||||
| chr3:196829749 | T | A | 2 | a0001c0001t0008 a0001c0003t0008 |
5 | HG00544.hp1 NA18940.hp2 NA18971.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1344T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1344 | chr3 | 196829749 | ||||||
| chr3:196829938 | T | C | 60 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(57): Show |
140 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(137): Show |
3_prime_UTR_variant | MODIFIER | c.*1533T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1533 | chr3 | 196829938 | ||||||
| chr3:196829941 | T | C | 1 | a0001c0002t0030 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1536T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1536 | chr3 | 196829941 | ||||||
| chr3:196829972 | G | A | 38 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show |
110 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(107): Show |
3_prime_UTR_variant | MODIFIER | c.*1567G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1567 | chr3 | 196829972 | ||||||
| chr3:196830108 | A | G | 1 | a0001c0007t0044 | 1 | NA19240.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1703A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 1703 | chr3 | 196830108 | ||||||
| chr3:196830482 | CTG | C | 12 | a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(9): Show |
25 | HG00408.hp2 HG00544.hp1 HG01891.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*2080_*2081delTG | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 2080 | INFO_REALIGN_3_PRIME | chr3 | 196830482 | |||||
| chr3:196830709 | G | A | 1 | a0001c0001t0039 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2304G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 2304 | chr3 | 196830709 | ||||||
| chr3:196830835 | A | C | 4 | a0001c0001t0035 a0001c0001t0053 a0001c0001t0055 others(1): Show |
4 | HG02622.hp2 HG02895.hp2 HG02976.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2430A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 2430 | chr3 | 196830835 | ||||||
| chr3:196830844 | A | G | 2 | a0001c0001t0008 a0001c0003t0008 |
5 | HG00544.hp1 NA18940.hp2 NA18971.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2439A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 2439 | chr3 | 196830844 | ||||||
| chr3:196830896 | A | AT | 6 | a0001c0001t0014 a0001c0001t0035 a0001c0001t0053 others(3): Show |
8 | HG02615.hp2 HG02622.hp2 HG02630.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2499dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 2500 | INFO_REALIGN_3_PRIME | chr3 | 196830896 | |||||
| chr3:196831070 | T | C | 1 | a0001c0001t0046 | 1 | NA18612.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2665T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 2665 | chr3 | 196831070 | ||||||
| chr3:196831457 | A | G | 14 | a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(11): Show |
27 | HG00408.hp2 HG00544.hp1 HG01891.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*3052A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 3052 | chr3 | 196831457 | ||||||
| chr3:196831629 | C | G | 2 | a0001c0001t0034 a0001c0004t0019 |
3 | HG03225.hp2 NA18906.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3224C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 3224 | chr3 | 196831629 | ||||||
| chr3:196831966 | T | A | 1 | a0001c0001t0014 | 3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3561T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 3561 | chr3 | 196831966 | ||||||
| chr3:196832078 | A | G | 16 | a0001c0001t0010 a0001c0001t0013 a0001c0001t0028 others(13): Show |
18 | HG00639.hp1 HG01255.hp2 HG02615.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*3673A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 3673 | chr3 | 196832078 | ||||||
| chr3:196832251 | G | A | 1 | a0001c0001t0046 | 1 | NA18612.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3846G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 3846 | chr3 | 196832251 | ||||||
| chr3:196832263 | A | G | 1 | a0001c0001t0043 | 1 | HG00639.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3858A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 3858 | chr3 | 196832263 | ||||||
| chr3:196832491 | G | A | 1 | a0001c0001t0047 | 1 | NA19005.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4086G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 15/15 | 4086 | chr3 | 196832491 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:196740204 | T | A | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+47T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740204 | |||||||
| chr3:196740205 | C | A | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+48C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740205 | |||||||
| chr3:196740395 | G | C | 113 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.-22+238G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740395 | |||||||
| chr3:196740442 | A | T | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-22+285A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740442 | |||||||
| chr3:196740467 | C | T | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.-22+310C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740467 | |||||||
| chr3:196740647 | G | C | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+490G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740647 | |||||||
| chr3:196740732 | T | G | 113 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.-22+575T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740732 | |||||||
| chr3:196740785 | A | G | 1 | a0001c0003t0006g0069 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.-22+628A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740785 | |||||||
| chr3:196740851 | AAC | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+699_-22+700del others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196740851 | ||||||
| chr3:196740946 | G | A | 1 | a0001c0001t0001g0115 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.-22+789G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196740946 | |||||||
| chr3:196741023 | G | T | 77 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(74): Show |
77 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.-22+866G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741023 | |||||||
| chr3:196741085 | G | A | 1 | a0001c0001t0006g0062 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.-22+928G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741085 | |||||||
| chr3:196741103 | C | T | 1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-22+946C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741103 | |||||||
| chr3:196741105 | T | C | 1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.-22+948T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741105 | |||||||
| chr3:196741126 | C | A | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-22+969C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741126 | |||||||
| chr3:196741272 | A | G | 113 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.-22+1115A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741272 | |||||||
| chr3:196741311 | G | A | 78 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(75): Show |
78 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.-22+1154G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741311 | |||||||
| chr3:196741640 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+1483A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196741640 | |||||||
| chr3:196741831 | T | TA | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0053g0006 others(6): Show |
9 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(6): Show |
intron_variant | MODIFIER | c.-22+1675dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196741831 | ||||||
| chr3:196742054 | A | G | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+1897A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742054 | |||||||
| chr3:196742099 | C | CT | 11 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(8): Show |
11 | HG02451.hp2 HG02738.hp2 HG03041.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22+1960dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196742099 | ||||||
| chr3:196742099 | C | CTT | 62 | a0001c0001t0001g0052 a0001c0001t0002g0070 a0001c0001t0002g0078 others(59): Show |
62 | HG00099.hp1 HG00639.hp2 HG00642.hp2 others(59): Show |
intron_variant | MODIFIER | c.-22+1959_-22+1960d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196742099 | ||||||
| chr3:196742099 | CT | C | 8 | a0001c0001t0007g0071 a0001c0001t0014g0176 a0001c0001t0014g0177 others(5): Show |
8 | HG00639.hp1 HG01515.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+1960delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196742099 | ||||||
| chr3:196742169 | A | G | 1 | a0001c0001t0002g0114 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-22+2012A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742169 | |||||||
| chr3:196742294 | GT | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+2139delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196742294 | ||||||
| chr3:196742555 | T | A | 1 | a0001c0001t0001g0008 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-22+2398T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742555 | |||||||
| chr3:196742556 | A | T | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+2399A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742556 | |||||||
| chr3:196742558 | A | T | 1 | a0001c0001t0003g0173 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-22+2401A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742558 | |||||||
| chr3:196742639 | G | C | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+2482G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742639 | |||||||
| chr3:196742643 | G | C | 13 | a0001c0001t0001g0052 a0001c0001t0006g0062 a0001c0001t0008g0068 others(10): Show |
13 | HG00099.hp1 HG01496.hp1 HG01934.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+2486G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742643 | |||||||
| chr3:196742675 | G | A | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-22+2518G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742675 | |||||||
| chr3:196742711 | A | G | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+2554A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742711 | |||||||
| chr3:196742726 | A | G | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-22+2569A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742726 | |||||||
| chr3:196742731 | A | G | 76 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0002g0070 others(73): Show |
76 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.-22+2574A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742731 | |||||||
| chr3:196742786 | A | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+2629A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742786 | |||||||
| chr3:196742823 | C | A | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-22+2666C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742823 | |||||||
| chr3:196742867 | T | C | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+2710T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742867 | |||||||
| chr3:196742868 | C | A | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+2711C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742868 | |||||||
| chr3:196742875 | G | A | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+2718G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196742875 | |||||||
| chr3:196743064 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+2907A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743064 | |||||||
| chr3:196743103 | G | GA | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+2953dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196743103 | ||||||
| chr3:196743111 | T | A | 74 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(71): Show |
74 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(71): Show |
intron_variant | MODIFIER | c.-22+2954T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743111 | |||||||
| chr3:196743111 | T | G | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-22+2954T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743111 | |||||||
| chr3:196743123 | C | T | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.-22+2966C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743123 | |||||||
| chr3:196743126 | A | C | 50 | a0001c0001t0001g0052 a0001c0001t0002g0070 a0001c0001t0002g0078 others(47): Show |
50 | HG00099.hp1 HG00639.hp2 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.-22+2969A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743126 | |||||||
| chr3:196743306 | G | A | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+3149G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743306 | |||||||
| chr3:196743349 | C | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+3192C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743349 | |||||||
| chr3:196743362 | T | A | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+3205T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743362 | |||||||
| chr3:196743371 | T | C | 2 | a0001c0001t0003g0010 a0001c0001t0047g0011 |
2 | NA18951.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.-22+3214T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743371 | |||||||
| chr3:196743568 | C | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+3411C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743568 | |||||||
| chr3:196743587 | C | G | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+3430C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743587 | |||||||
| chr3:196743668 | T | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+3511T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743668 | |||||||
| chr3:196743718 | C | CTAAAAA | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+3570_-22+3575d others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196743718 | ||||||
| chr3:196743740 | G | C | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+3583G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743740 | |||||||
| chr3:196743742 | C | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+3585C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743742 | |||||||
| chr3:196743883 | A | AAAAC | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+3746_-22+3749d others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196743883 | ||||||
| chr3:196743980 | G | A | 173 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(170): Show |
173 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
intron_variant | MODIFIER | c.-22+3823G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196743980 | |||||||
| chr3:196744145 | G | T | 1 | a0001c0002t0059g0113 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-22+3988G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196744145 | |||||||
| chr3:196744247 | A | G | 8 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0021g0042 others(5): Show |
8 | HG00099.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+4090A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196744247 | |||||||
| chr3:196744250 | A | G | 2 | a0001c0001t0001g0039 a0001c0001t0001g0040 |
2 | HG02273.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-22+4093A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196744250 | |||||||
| chr3:196744401 | CAATT | C | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+4247_-22+4250d others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196744401 | ||||||
| chr3:196744511 | C | G | 1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-22+4354C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196744511 | |||||||
| chr3:196744603 | G | A | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-22+4446G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196744603 | |||||||
| chr3:196744636 | AAGT | A | 45 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(42): Show |
45 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.-22+4484_-22+4486d others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196744636 | ||||||
| chr3:196744682 | A | G | 8 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0021g0042 others(5): Show |
8 | HG00099.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+4525A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196744682 | |||||||
| chr3:196744928 | TTTTC | T | 5 | a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 others(2): Show |
5 | HG00544.hp2 HG02165.hp1 NA18953.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+4775_-22+4778d others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196744928 | ||||||
| chr3:196744932 | C | CT | 6 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0029g0044 others(3): Show |
6 | HG00099.hp1 HG02055.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+4785dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196744932 | ||||||
| chr3:196744932 | CT | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+4785delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196744932 | ||||||
| chr3:196745117 | A | G | 4 | a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0002t0001g0003 others(1): Show |
4 | HG02451.hp2 HG02630.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+4960A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745117 | |||||||
| chr3:196745119 | CT | C | 60 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(57): Show |
60 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.-22+4976delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196745119 | ||||||
| chr3:196745127 | T | A | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+4970T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745127 | |||||||
| chr3:196745200 | C | T | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+5043C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745200 | |||||||
| chr3:196745282 | A | AT | 20 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0045 others(17): Show |
20 | HG00099.hp1 HG01255.hp1 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.-22+5147dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196745282 | ||||||
| chr3:196745282 | AT | A | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.-22+5147delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196745282 | ||||||
| chr3:196745393 | G | C | 1 | a0001c0001t0001g0012 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.-22+5236G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745393 | |||||||
| chr3:196745436 | A | G | 2 | a0001c0001t0063g0109 a0001c0002t0059g0113 |
2 | HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.-22+5279A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745436 | |||||||
| chr3:196745597 | T | G | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+5440T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745597 | |||||||
| chr3:196745809 | A | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+5652A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745809 | |||||||
| chr3:196745818 | T | TAAAA | 45 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(42): Show |
45 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.-22+5671_-22+5674d others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196745818 | ||||||
| chr3:196745829 | A | G | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+5672A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745829 | |||||||
| chr3:196745829 | AAAG | A | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0022g0162 others(8): Show |
11 | HG01496.hp1 HG01891.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22+5679_-22+5681d others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196745829 | ||||||
| chr3:196745994 | T | C | 6 | a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0110 others(3): Show |
6 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+5837T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745994 | |||||||
| chr3:196745998 | T | C | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+5841T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196745998 | |||||||
| chr3:196746180 | CAA | C | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+6024_-22+6025d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746180 | |||||||
| chr3:196746193 | G | A | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+6036G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746193 | |||||||
| chr3:196746324 | G | C | 77 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(74): Show |
77 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.-22+6167G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746324 | |||||||
| chr3:196746351 | G | A | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+6194G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746351 | |||||||
| chr3:196746434 | C | T | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+6277C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746434 | |||||||
| chr3:196746435 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-22+6278G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746435 | |||||||
| chr3:196746469 | C | T | 1 | a0001c0001t0001g0166 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.-22+6312C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746469 | |||||||
| chr3:196746518 | T | C | 18 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(15): Show |
18 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-22+6361T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746518 | |||||||
| chr3:196746532 | C | A | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+6375C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746532 | |||||||
| chr3:196746533 | C | T | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-22+6376C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746533 | |||||||
| chr3:196746556 | T | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+6399T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746556 | |||||||
| chr3:196746685 | C | T | 1 | a0001c0001t0002g0106 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-22+6528C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746685 | |||||||
| chr3:196746761 | G | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+6604G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746761 | |||||||
| chr3:196746827 | A | AAAG | 14 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0048 others(11): Show |
14 | HG00642.hp1 HG02055.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.-22+6672_-22+6673i others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196746827 | ||||||
| chr3:196746827 | A | AAG | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+6671_-22+6672i others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196746827 | ||||||
| chr3:196746827 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+6670A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746827 | |||||||
| chr3:196746830 | A | AAGAAT | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-22+6673_-22+6674i others(7): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746830 | |||||||
| chr3:196746830 | A | T | 24 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0048 others(21): Show |
24 | HG00642.hp1 HG01496.hp1 HG01934.hp1 others(21): Show |
intron_variant | MODIFIER | c.-22+6673A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746830 | |||||||
| chr3:196746831 | G | A | 68 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0002g0070 others(65): Show |
68 | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.-22+6674G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746831 | |||||||
| chr3:196746831 | G | GAATA | 9 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0007g0071 others(6): Show |
9 | HG00099.hp1 HG01255.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.-22+6674_-22+6675i others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746831 | |||||||
| chr3:196746977 | T | C | 1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-22+6820T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196746977 | |||||||
| chr3:196747082 | C | T | 1 | a0001c0001t0005g0051 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-22+6925C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747082 | |||||||
| chr3:196747158 | T | G | 16 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0048 others(13): Show |
16 | HG00642.hp1 HG01255.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.-22+7001T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747158 | |||||||
| chr3:196747171 | C | CT | 16 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(13): Show |
16 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(13): Show |
intron_variant | MODIFIER | c.-22+7025dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196747171 | ||||||
| chr3:196747171 | CT | C | 80 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(77): Show |
80 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(77): Show |
intron_variant | MODIFIER | c.-22+7025delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196747171 | ||||||
| chr3:196747180 | T | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+7023T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747180 | |||||||
| chr3:196747205 | AGTTAAT | A | 2 | a0001c0002t0010g0105 a0003c0006t0010g0104 |
2 | HG02922.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.-22+7059_-22+7064d others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196747205 | ||||||
| chr3:196747267 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-22+7110G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747267 | |||||||
| chr3:196747269 | G | A | 4 | a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0002t0001g0003 others(1): Show |
4 | HG02451.hp2 HG02630.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+7112G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747269 | |||||||
| chr3:196747294 | A | G | 1 | a0001c0001t0003g0031 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-22+7137A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747294 | |||||||
| chr3:196747416 | G | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+7259G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747416 | |||||||
| chr3:196747418 | C | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+7261C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747418 | |||||||
| chr3:196747494 | T | C | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+7337T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747494 | |||||||
| chr3:196747576 | T | G | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+7419T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747576 | |||||||
| chr3:196747620 | A | G | 1 | a0001c0001t0003g0173 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-22+7463A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747620 | |||||||
| chr3:196747659 | T | C | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+7502T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747659 | |||||||
| chr3:196747985 | T | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+7828T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747985 | |||||||
| chr3:196747989 | G | C | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-22+7832G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196747989 | |||||||
| chr3:196748128 | CTT | C | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+7972_-22+7973d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748128 | |||||||
| chr3:196748248 | T | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+8091T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748248 | |||||||
| chr3:196748271 | G | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+8114G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748271 | |||||||
| chr3:196748362 | G | A | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+8205G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748362 | |||||||
| chr3:196748403 | T | G | 47 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(44): Show |
47 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.-22+8246T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748403 | |||||||
| chr3:196748442 | C | A | 47 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(44): Show |
47 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.-22+8285C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748442 | |||||||
| chr3:196748442 | C | T | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-22+8285C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748442 | |||||||
| chr3:196748485 | T | C | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+8328T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748485 | |||||||
| chr3:196748561 | CGTAGTTG others(5): Show |
C | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+8405_-22+8416d others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748561 | |||||||
| chr3:196748870 | A | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+8713A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748870 | |||||||
| chr3:196748879 | A | G | 47 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(44): Show |
47 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.-22+8722A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748879 | |||||||
| chr3:196748974 | G | C | 1 | a0001c0003t0006g0069 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.-22+8817G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748974 | |||||||
| chr3:196748993 | T | C | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-22+8836T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196748993 | |||||||
| chr3:196749081 | CT | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+8934delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196749081 | ||||||
| chr3:196749172 | G | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9015G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749172 | |||||||
| chr3:196749316 | C | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+9159C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749316 | |||||||
| chr3:196749338 | G | A | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+9181G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749338 | |||||||
| chr3:196749346 | C | CA | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+9190dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196749346 | ||||||
| chr3:196749369 | G | A | 1 | a0001c0001t0015g0005 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-22+9212G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749369 | |||||||
| chr3:196749409 | C | T | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+9252C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749409 | |||||||
| chr3:196749493 | G | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+9336G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749493 | |||||||
| chr3:196749733 | G | A | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+9576G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749733 | |||||||
| chr3:196749768 | C | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9611C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749768 | |||||||
| chr3:196749774 | A | G | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+9617A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749774 | |||||||
| chr3:196749801 | A | G | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-22+9644A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749801 | |||||||
| chr3:196749805 | G | C | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-22+9648G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749805 | |||||||
| chr3:196749829 | GT | G | 45 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(42): Show |
45 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.-22+9682delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196749829 | ||||||
| chr3:196749900 | C | T | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+9743C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749900 | |||||||
| chr3:196749964 | G | C | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-22+9807G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749964 | |||||||
| chr3:196749965 | A | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9808A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749965 | |||||||
| chr3:196749969 | G | A | 1 | a0001c0001t0004g0118 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.-22+9812G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196749969 | |||||||
| chr3:196749989 | C | CT | 16 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0048 others(13): Show |
16 | HG00642.hp1 HG01255.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.-22+9846dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196749989 | ||||||
| chr3:196749989 | C | CTT | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9845_-22+9846d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196749989 | ||||||
| chr3:196750005 | A | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+9848A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750005 | |||||||
| chr3:196750009 | A | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9852A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750009 | |||||||
| chr3:196750025 | C | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9868C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750025 | |||||||
| chr3:196750057 | G | C | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-22+9900G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750057 | |||||||
| chr3:196750072 | C | T | 50 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(47): Show |
50 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(47): Show |
intron_variant | MODIFIER | c.-22+9915C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750072 | |||||||
| chr3:196750135 | T | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+9978T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750135 | |||||||
| chr3:196750135 | T | G | 1 | a0001c0001t0025g0116 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.-22+9978T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750135 | |||||||
| chr3:196750202 | T | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+10045T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750202 | |||||||
| chr3:196750342 | G | C | 54 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(51): Show |
54 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(51): Show |
intron_variant | MODIFIER | c.-22+10185G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750342 | |||||||
| chr3:196750476 | C | A | 1 | a0001c0001t0021g0159 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-22+10319C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750476 | |||||||
| chr3:196750498 | G | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+10341G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750498 | |||||||
| chr3:196750527 | T | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+10370T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750527 | |||||||
| chr3:196750530 | G | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+10373G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750530 | |||||||
| chr3:196750631 | C | T | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-22+10474C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750631 | |||||||
| chr3:196750753 | G | GT | 43 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(40): Show |
43 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.-22+10599dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196750753 | ||||||
| chr3:196750753 | G | GTT | 4 | a0001c0001t0007g0071 a0001c0001t0053g0006 a0001c0002t0010g0105 others(1): Show |
4 | HG02647.hp1 HG02895.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+10598_-22+1059 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196750753 | ||||||
| chr3:196750756 | T | TA | 12 | a0001c0001t0001g0002 a0001c0001t0005g0059 a0001c0001t0007g0132 others(9): Show |
12 | HG00642.hp1 HG01255.hp1 HG02027.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+10613dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196750756 | ||||||
| chr3:196750756 | TA | T | 5 | a0001c0001t0001g0052 a0001c0001t0034g0009 a0001c0001t0037g0053 others(2): Show |
5 | HG00099.hp1 HG00738.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+10613delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196750756 | ||||||
| chr3:196750757 | A | T | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-22+10600A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750757 | |||||||
| chr3:196750758 | A | T | 41 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(38): Show |
41 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.-22+10601A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750758 | |||||||
| chr3:196750759 | A | T | 3 | a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0061g0102 |
3 | HG01975.hp1 HG02055.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-22+10602A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750759 | |||||||
| chr3:196750789 | A | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+10632A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750789 | |||||||
| chr3:196750961 | T | A | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-22+10804T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196750961 | |||||||
| chr3:196751174 | G | T | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-22+11017G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751174 | |||||||
| chr3:196751191 | T | C | 77 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(74): Show |
77 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.-22+11034T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751191 | |||||||
| chr3:196751342 | G | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11185G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751342 | |||||||
| chr3:196751507 | C | T | 42 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(39): Show |
42 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.-22+11350C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751507 | |||||||
| chr3:196751508 | G | A | 1 | a0001c0002t0001g0003 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-22+11351G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751508 | |||||||
| chr3:196751606 | C | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11449C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751606 | |||||||
| chr3:196751660 | AATTTATT others(11): Show |
A | 1 | a0001c0001t0016g0074 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-22+11506_-22+1152 others(22): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751660 | ||||||
| chr3:196751663 | T | A | 47 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(44): Show |
47 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.-22+11506T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751663 | |||||||
| chr3:196751663 | TTATTTAT others(7): Show |
T | 8 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0021g0042 others(5): Show |
8 | HG00099.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+11510_-22+1152 others(18): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751663 | ||||||
| chr3:196751664 | TATTTATA others(4): Show |
T | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+11508_-22+1151 others(15): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751664 | |||||||
| chr3:196751665 | A | T | 6 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(3): Show |
6 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+11508A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751665 | |||||||
| chr3:196751667 | T | A | 66 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(63): Show |
66 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.-22+11510T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751667 | |||||||
| chr3:196751674 | C | CACATATA others(17): Show |
1 | a0001c0001t0010g0140 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+11518_-22+1151 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CAT | 4 | a0001c0001t0023g0125 a0001c0001t0023g0172 a0001c0001t0025g0116 others(1): Show |
4 | HG00639.hp1 HG00738.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+11537_-22+1153 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(1): Show |
8 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(5): Show |
8 | HG00738.hp2 HG01074.hp1 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+11531_-22+1153 others(12): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(3): Show |
1 | a0001c0001t0007g0164 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.-22+11529_-22+1153 others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(5): Show |
3 | a0001c0001t0001g0163 a0001c0001t0007g0165 a0001c0001t0039g0130 |
3 | HG00544.hp2 HG02165.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-22+11527_-22+1153 others(16): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(7): Show |
3 | a0001c0001t0001g0166 a0001c0001t0020g0134 a0001c0002t0032g0135 |
3 | HG02622.hp2 HG03453.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.-22+11525_-22+1153 others(18): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(9): Show |
2 | a0001c0001t0015g0005 a0001c0001t0020g0133 |
2 | HG02280.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.-22+11523_-22+1153 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(11): Show |
1 | a0001c0002t0030g0131 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-22+11521_-22+1153 others(22): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(13): Show |
1 | a0001c0002t0013g0143 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-22+11519_-22+1153 others(24): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(15): Show |
1 | a0001c0001t0054g0161 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(26): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(17): Show |
3 | a0001c0001t0011g0139 a0001c0001t0022g0162 a0001c0001t0035g0144 |
3 | HG01891.hp2 HG02897.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(23): Show |
4 | a0001c0001t0011g0137 a0001c0001t0055g0146 a0001c0002t0005g0136 others(1): Show |
4 | HG02615.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(34): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CATATATA others(29): Show |
1 | a0001c0001t0011g0145 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(40): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751674 | C | CTATATAT others(4): Show |
1 | a0001c0001t0001g0167 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-22+11517_-22+1151 others(15): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751674 | |||||||
| chr3:196751674 | C | T | 66 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(63): Show |
66 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.-22+11517C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751674 | |||||||
| chr3:196751674 | CAT | C | 39 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(36): Show |
39 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(36): Show |
intron_variant | MODIFIER | c.-22+11537_-22+1153 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751674 | ||||||
| chr3:196751687 | AT | A | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+11531delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751687 | |||||||
| chr3:196751688 | T | A | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+11531T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751688 | |||||||
| chr3:196751689 | AT | A | 8 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0021g0042 others(5): Show |
8 | HG00099.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+11533delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751689 | |||||||
| chr3:196751690 | T | A | 6 | a0001c0001t0001g0002 a0001c0001t0016g0074 a0001c0001t0026g0098 others(3): Show |
6 | HG00642.hp1 HG01515.hp2 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+11533T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751690 | |||||||
| chr3:196751692 | T | A | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+11535T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751692 | |||||||
| chr3:196751693 | A | T | 14 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00642.hp1 HG01515.hp2 others(11): Show |
intron_variant | MODIFIER | c.-22+11536A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751693 | |||||||
| chr3:196751694 | T | A | 15 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00642.hp1 HG01515.hp2 others(12): Show |
intron_variant | MODIFIER | c.-22+11537T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751694 | |||||||
| chr3:196751695 | A | ATATAAAT others(3): Show |
2 | a0001c0001t0063g0109 a0001c0002t0059g0113 |
2 | HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(9): Show |
1 | a0001c0002t0057g0077 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(11): Show |
2 | a0001c0001t0002g0079 a0001c0001t0053g0006 |
2 | HG02895.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(22): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(15): Show |
2 | a0001c0001t0002g0080 a0001c0001t0002g0114 |
2 | HG01169.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(26): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(17): Show |
3 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0064g0112 |
3 | HG01346.hp2 HG02083.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(15): Show |
2 | a0001c0001t0018g0083 a0001c0001t0069g0072 |
2 | HG01169.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(26): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(14): Show |
1 | a0001c0003t0008g0063 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(25): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(19): Show |
1 | a0001c0001t0017g0103 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(30): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(18): Show |
1 | a0001c0001t0005g0048 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(17): Show |
4 | a0001c0001t0002g0086 a0001c0001t0018g0084 a0001c0001t0060g0107 others(1): Show |
4 | HG02004.hp2 NA18954.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(16): Show |
2 | a0001c0001t0005g0059 a0001c0004t0019g0061 |
2 | HG01255.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(27): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(21): Show |
1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(20): Show |
1 | a0001c0001t0005g0051 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(31): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(19): Show |
1 | a0003c0006t0010g0104 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(30): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(18): Show |
1 | a0001c0001t0006g0062 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(23): Show |
3 | a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0106 |
3 | HG02135.hp1 NA18945.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(34): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(21): Show |
5 | a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0017g0100 others(2): Show |
5 | HG01074.hp2 HG01934.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(20): Show |
3 | a0001c0003t0006g0066 a0001c0003t0008g0064 a0001c0003t0008g0065 |
3 | HG01943.hp2 NA18971.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(31): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(27): Show |
1 | a0001c0001t0068g0091 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(25): Show |
1 | a0001c0001t0002g0092 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(36): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(23): Show |
4 | a0001c0001t0002g0093 a0001c0001t0016g0076 a0001c0001t0016g0110 others(1): Show |
4 | HG01070.hp1 HG01071.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(34): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(22): Show |
2 | a0001c0002t0001g0004 a0001c0003t0006g0069 |
2 | HG01934.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(33): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(27): Show |
1 | a0001c0001t0002g0094 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(25): Show |
2 | a0001c0001t0002g0111 a0001c0001t0067g0055 |
2 | HG00642.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(36): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(24): Show |
2 | a0001c0001t0008g0068 a0001c0003t0006g0067 |
2 | HG01981.hp1 NA18940.hp2 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(35): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(29): Show |
1 | a0001c0001t0002g0095 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(40): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(27): Show |
3 | a0001c0001t0002g0096 a0001c0001t0058g0097 a0001c0001t0061g0102 |
3 | HG00639.hp2 HG01975.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(26): Show |
2 | a0001c0002t0001g0003 a0001c0004t0019g0057 |
2 | HG03225.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(37): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(28): Show |
1 | a0001c0004t0027g0058 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-22+11538_-22+1153 others(39): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(34): Show |
2 | a0001c0001t0005g0049 a0001c0001t0041g0046 |
2 | HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(45): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATATATAT others(36): Show |
2 | a0001c0001t0031g0050 a0001c0002t0005g0047 |
2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(47): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | ATTAC | 2 | a0001c0001t0002g0078 a0001c0001t0007g0071 |
2 | HG02135.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.-22+11538_-22+1153 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751695 | A | C | 13 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(10): Show |
13 | HG00099.hp1 HG00642.hp1 HG01515.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+11538A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751695 | |||||||
| chr3:196751696 | A | C | 77 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(74): Show |
77 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.-22+11539A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751696 | |||||||
| chr3:196751699 | C | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11542C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751699 | |||||||
| chr3:196751704 | T | A | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+11547T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751704 | |||||||
| chr3:196751727 | A | G | 1 | a0001c0002t0059g0113 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-22+11570A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751727 | |||||||
| chr3:196751741 | CT | C | 13 | a0001c0001t0001g0002 a0001c0001t0001g0167 a0001c0001t0003g0056 others(10): Show |
13 | HG00642.hp1 HG02055.hp1 HG03041.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+11604delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751741 | ||||||
| chr3:196751741 | CTT | C | 11 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0005g0059 others(8): Show |
11 | HG00099.hp1 HG01255.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22+11603_-22+1160 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751741 | ||||||
| chr3:196751741 | CTTTT | C | 42 | a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 others(39): Show |
42 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.-22+11601_-22+1160 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196751741 | ||||||
| chr3:196751745 | T | G | 1 | a0001c0002t0030g0131 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-22+11588T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751745 | |||||||
| chr3:196751796 | A | G | 77 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(74): Show |
77 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.-22+11639A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751796 | |||||||
| chr3:196751803 | C | T | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+11646C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751803 | |||||||
| chr3:196751804 | G | A | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-22+11647G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751804 | |||||||
| chr3:196751852 | C | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11695C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751852 | |||||||
| chr3:196751862 | T | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11705T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751862 | |||||||
| chr3:196751909 | A | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11752A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751909 | |||||||
| chr3:196751929 | G | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+11772G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751929 | |||||||
| chr3:196751982 | T | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+11825T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751982 | |||||||
| chr3:196751986 | G | A | 3 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0002t0032g0135 |
3 | HG02280.hp2 HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-22+11829G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196751986 | |||||||
| chr3:196752244 | T | G | 3 | a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0095 |
3 | HG02135.hp1 NA18945.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.-22+12087T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752244 | |||||||
| chr3:196752432 | C | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+12275C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752432 | |||||||
| chr3:196752472 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-22+12315C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752472 | |||||||
| chr3:196752481 | C | A | 2 | a0001c0001t0011g0137 a0001c0002t0005g0136 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-22+12324C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752481 | |||||||
| chr3:196752622 | CAG | C | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+12468_-22+1246 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196752622 | ||||||
| chr3:196752639 | G | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+12482G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752639 | |||||||
| chr3:196752656 | A | G | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+12499A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752656 | |||||||
| chr3:196752771 | T | G | 2 | a0001c0001t0037g0053 a0001c0007t0044g0054 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+12614T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752771 | |||||||
| chr3:196752776 | T | G | 1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-22+12619T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752776 | |||||||
| chr3:196752816 | TCCTGG | T | 2 | a0001c0001t0011g0137 a0001c0002t0005g0136 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-22+12663_-22+1266 others(9): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196752816 | ||||||
| chr3:196752844 | G | A | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+12687G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752844 | |||||||
| chr3:196752872 | A | G | 1 | a0001c0001t0047g0011 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.-22+12715A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752872 | |||||||
| chr3:196752883 | C | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+12726C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752883 | |||||||
| chr3:196752916 | G | A | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+12759G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752916 | |||||||
| chr3:196752984 | A | AT | 10 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0028g0174 others(7): Show |
10 | HG00642.hp1 HG01496.hp1 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.-22+12841dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196752984 | ||||||
| chr3:196752984 | A | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+12827A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752984 | |||||||
| chr3:196752985 | T | A | 1 | a0001c0001t0001g0138 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-22+12828T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196752985 | |||||||
| chr3:196753036 | A | G | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-22+12879A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753036 | |||||||
| chr3:196753043 | C | G | 1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-22+12886C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753043 | |||||||
| chr3:196753178 | C | T | 1 | a0001c0001t0003g0173 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-22+13021C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753178 | |||||||
| chr3:196753192 | C | T | 5 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0029g0044 others(2): Show |
5 | HG00099.hp1 HG02055.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+13035C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753192 | |||||||
| chr3:196753209 | A | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(109): Show |
intron_variant | MODIFIER | c.-22+13052A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753209 | |||||||
| chr3:196753390 | A | G | 76 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(73): Show |
76 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.-22+13233A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753390 | |||||||
| chr3:196753452 | C | T | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+13295C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753452 | |||||||
| chr3:196753464 | G | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+13307G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753464 | |||||||
| chr3:196753517 | A | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+13360A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753517 | |||||||
| chr3:196753724 | C | T | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-22+13567C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753724 | |||||||
| chr3:196753736 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+13579A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753736 | |||||||
| chr3:196753894 | A | T | 1 | a0001c0001t0005g0048 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-22+13737A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753894 | |||||||
| chr3:196753919 | A | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+13762A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753919 | |||||||
| chr3:196753931 | A | G | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-22+13774A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753931 | |||||||
| chr3:196753936 | T | C | 1 | a0001c0001t0014g0176 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-22+13779T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196753936 | |||||||
| chr3:196754026 | T | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-22+13869T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754026 | |||||||
| chr3:196754153 | T | C | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+13996T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754153 | |||||||
| chr3:196754350 | C | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+14193C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754350 | |||||||
| chr3:196754374 | G | A | 1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-22+14217G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754374 | |||||||
| chr3:196754391 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-22+14234C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754391 | |||||||
| chr3:196754429 | A | C | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+14272A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754429 | |||||||
| chr3:196754441 | G | A | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+14284G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754441 | |||||||
| chr3:196754538 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-22+14381C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754538 | |||||||
| chr3:196754636 | C | G | 2 | a0001c0001t0002g0092 a0001c0001t0002g0094 |
2 | NA18970.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.-22+14479C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754636 | |||||||
| chr3:196754665 | C | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+14508C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754665 | |||||||
| chr3:196754900 | T | C | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+14743T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754900 | |||||||
| chr3:196754957 | G | C | 1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-22+14800G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754957 | |||||||
| chr3:196754966 | T | C | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+14809T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196754966 | |||||||
| chr3:196755030 | C | T | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-22+14873C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755030 | |||||||
| chr3:196755340 | T | C | 6 | a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0110 others(3): Show |
6 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+15183T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755340 | |||||||
| chr3:196755457 | CT | C | 118 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(115): Show |
118 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(115): Show |
intron_variant | MODIFIER | c.-22+15318delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196755457 | ||||||
| chr3:196755457 | CTT | C | 27 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0005g0048 others(24): Show |
27 | HG00642.hp1 HG01255.hp1 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.-22+15317_-22+1531 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196755457 | ||||||
| chr3:196755574 | T | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+15417T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755574 | |||||||
| chr3:196755664 | G | A | 1 | a0001c0001t0040g0175 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-22+15507G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755664 | |||||||
| chr3:196755702 | C | T | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+15545C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755702 | |||||||
| chr3:196755724 | T | C | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-22+15567T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755724 | |||||||
| chr3:196755742 | GC | G | 4 | a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0002t0001g0003 others(1): Show |
4 | HG02451.hp2 HG02630.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+15587delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196755742 | ||||||
| chr3:196755787 | C | A | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-22+15630C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755787 | |||||||
| chr3:196755793 | G | C | 1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-22+15636G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755793 | |||||||
| chr3:196755937 | A | G | 79 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(76): Show |
79 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(76): Show |
intron_variant | MODIFIER | c.-22+15780A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755937 | |||||||
| chr3:196755962 | G | A | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+15805G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196755962 | |||||||
| chr3:196756005 | T | C | 66 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(63): Show |
66 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.-22+15848T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756005 | |||||||
| chr3:196756037 | A | C | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+15880A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756037 | |||||||
| chr3:196756043 | C | T | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+15886C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756043 | |||||||
| chr3:196756050 | G | A | 37 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(34): Show |
37 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(34): Show |
intron_variant | MODIFIER | c.-22+15893G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756050 | |||||||
| chr3:196756113 | C | T | 6 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(3): Show |
6 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+15956C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756113 | |||||||
| chr3:196756409 | G | A | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+16252G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756409 | |||||||
| chr3:196756445 | T | C | 1 | a0001c0001t0009g0119 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-22+16288T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756445 | |||||||
| chr3:196756488 | C | T | 2 | a0001c0001t0066g0087 a0001c0001t0068g0091 |
2 | HG01255.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.-22+16331C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756488 | |||||||
| chr3:196756564 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+16407G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756564 | |||||||
| chr3:196756604 | G | A | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-22+16447G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756604 | |||||||
| chr3:196756645 | G | T | 1 | a0001c0001t0001g0166 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.-22+16488G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756645 | |||||||
| chr3:196756741 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-22+16584C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756741 | |||||||
| chr3:196756744 | A | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-22+16587A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756744 | |||||||
| chr3:196756751 | G | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+16594G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756751 | |||||||
| chr3:196756783 | C | G | 1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-22+16626C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756783 | |||||||
| chr3:196756923 | G | A | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+16766G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196756923 | |||||||
| chr3:196757010 | C | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+16853C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757010 | |||||||
| chr3:196757086 | G | A | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-22+16929G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757086 | |||||||
| chr3:196757199 | G | A | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-22+17042G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757199 | |||||||
| chr3:196757339 | A | G | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-22+17182A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757339 | |||||||
| chr3:196757354 | G | C | 2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | NA18945.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.-22+17197G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757354 | |||||||
| chr3:196757596 | TA | T | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+17441delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196757596 | ||||||
| chr3:196757732 | G | A | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-22+17575G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757732 | |||||||
| chr3:196757799 | C | G | 21 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(18): Show |
21 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.-22+17642C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196757799 | |||||||
| chr3:196758026 | G | GA | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+17875dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196758026 | ||||||
| chr3:196758096 | A | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-22+17939A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758096 | |||||||
| chr3:196758203 | G | A | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+18046G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758203 | |||||||
| chr3:196758256 | G | A | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+18099G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758256 | |||||||
| chr3:196758274 | A | G | 5 | a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0017g0100 others(2): Show |
5 | HG01934.hp2 HG01975.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+18117A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758274 | |||||||
| chr3:196758289 | G | A | 1 | a0001c0001t0003g0056 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-22+18132G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758289 | |||||||
| chr3:196758545 | A | G | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22+18388A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758545 | |||||||
| chr3:196758643 | A | C | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+18486A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758643 | |||||||
| chr3:196758654 | T | G | 6 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0029g0044 others(3): Show |
6 | HG00099.hp1 HG02055.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+18497T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758654 | |||||||
| chr3:196758659 | G | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+18502G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758659 | |||||||
| chr3:196758707 | T | C | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-22+18550T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758707 | |||||||
| chr3:196758719 | T | C | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+18562T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758719 | |||||||
| chr3:196758735 | C | A | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+18578C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758735 | |||||||
| chr3:196758805 | A | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+18648A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758805 | |||||||
| chr3:196758980 | G | T | 112 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(109): Show |
intron_variant | MODIFIER | c.-22+18823G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196758980 | |||||||
| chr3:196759007 | G | A | 173 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(170): Show |
173 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
intron_variant | MODIFIER | c.-22+18850G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759007 | |||||||
| chr3:196759381 | A | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+19224A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759381 | |||||||
| chr3:196759405 | C | A | 1 | a0001c0001t0003g0010 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.-22+19248C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759405 | |||||||
| chr3:196759449 | T | C | 2 | a0001c0001t0001g0016 a0001c0003t0006g0015 |
2 | HG01070.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.-22+19292T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759449 | |||||||
| chr3:196759489 | G | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+19332G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759489 | |||||||
| chr3:196759489 | GTTTTTTT others(3): Show |
G | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+19341_-22+1935 others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759489 | ||||||
| chr3:196759489 | GTTTTTTT others(4): Show |
G | 1 | a0001c0001t0003g0158 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-22+19341_-22+1935 others(15): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759489 | ||||||
| chr3:196759489 | GTTTTTTT others(15): Show |
G | 1 | a0001c0001t0015g0005 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-22+19341_-22+1936 others(26): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759489 | ||||||
| chr3:196759489 | GTTTTTTT others(17): Show |
G | 1 | a0002c0005t0001g0157 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-22+19341_-22+1936 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759489 | ||||||
| chr3:196759498 | G | GT | 5 | a0001c0001t0001g0150 a0001c0001t0003g0155 a0001c0001t0011g0145 others(2): Show |
5 | HG00558.hp2 HG02280.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+19380dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | G | GTTTTTTT others(10): Show |
1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-22+19364_-22+1938 others(21): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | G | T | 1 | a0001c0001t0010g0140 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+19341G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759498 | |||||||
| chr3:196759498 | GT | G | 12 | a0001c0001t0001g0115 a0001c0001t0001g0156 a0001c0001t0003g0151 others(9): Show |
12 | HG01496.hp2 HG01943.hp1 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+19380delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTT | G | 7 | a0001c0001t0023g0125 a0001c0001t0023g0172 a0001c0001t0025g0116 others(4): Show |
7 | HG00099.hp2 HG00738.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+19379_-22+1938 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTT | G | 10 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(7): Show |
10 | HG00544.hp1 HG02615.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.-22+19376_-22+1938 others(9): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTT | G | 32 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 others(29): Show |
32 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(29): Show |
intron_variant | MODIFIER | c.-22+19375_-22+1938 others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT | G | 49 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(46): Show |
49 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.-22+19374_-22+1938 others(11): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT others(3): Show |
G | 7 | a0001c0001t0001g0045 a0001c0001t0005g0048 a0001c0001t0005g0049 others(4): Show |
7 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+19371_-22+1938 others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT others(4): Show |
G | 6 | a0001c0001t0009g0119 a0001c0001t0020g0134 a0001c0001t0036g0041 others(3): Show |
6 | HG02451.hp2 HG02630.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+19370_-22+1938 others(15): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT others(5): Show |
G | 2 | a0001c0001t0007g0132 a0001c0001t0022g0162 |
2 | HG01891.hp2 HG02027.hp1 |
intron_variant | MODIFIER | c.-22+19369_-22+1938 others(16): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT others(8): Show |
G | 3 | a0001c0001t0001g0166 a0001c0001t0003g0148 a0001c0001t0007g0164 |
3 | HG00408.hp1 NA18953.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.-22+19366_-22+1938 others(19): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT others(9): Show |
G | 3 | a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0007g0165 |
3 | HG00544.hp2 HG02165.hp1 NA18954.hp2 |
intron_variant | MODIFIER | c.-22+19365_-22+1938 others(20): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759498 | GTTTTTTT others(16): Show |
G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+19358_-22+1938 others(27): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196759498 | ||||||
| chr3:196759505 | T | G | 1 | a0001c0001t0028g0174 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-22+19348T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759505 | |||||||
| chr3:196759509 | T | G | 4 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 others(1): Show |
4 | HG01515.hp1 HG02615.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+19352T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759509 | |||||||
| chr3:196759510 | T | G | 7 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(4): Show |
7 | HG00544.hp1 HG03540.hp2 HG04199.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+19353T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759510 | |||||||
| chr3:196759511 | T | G | 30 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 others(27): Show |
30 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.-22+19354T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759511 | |||||||
| chr3:196759512 | T | G | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-22+19355T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759512 | |||||||
| chr3:196759514 | T | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+19357T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759514 | |||||||
| chr3:196759518 | T | G | 47 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(44): Show |
47 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.-22+19361T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759518 | |||||||
| chr3:196759519 | T | G | 8 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(5): Show |
8 | HG00544.hp1 HG02647.hp2 HG03225.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+19362T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759519 | |||||||
| chr3:196759520 | T | G | 31 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 others(28): Show |
31 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.-22+19363T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759520 | |||||||
| chr3:196759522 | T | G | 52 | a0001c0001t0001g0045 a0001c0001t0002g0070 a0001c0001t0002g0078 others(49): Show |
52 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(49): Show |
intron_variant | MODIFIER | c.-22+19365T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759522 | |||||||
| chr3:196759523 | T | G | 3 | a0001c0001t0036g0041 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 HG02630.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+19366T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759523 | |||||||
| chr3:196759524 | T | G | 1 | a0001c0001t0021g0159 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-22+19367T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759524 | |||||||
| chr3:196759525 | T | G | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-22+19368T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759525 | |||||||
| chr3:196759526 | T | G | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+19369T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759526 | |||||||
| chr3:196759528 | T | G | 2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | NA18945.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.-22+19371T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759528 | |||||||
| chr3:196759530 | T | G | 2 | a0001c0001t0002g0095 a0001c0001t0069g0072 |
2 | HG01169.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.-22+19373T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759530 | |||||||
| chr3:196759586 | G | A | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-22+19429G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759586 | |||||||
| chr3:196759610 | T | C | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+19453T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759610 | |||||||
| chr3:196759718 | G | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+19561G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759718 | |||||||
| chr3:196759746 | T | C | 173 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(170): Show |
173 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
intron_variant | MODIFIER | c.-22+19589T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759746 | |||||||
| chr3:196759793 | G | A | 1 | a0001c0001t0002g0090 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-22+19636G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759793 | |||||||
| chr3:196759826 | G | C | 1 | a0001c0001t0002g0094 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-22+19669G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759826 | |||||||
| chr3:196759926 | A | G | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+19769A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759926 | |||||||
| chr3:196759957 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-22+19800C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196759957 | |||||||
| chr3:196760079 | C | T | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+19922C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760079 | |||||||
| chr3:196760311 | C | T | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-22+20154C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760311 | |||||||
| chr3:196760527 | A | T | 1 | a0001c0001t0004g0029 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-22+20370A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760527 | |||||||
| chr3:196760645 | C | T | 2 | a0001c0001t0041g0046 a0001c0002t0005g0047 |
2 | HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-22+20488C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760645 | |||||||
| chr3:196760689 | T | G | 1 | a0001c0001t0050g0147 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-22+20532T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760689 | |||||||
| chr3:196760848 | C | T | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-22+20691C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760848 | |||||||
| chr3:196760991 | C | G | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+20834C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196760991 | |||||||
| chr3:196761101 | AC | A | 5 | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0038 others(2): Show |
5 | HG00558.hp1 HG02074.hp1 NA18951.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+20946delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761101 | ||||||
| chr3:196761145 | C | CT | 67 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(64): Show |
67 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.-22+21005dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761145 | ||||||
| chr3:196761145 | C | CTT | 6 | a0001c0001t0039g0130 a0001c0001t0040g0175 a0001c0001t0051g0160 others(3): Show |
6 | HG00738.hp2 HG02300.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+21004_-22+2100 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761145 | ||||||
| chr3:196761145 | C | CTTT | 5 | a0001c0001t0002g0106 a0001c0001t0053g0006 a0001c0002t0010g0105 others(2): Show |
5 | HG02818.hp2 HG02895.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+21003_-22+2100 others(7): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761145 | ||||||
| chr3:196761145 | C | CTTTT | 42 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(39): Show |
42 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.-22+21002_-22+2100 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761145 | ||||||
| chr3:196761167 | T | A | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+21010T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761167 | |||||||
| chr3:196761297 | C | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+21140C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761297 | |||||||
| chr3:196761302 | G | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+21145G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761302 | |||||||
| chr3:196761328 | A | G | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0021g0042 others(9): Show |
12 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+21171A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761328 | |||||||
| chr3:196761329 | T | G | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0021g0042 others(9): Show |
12 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+21172T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761329 | |||||||
| chr3:196761339 | T | A | 2 | a0001c0001t0002g0093 a0001c0001t0062g0085 |
2 | HG02004.hp2 NA18940.hp1 |
intron_variant | MODIFIER | c.-22+21182T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761339 | |||||||
| chr3:196761346 | T | G | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0021g0042 others(9): Show |
12 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+21189T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761346 | |||||||
| chr3:196761411 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-21-21215G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761411 | |||||||
| chr3:196761417 | A | C | 51 | a0001c0001t0001g0052 a0001c0001t0002g0070 a0001c0001t0002g0078 others(48): Show |
51 | HG00099.hp1 HG00639.hp2 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.-21-21209A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761417 | |||||||
| chr3:196761422 | A | G | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-21-21204A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761422 | |||||||
| chr3:196761429 | C | T | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-21-21197C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761429 | |||||||
| chr3:196761466 | G | A | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-21160G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761466 | |||||||
| chr3:196761471 | G | A | 1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-21-21155G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761471 | |||||||
| chr3:196761525 | G | C | 1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.-21-21101G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761525 | |||||||
| chr3:196761527 | A | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-21099A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761527 | |||||||
| chr3:196761672 | C | T | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-20954C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761672 | |||||||
| chr3:196761673 | A | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-20953A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761673 | |||||||
| chr3:196761687 | G | C | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-20939G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761687 | |||||||
| chr3:196761731 | G | A | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-20895G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761731 | |||||||
| chr3:196761758 | C | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-20868C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761758 | |||||||
| chr3:196761762 | C | T | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-21-20864C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761762 | |||||||
| chr3:196761767 | C | T | 5 | a0001c0001t0001g0052 a0001c0001t0021g0042 a0001c0001t0036g0041 others(2): Show |
5 | HG00099.hp1 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-20859C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761767 | |||||||
| chr3:196761789 | ACCCCCAC others(41): Show |
A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-20831_-21-2078 others(52): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761789 | ||||||
| chr3:196761809 | T | A | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-20817T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761809 | |||||||
| chr3:196761822 | C | A | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-21-20804C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761822 | |||||||
| chr3:196761836 | AC | A | 68 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(65): Show |
68 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.-21-20781delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196761836 | ||||||
| chr3:196761838 | C | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-20788C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761838 | |||||||
| chr3:196761940 | C | T | 6 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(3): Show |
6 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-21-20686C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761940 | |||||||
| chr3:196761956 | C | T | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-20670C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761956 | |||||||
| chr3:196761995 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-20631G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196761995 | |||||||
| chr3:196762069 | C | T | 1 | a0001c0001t0001g0002 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-21-20557C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762069 | |||||||
| chr3:196762079 | C | T | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-21-20547C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762079 | |||||||
| chr3:196762085 | T | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-20541T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762085 | |||||||
| chr3:196762136 | A | G | 1 | a0001c0001t0055g0146 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-21-20490A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762136 | |||||||
| chr3:196762137 | T | G | 3 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0002t0032g0135 |
3 | HG02280.hp2 HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-21-20489T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762137 | |||||||
| chr3:196762143 | C | G | 114 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(111): Show |
intron_variant | MODIFIER | c.-21-20483C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762143 | |||||||
| chr3:196762154 | A | ACGCTCCT others(33): Show |
48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-21-20452_-21-2045 others(44): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196762154 | ||||||
| chr3:196762181 | T | C | 113 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.-21-20445T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762181 | |||||||
| chr3:196762186 | G | A | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-20440G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762186 | |||||||
| chr3:196762190 | G | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-20436G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762190 | |||||||
| chr3:196762261 | C | T | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-20365C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762261 | |||||||
| chr3:196762272 | A | G | 49 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(46): Show |
49 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.-21-20354A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762272 | |||||||
| chr3:196762289 | C | CG | 5 | a0001c0001t0001g0163 a0001c0001t0003g0158 a0001c0001t0005g0059 others(2): Show |
5 | HG00544.hp2 HG01255.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-20333dupG | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196762289 | ||||||
| chr3:196762358 | G | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-20268G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762358 | |||||||
| chr3:196762405 | C | G | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-20221C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762405 | |||||||
| chr3:196762425 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.-21-20201G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762425 | |||||||
| chr3:196762428 | A | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-20198A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762428 | |||||||
| chr3:196762460 | C | T | 4 | a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0002t0001g0003 others(1): Show |
4 | HG02451.hp2 HG02630.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-20166C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762460 | |||||||
| chr3:196762495 | G | T | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-21-20131G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762495 | |||||||
| chr3:196762546 | C | T | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-21-20080C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762546 | |||||||
| chr3:196762551 | C | T | 30 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(27): Show |
30 | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.-21-20075C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762551 | |||||||
| chr3:196762557 | A | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-21-20069A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762557 | |||||||
| chr3:196762560 | C | T | 1 | a0001c0001t0042g0001 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-21-20066C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762560 | |||||||
| chr3:196762568 | C | T | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-21-20058C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762568 | |||||||
| chr3:196762580 | G | T | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-20046G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762580 | |||||||
| chr3:196762603 | A | G | 114 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(111): Show |
intron_variant | MODIFIER | c.-21-20023A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762603 | |||||||
| chr3:196762656 | C | T | 12 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(9): Show |
12 | HG00642.hp1 HG02451.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.-21-19970C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762656 | |||||||
| chr3:196762657 | G | A | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-21-19969G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762657 | |||||||
| chr3:196762675 | GGGGAGA | G | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-19931_-21-1992 others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196762675 | ||||||
| chr3:196762690 | G | T | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-19936G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762690 | |||||||
| chr3:196762727 | G | A | 1 | a0001c0001t0014g0177 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-21-19899G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762727 | |||||||
| chr3:196762749 | C | T | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-21-19877C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762749 | |||||||
| chr3:196762795 | CAAA | C | 48 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(45): Show |
48 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.-21-19819_-21-1981 others(7): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196762795 | ||||||
| chr3:196762818 | G | C | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-19808G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762818 | |||||||
| chr3:196762879 | T | C | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-19747T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762879 | |||||||
| chr3:196762897 | A | G | 2 | a0001c0001t0024g0007 a0001c0001t0033g0043 |
2 | HG02055.hp1 HG02083.hp2 |
intron_variant | MODIFIER | c.-21-19729A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762897 | |||||||
| chr3:196762951 | A | C | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-19675A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762951 | |||||||
| chr3:196762962 | G | T | 1 | a0001c0001t0004g0118 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.-21-19664G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196762962 | |||||||
| chr3:196763273 | G | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-19353G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763273 | |||||||
| chr3:196763291 | G | C | 59 | a0001c0001t0001g0002 a0001c0001t0002g0070 a0001c0001t0002g0078 others(56): Show |
59 | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(56): Show |
intron_variant | MODIFIER | c.-21-19335G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763291 | |||||||
| chr3:196763350 | G | T | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-21-19276G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763350 | |||||||
| chr3:196763424 | C | T | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-19202C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763424 | |||||||
| chr3:196763435 | G | C | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-21-19191G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763435 | |||||||
| chr3:196763439 | A | G | 1 | a0001c0001t0009g0027 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-21-19187A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763439 | |||||||
| chr3:196763451 | G | A | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-19175G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763451 | |||||||
| chr3:196763522 | G | T | 2 | a0001c0001t0049g0018 a0001c0003t0008g0019 |
2 | HG00544.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.-21-19104G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763522 | |||||||
| chr3:196763532 | G | A | 1 | a0001c0001t0007g0164 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.-21-19094G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763532 | |||||||
| chr3:196763718 | T | C | 1 | a0001c0003t0006g0015 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-21-18908T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763718 | |||||||
| chr3:196763761 | G | A | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-21-18865G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763761 | |||||||
| chr3:196763772 | A | G | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-21-18854A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763772 | |||||||
| chr3:196763955 | C | T | 16 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0005g0059 others(13): Show |
16 | HG00099.hp1 HG01255.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.-21-18671C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763955 | |||||||
| chr3:196763959 | C | T | 21 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(18): Show |
21 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.-21-18667C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196763959 | |||||||
| chr3:196763964 | A | AT | 82 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(79): Show |
82 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.-21-18647dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196763964 | ||||||
| chr3:196763964 | AT | A | 16 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0011g0139 others(13): Show |
16 | HG00099.hp1 HG02055.hp1 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.-21-18647delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196763964 | ||||||
| chr3:196764060 | C | T | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-21-18566C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764060 | |||||||
| chr3:196764442 | G | A | 2 | a0001c0001t0038g0060 a0001c0001t0053g0006 |
2 | HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-21-18184G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764442 | |||||||
| chr3:196764618 | C | CA | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-17999dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196764618 | ||||||
| chr3:196764631 | A | T | 69 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0002g0070 others(66): Show |
69 | HG00099.hp1 HG00639.hp2 HG00642.hp2 others(66): Show |
intron_variant | MODIFIER | c.-21-17995A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764631 | |||||||
| chr3:196764632 | T | A | 111 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.-21-17994T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764632 | |||||||
| chr3:196764709 | G | A | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-21-17917G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764709 | |||||||
| chr3:196764788 | G | C | 4 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(1): Show |
4 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-17838G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764788 | |||||||
| chr3:196764830 | T | G | 54 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(51): Show |
54 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(51): Show |
intron_variant | MODIFIER | c.-21-17796T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764830 | |||||||
| chr3:196764841 | C | CT | 21 | a0001c0001t0001g0045 a0001c0001t0002g0079 a0001c0001t0002g0089 others(18): Show |
21 | HG00639.hp2 HG01169.hp2 HG01255.hp1 others(18): Show |
intron_variant | MODIFIER | c.-21-17766dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196764841 | ||||||
| chr3:196764841 | CT | C | 71 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(68): Show |
71 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.-21-17766delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196764841 | ||||||
| chr3:196764844 | T | TC | 3 | a0001c0001t0038g0060 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-17782_-21-1778 others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764844 | |||||||
| chr3:196764845 | T | C | 3 | a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0001t0053g0006 |
3 | HG02630.hp1 HG02895.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-21-17781T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764845 | |||||||
| chr3:196764895 | T | C | 16 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0005g0059 others(13): Show |
16 | HG00099.hp1 HG01255.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.-21-17731T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764895 | |||||||
| chr3:196764952 | C | T | 1 | a0001c0001t0025g0116 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.-21-17674C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196764952 | |||||||
| chr3:196765001 | C | T | 2 | a0001c0001t0038g0060 a0001c0001t0053g0006 |
2 | HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-21-17625C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765001 | |||||||
| chr3:196765035 | G | A | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-17591G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765035 | |||||||
| chr3:196765044 | C | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-21-17582C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765044 | |||||||
| chr3:196765079 | C | T | 14 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(11): Show |
14 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(11): Show |
intron_variant | MODIFIER | c.-21-17547C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765079 | |||||||
| chr3:196765087 | A | G | 174 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(171): Show |
174 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.-21-17539A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765087 | |||||||
| chr3:196765119 | C | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-17507C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765119 | |||||||
| chr3:196765141 | G | T | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-21-17485G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765141 | |||||||
| chr3:196765143 | C | CT | 9 | a0001c0001t0001g0156 a0001c0001t0003g0155 a0001c0001t0007g0132 others(6): Show |
9 | HG02027.hp1 HG02055.hp1 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-17461dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196765143 | ||||||
| chr3:196765143 | CT | C | 36 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(33): Show |
36 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.-21-17461delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196765143 | ||||||
| chr3:196765143 | CTT | C | 56 | a0001c0001t0001g0002 a0001c0001t0002g0070 a0001c0001t0002g0078 others(53): Show |
56 | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.-21-17462_-21-1746 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196765143 | ||||||
| chr3:196765143 | CTTT | C | 14 | a0001c0001t0005g0059 a0001c0001t0006g0062 a0001c0001t0008g0068 others(11): Show |
14 | HG01255.hp1 HG01496.hp1 HG01934.hp1 others(11): Show |
intron_variant | MODIFIER | c.-21-17463_-21-1746 others(7): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196765143 | ||||||
| chr3:196765163 | T | A | 46 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(43): Show |
46 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.-21-17463T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765163 | |||||||
| chr3:196765191 | A | G | 4 | a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0002t0001g0003 others(1): Show |
4 | HG02451.hp2 HG02630.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-17435A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765191 | |||||||
| chr3:196765261 | C | T | 2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | NA18945.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.-21-17365C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765261 | |||||||
| chr3:196765311 | C | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-17315C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765311 | |||||||
| chr3:196765393 | C | T | 1 | a0001c0002t0030g0131 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-21-17233C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765393 | |||||||
| chr3:196765568 | A | T | 54 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(51): Show |
54 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(51): Show |
intron_variant | MODIFIER | c.-21-17058A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765568 | |||||||
| chr3:196765660 | A | G | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-21-16966A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765660 | |||||||
| chr3:196765756 | G | C | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-16870G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765756 | |||||||
| chr3:196765903 | C | CT | 14 | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG01255.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.-21-16708dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196765903 | ||||||
| chr3:196765905 | T | G | 1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-21-16721T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765905 | |||||||
| chr3:196765922 | C | T | 1 | a0001c0001t0023g0125 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.-21-16704C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765922 | |||||||
| chr3:196765993 | G | A | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-21-16633G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196765993 | |||||||
| chr3:196766142 | G | A | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-16484G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766142 | |||||||
| chr3:196766288 | G | A | 13 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0021g0042 others(10): Show |
13 | HG00099.hp1 HG01255.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.-21-16338G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766288 | |||||||
| chr3:196766561 | G | T | 1 | a0001c0001t0014g0177 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-21-16065G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766561 | |||||||
| chr3:196766610 | A | G | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-16016A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766610 | |||||||
| chr3:196766640 | G | A | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-15986G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766640 | |||||||
| chr3:196766831 | A | G | 5 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(2): Show |
5 | HG02451.hp2 HG02630.hp1 NA19043.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-15795A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766831 | |||||||
| chr3:196766868 | C | T | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-15758C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196766868 | |||||||
| chr3:196766903 | T | TA | 9 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0037g0053 others(6): Show |
9 | HG00099.hp1 HG01255.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.-21-15713dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766903 | ||||||
| chr3:196766931 | C | CGT | 26 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0166 others(23): Show |
26 | HG00738.hp2 HG01070.hp1 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.-21-15652_-21-1565 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | C | CGTGT | 39 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(36): Show |
39 | HG00642.hp1 HG01169.hp1 HG01346.hp2 others(36): Show |
intron_variant | MODIFIER | c.-21-15654_-21-1565 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | C | CGTGTGT | 19 | a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0003g0158 others(16): Show |
19 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.-21-15656_-21-1565 others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | C | CGTGTGTG others(1): Show |
10 | a0001c0001t0004g0124 a0001c0001t0006g0062 a0001c0001t0007g0165 others(7): Show |
10 | HG00642.hp2 HG01071.hp1 HG01074.hp2 others(7): Show |
intron_variant | MODIFIER | c.-21-15658_-21-1565 others(12): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | C | CGTGTGTG others(3): Show |
1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-21-15660_-21-1565 others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | CGT | C | 17 | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0045 others(14): Show |
17 | HG00408.hp1 HG00558.hp2 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21-15652_-21-1565 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | CGTGT | C | 26 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(23): Show |
26 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(23): Show |
intron_variant | MODIFIER | c.-21-15654_-21-1565 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | CGTGTGTG others(17): Show |
C | 6 | a0001c0001t0001g0052 a0001c0001t0034g0009 a0001c0001t0038g0060 others(3): Show |
6 | HG00099.hp1 HG02451.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-15674_-21-1565 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196766931 | CGTGTGTG others(19): Show |
C | 8 | a0001c0001t0005g0059 a0001c0001t0021g0042 a0001c0001t0036g0041 others(5): Show |
8 | HG01255.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-15676_-21-1565 others(30): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196766931 | ||||||
| chr3:196767012 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-21-15614A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767012 | |||||||
| chr3:196767088 | ATG | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-15537_-21-1553 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767088 | |||||||
| chr3:196767090 | G | A | 14 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0021g0042 others(11): Show |
14 | HG00099.hp1 HG01255.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.-21-15536G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767090 | |||||||
| chr3:196767259 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-21-15367G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767259 | |||||||
| chr3:196767282 | T | C | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-21-15344T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767282 | |||||||
| chr3:196767314 | T | C | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-21-15312T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767314 | |||||||
| chr3:196767336 | A | G | 1 | a0001c0001t0063g0109 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-21-15290A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767336 | |||||||
| chr3:196767421 | T | TG | 105 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(102): Show |
105 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(102): Show |
intron_variant | MODIFIER | c.-21-15205_-21-1520 others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767421 | |||||||
| chr3:196767483 | TTTTG | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-15122_-21-1511 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196767483 | ||||||
| chr3:196767512 | GGAGTCTT others(4064): Show |
G | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-21-15099_-21-1102 others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196767512 | ||||||
| chr3:196767646 | G | A | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-21-14980G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767646 | |||||||
| chr3:196767665 | T | C | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-14961T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767665 | |||||||
| chr3:196767719 | C | T | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-21-14907C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767719 | |||||||
| chr3:196767740 | C | T | 2 | a0001c0002t0010g0105 a0003c0006t0010g0104 |
2 | HG02922.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.-21-14886C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767740 | |||||||
| chr3:196767827 | AC | A | 7 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0037g0053 others(4): Show |
7 | HG00099.hp1 HG01255.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-14798delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767827 | |||||||
| chr3:196767831 | C | T | 52 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(49): Show |
52 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(49): Show |
intron_variant | MODIFIER | c.-21-14795C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767831 | |||||||
| chr3:196767883 | G | T | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-14743G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767883 | |||||||
| chr3:196767902 | A | G | 1 | a0001c0001t0002g0088 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-21-14724A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196767902 | |||||||
| chr3:196768125 | TAA | T | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-14500_-21-1449 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768125 | |||||||
| chr3:196768289 | C | T | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-14337C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768289 | |||||||
| chr3:196768316 | A | G | 2 | a0001c0001t0022g0162 a0001c0001t0054g0161 |
2 | HG01891.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-21-14310A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768316 | |||||||
| chr3:196768342 | C | G | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-21-14284C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768342 | |||||||
| chr3:196768353 | A | G | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-21-14273A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768353 | |||||||
| chr3:196768484 | T | TTATG | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-14139_-21-1413 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196768484 | ||||||
| chr3:196768488 | T | G | 8 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0012g0034 others(5): Show |
8 | HG00099.hp1 HG01255.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-14138T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768488 | |||||||
| chr3:196768488 | T | TTATG | 5 | a0001c0001t0034g0009 a0001c0001t0053g0006 a0001c0002t0001g0003 others(2): Show |
5 | HG02451.hp2 HG02895.hp2 NA18980.hp2 others(2): Show |
intron_variant | MODIFIER | c.-21-14135_-21-1413 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196768488 | ||||||
| chr3:196768492 | A | G | 103 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(100): Show |
103 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.-21-14134A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768492 | |||||||
| chr3:196768504 | G | GTATT | 4 | a0001c0001t0005g0059 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG01255.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-14104_-21-1410 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196768504 | ||||||
| chr3:196768504 | G | T | 45 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(42): Show |
45 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.-21-14122G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768504 | |||||||
| chr3:196768508 | T | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-14118T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768508 | |||||||
| chr3:196768567 | G | C | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-14059G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768567 | |||||||
| chr3:196768659 | CTTTATT | C | 12 | a0001c0001t0001g0052 a0001c0001t0005g0059 a0001c0001t0034g0009 others(9): Show |
12 | HG00099.hp1 HG01255.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.-21-13959_-21-1395 others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196768659 | ||||||
| chr3:196768812 | C | T | 2 | a0001c0002t0010g0105 a0003c0006t0010g0104 |
2 | HG02922.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.-21-13814C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768812 | |||||||
| chr3:196768956 | C | T | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-13670C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768956 | |||||||
| chr3:196768959 | G | T | 5 | a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0017g0100 others(2): Show |
5 | HG01934.hp2 HG01975.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.-21-13667G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196768959 | |||||||
| chr3:196769141 | A | C | 1 | a0001c0001t0002g0095 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-21-13485A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769141 | |||||||
| chr3:196769281 | C | T | 3 | a0001c0001t0001g0052 a0001c0001t0037g0053 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-13345C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769281 | |||||||
| chr3:196769333 | A | C | 2 | a0001c0001t0066g0087 a0001c0001t0068g0091 |
2 | HG01255.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.-21-13293A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769333 | |||||||
| chr3:196769433 | T | C | 68 | a0001c0001t0001g0052 a0001c0001t0002g0070 a0001c0001t0002g0078 others(65): Show |
68 | HG00099.hp1 HG00639.hp2 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.-21-13193T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769433 | |||||||
| chr3:196769438 | T | C | 1 | a0001c0001t0003g0158 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-21-13188T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769438 | |||||||
| chr3:196769472 | A | G | 1 | a0001c0001t0021g0159 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-21-13154A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769472 | |||||||
| chr3:196769530 | G | A | 8 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(5): Show |
8 | HG00642.hp1 HG03041.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-13096G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769530 | |||||||
| chr3:196769534 | A | G | 50 | a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0156 others(47): Show |
50 | HG00099.hp1 HG00639.hp2 HG01169.hp1 others(47): Show |
intron_variant | MODIFIER | c.-21-13092A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769534 | |||||||
| chr3:196769542 | T | G | 6 | a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0017g0100 others(3): Show |
6 | HG01934.hp2 HG01975.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-13084T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769542 | |||||||
| chr3:196769544 | G | A | 1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-21-13082G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769544 | |||||||
| chr3:196769549 | C | T | 1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-21-13077C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769549 | |||||||
| chr3:196769564 | C | T | 1 | a0001c0001t0017g0100 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-21-13062C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769564 | |||||||
| chr3:196769638 | C | T | 1 | a0001c0001t0001g0167 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-21-12988C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769638 | |||||||
| chr3:196769639 | G | A | 3 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0002t0032g0135 |
3 | HG02280.hp2 HG02622.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-21-12987G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769639 | |||||||
| chr3:196769647 | T | A | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-21-12979T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769647 | |||||||
| chr3:196769647 | T | TA | 63 | a0001c0001t0001g0045 a0001c0001t0002g0070 a0001c0001t0002g0078 others(60): Show |
63 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(60): Show |
intron_variant | MODIFIER | c.-21-12968dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196769647 | ||||||
| chr3:196769647 | T | TAA | 80 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(77): Show |
80 | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(77): Show |
intron_variant | MODIFIER | c.-21-12969_-21-1296 others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196769647 | ||||||
| chr3:196769816 | CAAAAAAG others(5): Show |
C | 53 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(50): Show |
53 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.-21-12809_-21-1279 others(16): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769816 | |||||||
| chr3:196769817 | AAAAAAG | A | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-12787_-21-1278 others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196769817 | ||||||
| chr3:196769837 | A | G | 10 | a0001c0001t0001g0052 a0001c0001t0034g0009 a0001c0001t0038g0060 others(7): Show |
10 | HG00099.hp1 HG02451.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.-21-12789A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196769837 | |||||||
| chr3:196770022 | A | G | 2 | a0001c0001t0002g0092 a0001c0001t0002g0094 |
2 | NA18970.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.-21-12604A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770022 | |||||||
| chr3:196770041 | A | T | 34 | a0001c0001t0001g0141 a0001c0001t0004g0118 a0001c0001t0004g0120 others(31): Show |
34 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.-21-12585A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770041 | |||||||
| chr3:196770242 | G | A | 1 | a0001c0001t0048g0153 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-21-12384G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770242 | |||||||
| chr3:196770346 | A | G | 150 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(147): Show |
150 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
intron_variant | MODIFIER | c.-21-12280A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770346 | |||||||
| chr3:196770512 | G | T | 1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-21-12114G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770512 | |||||||
| chr3:196770540 | A | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-12086A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770540 | |||||||
| chr3:196770668 | G | A | 9 | a0001c0001t0001g0052 a0001c0001t0034g0009 a0001c0001t0038g0060 others(6): Show |
9 | HG00099.hp1 HG02451.hp2 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.-21-11958G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770668 | |||||||
| chr3:196770685 | C | G | 56 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(53): Show |
56 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(53): Show |
intron_variant | MODIFIER | c.-21-11941C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770685 | |||||||
| chr3:196770700 | G | T | 2 | a0001c0001t0022g0162 a0001c0001t0054g0161 |
2 | HG01891.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-21-11926G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770700 | |||||||
| chr3:196770711 | C | G | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-11915C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770711 | |||||||
| chr3:196770729 | TCTC | T | 44 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(41): Show |
44 | HG00639.hp2 HG00642.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.-21-11894_-21-1189 others(7): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196770729 | ||||||
| chr3:196770820 | A | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-21-11806A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196770820 | |||||||
| chr3:196771035 | A | G | 13 | a0001c0001t0001g0141 a0001c0001t0010g0140 a0001c0001t0011g0137 others(10): Show |
13 | HG01346.hp1 HG01891.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.-21-11591A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196771035 | |||||||
| chr3:196771123 | A | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-11503A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196771123 | |||||||
| chr3:196771189 | G | A | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-21-11437G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196771189 | |||||||
| chr3:196771581 | A | G | 3 | a0001c0001t0037g0053 a0001c0002t0010g0105 a0003c0006t0010g0104 |
3 | HG02922.hp2 HG02970.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-21-11045A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196771581 | |||||||
| chr3:196771716 | G | A | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-21-10910G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196771716 | |||||||
| chr3:196772021 | C | T | 2 | a0001c0001t0001g0052 a0001c0007t0044g0054 |
2 | HG00099.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-10605C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772021 | |||||||
| chr3:196772022 | G | A | 1 | a0001c0001t0002g0114 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-21-10604G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772022 | |||||||
| chr3:196772049 | G | C | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-21-10577G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772049 | |||||||
| chr3:196772341 | G | A | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-21-10285G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772341 | |||||||
| chr3:196772442 | A | G | 1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-21-10184A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772442 | |||||||
| chr3:196772450 | A | G | 1 | a0001c0001t0011g0139 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.-21-10176A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772450 | |||||||
| chr3:196772521 | A | G | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-21-10105A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772521 | |||||||
| chr3:196772748 | T | C | 36 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(33): Show |
36 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(33): Show |
intron_variant | MODIFIER | c.-21-9878T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772748 | |||||||
| chr3:196772766 | A | G | 11 | a0001c0001t0001g0052 a0001c0001t0021g0042 a0001c0001t0034g0009 others(8): Show |
11 | HG00099.hp1 HG02451.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.-21-9860A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772766 | |||||||
| chr3:196772771 | G | A | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-9855G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772771 | |||||||
| chr3:196772906 | A | T | 1 | a0001c0001t0055g0146 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-21-9720A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772906 | |||||||
| chr3:196772955 | C | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-9671C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196772955 | |||||||
| chr3:196773282 | G | A | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-21-9344G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773282 | |||||||
| chr3:196773377 | C | T | 3 | a0001c0001t0001g0052 a0001c0001t0038g0060 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-9249C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773377 | |||||||
| chr3:196773394 | C | A | 1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-21-9232C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773394 | |||||||
| chr3:196773603 | C | T | 34 | a0001c0001t0001g0141 a0001c0001t0004g0118 a0001c0001t0004g0120 others(31): Show |
34 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.-21-9023C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773603 | |||||||
| chr3:196773828 | C | T | 3 | a0001c0001t0002g0111 a0001c0001t0003g0148 a0001c0001t0003g0151 |
3 | HG00408.hp1 HG03942.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.-21-8798C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773828 | |||||||
| chr3:196773903 | G | A | 8 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(5): Show |
8 | HG02451.hp2 HG02630.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-8723G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773903 | |||||||
| chr3:196773935 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-21-8691G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196773935 | |||||||
| chr3:196774038 | A | C | 49 | a0001c0001t0001g0052 a0001c0001t0002g0070 a0001c0001t0002g0078 others(46): Show |
49 | HG00099.hp1 HG00639.hp2 HG01169.hp1 others(46): Show |
intron_variant | MODIFIER | c.-21-8588A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774038 | |||||||
| chr3:196774068 | G | A | 5 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(2): Show |
5 | HG02451.hp2 HG02630.hp1 NA19043.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-8558G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774068 | |||||||
| chr3:196774222 | A | G | 8 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show |
8 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-8404A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774222 | |||||||
| chr3:196774227 | A | G | 1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-21-8399A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774227 | |||||||
| chr3:196774259 | C | T | 1 | a0001c0001t0002g0096 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-21-8367C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774259 | |||||||
| chr3:196774429 | G | C | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-21-8197G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774429 | |||||||
| chr3:196774457 | G | C | 1 | a0001c0001t0001g0167 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-21-8169G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774457 | |||||||
| chr3:196774542 | A | G | 34 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(31): Show |
34 | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.-21-8084A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774542 | |||||||
| chr3:196774627 | T | C | 1 | a0001c0001t0065g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-21-7999T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774627 | |||||||
| chr3:196774682 | A | G | 3 | a0001c0001t0037g0053 a0001c0002t0010g0105 a0003c0006t0010g0104 |
3 | HG02922.hp2 HG02970.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-21-7944A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774682 | |||||||
| chr3:196774855 | C | G | 1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-21-7771C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196774855 | |||||||
| chr3:196774957 | TCAA | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-7661_-21-7659d others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196774957 | ||||||
| chr3:196775080 | T | C | 1 | a0001c0001t0003g0031 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-21-7546T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775080 | |||||||
| chr3:196775209 | C | T | 1 | a0001c0002t0057g0077 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-21-7417C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775209 | |||||||
| chr3:196775278 | C | T | 1 | a0001c0001t0062g0085 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.-21-7348C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775278 | |||||||
| chr3:196775291 | G | A | 8 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(5): Show |
8 | HG02451.hp2 HG02630.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-7335G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775291 | |||||||
| chr3:196775380 | AT | A | 8 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(5): Show |
8 | HG02451.hp2 HG02630.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-7243delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196775380 | ||||||
| chr3:196775391 | T | A | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-21-7235T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775391 | |||||||
| chr3:196775392 | A | AT | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-7226dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196775392 | ||||||
| chr3:196775405 | C | T | 1 | a0001c0002t0005g0047 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-21-7221C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775405 | |||||||
| chr3:196775468 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-21-7158C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775468 | |||||||
| chr3:196775589 | G | A | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-21-7037G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775589 | |||||||
| chr3:196775628 | G | A | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-21-6998G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775628 | |||||||
| chr3:196775946 | C | G | 12 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(9): Show |
12 | HG00642.hp1 HG01255.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.-21-6680C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196775946 | |||||||
| chr3:196776182 | G | A | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.-21-6444G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776182 | |||||||
| chr3:196776190 | G | A | 1 | a0001c0002t0010g0105 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-21-6436G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776190 | |||||||
| chr3:196776252 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-21-6374C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776252 | |||||||
| chr3:196776263 | A | G | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.-21-6363A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776263 | |||||||
| chr3:196776416 | C | T | 1 | a0001c0002t0030g0131 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-21-6210C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776416 | |||||||
| chr3:196776470 | G | A | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-6156G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776470 | |||||||
| chr3:196776723 | C | T | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.-21-5903C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776723 | |||||||
| chr3:196776902 | T | G | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-5724T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776902 | |||||||
| chr3:196776913 | T | C | 2 | a0001c0001t0022g0162 a0001c0001t0054g0161 |
2 | HG01891.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-21-5713T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776913 | |||||||
| chr3:196776985 | A | C | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.-21-5641A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196776985 | |||||||
| chr3:196777324 | C | T | 3 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 |
3 | NA18945.hp2 NA18951.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-21-5302C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196777324 | |||||||
| chr3:196777341 | C | T | 8 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(5): Show |
8 | HG02451.hp2 HG02630.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.-21-5285C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196777341 | |||||||
| chr3:196777587 | G | C | 3 | a0001c0001t0037g0053 a0001c0002t0010g0105 a0003c0006t0010g0104 |
3 | HG02922.hp2 HG02970.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-21-5039G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196777587 | |||||||
| chr3:196777721 | A | T | 1 | a0001c0001t0001g0138 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-21-4905A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196777721 | |||||||
| chr3:196777781 | T | C | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-4845T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196777781 | |||||||
| chr3:196777971 | A | G | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-21-4655A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196777971 | |||||||
| chr3:196778019 | G | C | 95 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(92): Show |
95 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.-21-4607G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778019 | |||||||
| chr3:196778031 | G | C | 52 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(49): Show |
52 | HG00544.hp1 HG00639.hp2 HG01169.hp1 others(49): Show |
intron_variant | MODIFIER | c.-21-4595G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778031 | |||||||
| chr3:196778147 | G | A | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.-21-4479G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778147 | |||||||
| chr3:196778297 | A | T | 1 | a0001c0001t0055g0146 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-21-4329A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778297 | |||||||
| chr3:196778333 | T | C | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.-21-4293T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778333 | |||||||
| chr3:196778359 | A | G | 1 | a0001c0001t0001g0163 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-21-4267A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778359 | |||||||
| chr3:196778375 | A | G | 1 | a0001c0001t0001g0038 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-21-4251A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778375 | |||||||
| chr3:196778520 | G | T | 5 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(2): Show |
5 | HG01074.hp1 HG01496.hp2 HG01943.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-4106G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778520 | |||||||
| chr3:196778591 | T | C | 1 | a0001c0001t0009g0126 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-21-4035T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778591 | |||||||
| chr3:196778792 | T | C | 21 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(18): Show |
21 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.-21-3834T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778792 | |||||||
| chr3:196778798 | A | AATG | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-3827_-21-3825d others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196778798 | ||||||
| chr3:196778926 | A | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-3700A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778926 | |||||||
| chr3:196778938 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-21-3688G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196778938 | |||||||
| chr3:196778987 | C | CTTGG | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-3636_-21-3633d others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196778987 | ||||||
| chr3:196779192 | T | C | 1 | a0001c0001t0001g0149 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.-21-3434T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779192 | |||||||
| chr3:196779267 | A | T | 1 | a0001c0001t0002g0079 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-21-3359A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779267 | |||||||
| chr3:196779282 | A | G | 93 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(90): Show |
93 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.-21-3344A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779282 | |||||||
| chr3:196779342 | C | T | 1 | a0001c0001t0015g0005 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-21-3284C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779342 | |||||||
| chr3:196779378 | G | A | 14 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(11): Show |
14 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(11): Show |
intron_variant | MODIFIER | c.-21-3248G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779378 | |||||||
| chr3:196779568 | A | G | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.-21-3058A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779568 | |||||||
| chr3:196779707 | C | T | 2 | a0001c0001t0001g0052 a0001c0007t0044g0054 |
2 | HG00099.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-2919C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779707 | |||||||
| chr3:196779712 | A | G | 13 | a0001c0001t0001g0141 a0001c0001t0010g0140 a0001c0001t0011g0137 others(10): Show |
13 | HG01346.hp1 HG01891.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.-21-2914A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779712 | |||||||
| chr3:196779940 | C | T | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-2686C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196779940 | |||||||
| chr3:196780002 | A | G | 1 | a0001c0001t0009g0119 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-21-2624A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780002 | |||||||
| chr3:196780069 | G | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-2557G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780069 | |||||||
| chr3:196780153 | C | T | 3 | a0001c0001t0001g0038 a0001c0001t0003g0010 a0001c0001t0047g0011 |
3 | NA18951.hp1 NA19005.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-21-2473C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780153 | |||||||
| chr3:196780189 | C | T | 1 | a0001c0001t0017g0103 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-21-2437C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780189 | |||||||
| chr3:196780210 | A | G | 96 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(93): Show |
96 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.-21-2416A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780210 | |||||||
| chr3:196780462 | C | A | 34 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(31): Show |
34 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(31): Show |
intron_variant | MODIFIER | c.-21-2164C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780462 | |||||||
| chr3:196780489 | A | T | 3 | a0001c0001t0037g0053 a0001c0002t0010g0105 a0003c0006t0010g0104 |
3 | HG02922.hp2 HG02970.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-21-2137A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780489 | |||||||
| chr3:196780572 | G | A | 4 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(1): Show |
4 | NA18945.hp2 NA18951.hp2 NA18980.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-2054G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780572 | |||||||
| chr3:196780780 | T | A | 1 | a0001c0003t0008g0019 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-21-1846T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780780 | |||||||
| chr3:196780881 | C | T | 1 | a0001c0001t0002g0095 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-21-1745C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196780881 | |||||||
| chr3:196781103 | T | C | 3 | a0001c0001t0001g0052 a0001c0001t0038g0060 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-1523T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781103 | |||||||
| chr3:196781221 | A | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-1405A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781221 | |||||||
| chr3:196781275 | G | T | 43 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(40): Show |
43 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.-21-1351G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781275 | |||||||
| chr3:196781310 | A | T | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-1316A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781310 | |||||||
| chr3:196781414 | C | T | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-21-1212C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781414 | |||||||
| chr3:196781456 | G | A | 1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-21-1170G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781456 | |||||||
| chr3:196781518 | A | C | 1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-21-1108A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781518 | |||||||
| chr3:196781680 | T | A | 96 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(93): Show |
96 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.-21-946T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781680 | |||||||
| chr3:196781691 | G | A | 1 | a0001c0001t0022g0021 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-21-935G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781691 | |||||||
| chr3:196781766 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-21-860G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781766 | |||||||
| chr3:196781902 | G | A | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-21-724G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196781902 | |||||||
| chr3:196782259 | A | G | 5 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(2): Show |
5 | HG02451.hp2 HG02630.hp1 NA19043.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-367A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196782259 | |||||||
| chr3:196782298 | T | TA | 18 | a0001c0001t0001g0052 a0001c0001t0006g0062 a0001c0001t0008g0068 others(15): Show |
18 | HG00099.hp1 HG00544.hp1 HG01496.hp1 others(15): Show |
intron_variant | MODIFIER | c.-21-313dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196782298 | ||||||
| chr3:196782298 | TA | T | 10 | a0001c0001t0001g0149 a0001c0001t0004g0037 a0001c0001t0014g0176 others(7): Show |
10 | HG01070.hp1 HG02615.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.-21-313delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | 196782298 | ||||||
| chr3:196782349 | T | A | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-277T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196782349 | |||||||
| chr3:196782462 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-21-164G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | 196782462 | |||||||
| chr3:196782867 | A | T | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.187+34A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196782867 | |||||||
| chr3:196782950 | A | C | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+117A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196782950 | |||||||
| chr3:196783028 | C | T | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+195C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783028 | |||||||
| chr3:196783046 | A | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.187+213A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783046 | |||||||
| chr3:196783282 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.187+449C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783282 | |||||||
| chr3:196783579 | C | CA | 37 | a0001c0001t0001g0045 a0001c0001t0002g0070 a0001c0001t0002g0078 others(34): Show |
37 | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(34): Show |
intron_variant | MODIFIER | c.187+763dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196783579 | ||||||
| chr3:196783579 | C | CAA | 13 | a0001c0001t0001g0052 a0001c0001t0006g0062 a0001c0001t0008g0068 others(10): Show |
13 | HG00099.hp1 HG00544.hp1 HG01496.hp1 others(10): Show |
intron_variant | MODIFIER | c.187+762_187+763dup others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196783579 | ||||||
| chr3:196783662 | G | A | 16 | a0001c0001t0009g0119 a0001c0001t0009g0126 a0001c0001t0013g0127 others(13): Show |
16 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.187+829G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783662 | |||||||
| chr3:196783720 | T | G | 2 | a0001c0001t0038g0060 a0001c0007t0044g0054 |
2 | HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.187+887T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783720 | |||||||
| chr3:196783921 | A | T | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.187+1088A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783921 | |||||||
| chr3:196783984 | T | C | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.187+1151T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196783984 | |||||||
| chr3:196784021 | T | C | 94 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(91): Show |
94 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.187+1188T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784021 | |||||||
| chr3:196784149 | A | G | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.187+1316A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784149 | |||||||
| chr3:196784151 | T | C | 3 | a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 |
3 | HG01891.hp1 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.187+1318T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784151 | |||||||
| chr3:196784223 | C | CT | 5 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0004t0019g0057 others(2): Show |
5 | HG02647.hp2 HG03209.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.187+1404dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196784223 | ||||||
| chr3:196784237 | T | A | 1 | a0001c0001t0014g0176 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.187+1404T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784237 | |||||||
| chr3:196784237 | TA | T | 45 | a0001c0001t0001g0023 a0001c0001t0002g0070 a0001c0001t0002g0078 others(42): Show |
45 | HG00544.hp1 HG00639.hp2 HG01169.hp1 others(42): Show |
intron_variant | MODIFIER | c.187+1406delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196784237 | ||||||
| chr3:196784238 | A | T | 45 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(42): Show |
45 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(42): Show |
intron_variant | MODIFIER | c.187+1405A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784238 | |||||||
| chr3:196784239 | ATTATAC | A | 2 | a0001c0001t0063g0109 a0001c0002t0059g0113 |
2 | HG02451.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.187+1409_187+1414d others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196784239 | ||||||
| chr3:196784315 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.187+1482C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784315 | |||||||
| chr3:196784336 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.187+1503A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784336 | |||||||
| chr3:196784360 | A | G | 1 | a0001c0003t0006g0067 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.187+1527A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784360 | |||||||
| chr3:196784377 | T | C | 1 | a0001c0001t0001g0163 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.187+1544T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784377 | |||||||
| chr3:196784447 | A | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+1614A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784447 | |||||||
| chr3:196784448 | T | G | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+1615T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784448 | |||||||
| chr3:196784495 | C | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.187+1662C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784495 | |||||||
| chr3:196784496 | G | C | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.187+1663G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784496 | |||||||
| chr3:196784675 | C | T | 4 | a0001c0001t0006g0062 a0001c0003t0006g0066 a0001c0003t0006g0067 others(1): Show |
4 | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.187+1842C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784675 | |||||||
| chr3:196784676 | G | A | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.187+1843G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784676 | |||||||
| chr3:196784679 | A | G | 34 | a0001c0001t0001g0141 a0001c0001t0004g0118 a0001c0001t0004g0120 others(31): Show |
34 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.187+1846A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784679 | |||||||
| chr3:196784796 | C | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.187+1963C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784796 | |||||||
| chr3:196784846 | A | C | 2 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | HG02630.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.187+2013A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784846 | |||||||
| chr3:196784895 | C | T | 1 | a0001c0001t0012g0128 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.187+2062C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784895 | |||||||
| chr3:196784910 | A | G | 1 | a0001c0001t0046g0033 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.187+2077A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784910 | |||||||
| chr3:196784999 | C | T | 94 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(91): Show |
94 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.187+2166C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196784999 | |||||||
| chr3:196785049 | C | T | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.187+2216C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785049 | |||||||
| chr3:196785054 | G | A | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.187+2221G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785054 | |||||||
| chr3:196785114 | T | C | 2 | a0001c0001t0001g0052 a0001c0007t0044g0054 |
2 | HG00099.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.187+2281T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785114 | |||||||
| chr3:196785273 | C | T | 13 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(10): Show |
13 | HG00642.hp1 HG01255.hp1 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.187+2440C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785273 | |||||||
| chr3:196785316 | CA | C | 2 | a0001c0001t0015g0169 a0001c0001t0015g0170 |
2 | HG00280.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.187+2486delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196785316 | ||||||
| chr3:196785458 | C | T | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+2625C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785458 | |||||||
| chr3:196785531 | T | C | 2 | a0001c0001t0022g0162 a0001c0001t0054g0161 |
2 | HG01891.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.187+2698T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785531 | |||||||
| chr3:196785658 | C | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+2825C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785658 | |||||||
| chr3:196785746 | C | T | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.187+2913C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785746 | |||||||
| chr3:196785779 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.187+2946C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785779 | |||||||
| chr3:196785782 | G | T | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.187+2949G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785782 | |||||||
| chr3:196785806 | A | G | 44 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(41): Show |
44 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.187+2973A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785806 | |||||||
| chr3:196785852 | G | A | 94 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(91): Show |
94 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.187+3019G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196785852 | |||||||
| chr3:196786051 | G | A | 1 | a0001c0001t0002g0106 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.187+3218G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786051 | |||||||
| chr3:196786166 | C | CT | 36 | a0001c0001t0001g0141 a0001c0001t0004g0118 a0001c0001t0004g0120 others(33): Show |
36 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(33): Show |
intron_variant | MODIFIER | c.187+3347dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196786166 | ||||||
| chr3:196786166 | CT | C | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+3347delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196786166 | ||||||
| chr3:196786182 | A | T | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.187+3349A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786182 | |||||||
| chr3:196786248 | C | T | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.187+3415C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786248 | |||||||
| chr3:196786255 | C | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.187+3422C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786255 | |||||||
| chr3:196786365 | G | C | 143 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(140): Show |
143 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show |
intron_variant | MODIFIER | c.187+3532G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786365 | |||||||
| chr3:196786711 | T | A | 49 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(46): Show |
49 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(46): Show |
intron_variant | MODIFIER | c.187+3878T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786711 | |||||||
| chr3:196786722 | C | G | 6 | a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0017g0100 others(3): Show |
6 | HG01934.hp2 HG01975.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.187+3889C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786722 | |||||||
| chr3:196786826 | C | CT | 29 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0080 others(26): Show |
29 | HG01169.hp1 HG01169.hp2 HG01255.hp2 others(26): Show |
intron_variant | MODIFIER | c.187+4006dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196786826 | ||||||
| chr3:196786839 | T | C | 47 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(44): Show |
47 | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.187+4006T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786839 | |||||||
| chr3:196786963 | T | A | 3 | a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 |
3 | HG01891.hp1 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.187+4130T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196786963 | |||||||
| chr3:196787099 | C | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.187+4266C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787099 | |||||||
| chr3:196787103 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.187+4270C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787103 | |||||||
| chr3:196787104 | G | A | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.187+4271G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787104 | |||||||
| chr3:196787309 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.187+4476C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787309 | |||||||
| chr3:196787341 | G | A | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+4508G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787341 | |||||||
| chr3:196787346 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.187+4513C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787346 | |||||||
| chr3:196787352 | C | A | 135 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(132): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.187+4519C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787352 | |||||||
| chr3:196787468 | A | G | 1 | a0001c0001t0052g0171 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.187+4635A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787468 | |||||||
| chr3:196787558 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.187+4725G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787558 | |||||||
| chr3:196787580 | G | GA | 48 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(45): Show |
48 | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.187+4764dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196787580 | ||||||
| chr3:196787580 | GA | G | 47 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(44): Show |
47 | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.187+4764delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196787580 | ||||||
| chr3:196787712 | T | C | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+4879T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787712 | |||||||
| chr3:196787765 | A | G | 9 | a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0110 others(6): Show |
9 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.187+4932A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787765 | |||||||
| chr3:196787809 | C | A | 3 | a0001c0001t0037g0053 a0001c0002t0010g0105 a0003c0006t0010g0104 |
3 | HG02922.hp2 HG02970.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.187+4976C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787809 | |||||||
| chr3:196787873 | C | T | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+5040C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787873 | |||||||
| chr3:196787970 | C | T | 2 | a0001c0001t0038g0060 a0001c0007t0044g0054 |
2 | HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.187+5137C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196787970 | |||||||
| chr3:196788002 | G | C | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+5169G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788002 | |||||||
| chr3:196788280 | C | A | 38 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(35): Show |
38 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(35): Show |
intron_variant | MODIFIER | c.187+5447C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788280 | |||||||
| chr3:196788366 | C | T | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+5533C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788366 | |||||||
| chr3:196788461 | C | G | 47 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(44): Show |
47 | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.187+5628C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788461 | |||||||
| chr3:196788463 | C | T | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+5630C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788463 | |||||||
| chr3:196788464 | G | A | 3 | a0001c0001t0001g0052 a0001c0001t0038g0060 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.187+5631G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788464 | |||||||
| chr3:196788474 | C | T | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+5641C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788474 | |||||||
| chr3:196788515 | T | C | 15 | a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0123 others(12): Show |
15 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(12): Show |
intron_variant | MODIFIER | c.187+5682T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788515 | |||||||
| chr3:196788607 | T | C | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+5774T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788607 | |||||||
| chr3:196788745 | C | T | 1 | a0001c0001t0004g0123 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.187+5912C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788745 | |||||||
| chr3:196788746 | G | C | 3 | a0001c0001t0001g0052 a0001c0001t0038g0060 a0001c0007t0044g0054 |
3 | HG00099.hp1 HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.187+5913G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788746 | |||||||
| chr3:196788780 | G | A | 2 | a0001c0001t0065g0075 a0001c0001t0067g0055 |
2 | HG00642.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.187+5947G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788780 | |||||||
| chr3:196788839 | G | A | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+6006G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196788839 | |||||||
| chr3:196789417 | A | C | 35 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(32): Show |
35 | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(32): Show |
intron_variant | MODIFIER | c.187+6584A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789417 | |||||||
| chr3:196789472 | T | TTTCTTTC | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+6645_187+6646i others(9): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196789472 | ||||||
| chr3:196789482 | C | CTTTTTTT | 35 | a0001c0001t0001g0141 a0001c0001t0004g0118 a0001c0001t0004g0120 others(32): Show |
35 | HG00099.hp2 HG00639.hp1 HG00738.hp1 others(32): Show |
intron_variant | MODIFIER | c.187+6655_187+6656i others(9): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196789482 | ||||||
| chr3:196789482 | C | CTTTTTTT others(1): Show |
12 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(9): Show |
12 | HG00642.hp1 HG01255.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.187+6655_187+6656i others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196789482 | ||||||
| chr3:196789482 | C | T | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+6649C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789482 | |||||||
| chr3:196789537 | A | G | 1 | a0001c0001t0004g0118 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.187+6704A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789537 | |||||||
| chr3:196789790 | A | G | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+6957A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789790 | |||||||
| chr3:196789792 | G | C | 47 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(44): Show |
47 | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.187+6959G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789792 | |||||||
| chr3:196789793 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.187+6960G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789793 | |||||||
| chr3:196789794 | G | A | 2 | a0001c0001t0015g0169 a0001c0001t0015g0170 |
2 | HG00280.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.187+6961G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789794 | |||||||
| chr3:196789794 | G | C | 1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.187+6961G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789794 | |||||||
| chr3:196789799 | T | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.187+6966T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789799 | |||||||
| chr3:196789907 | C | T | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+7074C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789907 | |||||||
| chr3:196789914 | A | G | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+7081A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789914 | |||||||
| chr3:196789962 | G | A | 1 | a0001c0001t0011g0137 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.187+7129G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196789962 | |||||||
| chr3:196790151 | A | G | 1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.187+7318A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790151 | |||||||
| chr3:196790225 | G | A | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.187+7392G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790225 | |||||||
| chr3:196790406 | C | T | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.187+7573C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790406 | |||||||
| chr3:196790695 | G | A | 16 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0005g0048 others(13): Show |
16 | HG00099.hp1 HG00642.hp1 HG01255.hp1 others(13): Show |
intron_variant | MODIFIER | c.187+7862G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790695 | |||||||
| chr3:196790760 | G | C | 134 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(131): Show |
134 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(131): Show |
intron_variant | MODIFIER | c.187+7927G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790760 | |||||||
| chr3:196790843 | C | A | 1 | a0003c0006t0010g0104 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.187+8010C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790843 | |||||||
| chr3:196790883 | A | G | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+8050A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790883 | |||||||
| chr3:196790916 | A | C | 3 | a0001c0001t0034g0009 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG02451.hp2 NA19043.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.187+8083A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196790916 | |||||||
| chr3:196791023 | G | A | 1 | a0001c0001t0012g0128 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.187+8190G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791023 | |||||||
| chr3:196791041 | G | T | 2 | a0001c0001t0002g0086 a0001c0001t0002g0089 |
2 | HG01934.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.187+8208G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791041 | |||||||
| chr3:196791051 | A | G | 1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.187+8218A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791051 | |||||||
| chr3:196791142 | G | A | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+8309G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791142 | |||||||
| chr3:196791153 | G | A | 1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.187+8320G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791153 | |||||||
| chr3:196791155 | A | G | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+8322A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791155 | |||||||
| chr3:196791194 | A | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.187+8361A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791194 | |||||||
| chr3:196791208 | C | G | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+8375C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791208 | |||||||
| chr3:196791400 | G | A | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+8567G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791400 | |||||||
| chr3:196791740 | A | G | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+8907A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791740 | |||||||
| chr3:196791749 | C | A | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.187+8916C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791749 | |||||||
| chr3:196791752 | G | A | 33 | a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 others(30): Show |
33 | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(30): Show |
intron_variant | MODIFIER | c.187+8919G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791752 | |||||||
| chr3:196791754 | C | G | 3 | a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0033g0043 |
3 | HG02055.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.187+8921C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791754 | |||||||
| chr3:196791855 | C | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.187+9022C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791855 | |||||||
| chr3:196791881 | C | T | 1 | a0001c0001t0003g0031 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.187+9048C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791881 | |||||||
| chr3:196791903 | C | T | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.187+9070C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791903 | |||||||
| chr3:196791920 | G | A | 47 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(44): Show |
47 | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.187+9087G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791920 | |||||||
| chr3:196791922 | C | CA | 37 | a0001c0001t0001g0030 a0001c0001t0002g0070 a0001c0001t0002g0078 others(34): Show |
37 | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(34): Show |
intron_variant | MODIFIER | c.187+9104dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196791922 | ||||||
| chr3:196791922 | CA | C | 14 | a0001c0001t0001g0141 a0001c0001t0010g0140 a0001c0001t0011g0137 others(11): Show |
14 | HG01346.hp1 HG01891.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.187+9104delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196791922 | ||||||
| chr3:196791981 | A | G | 56 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0004g0118 others(53): Show |
56 | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.187+9148A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196791981 | |||||||
| chr3:196792174 | G | A | 9 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(6): Show |
9 | HG00544.hp1 HG01496.hp1 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.187+9341G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792174 | |||||||
| chr3:196792283 | A | G | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.187+9450A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792283 | |||||||
| chr3:196792338 | T | C | 141 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(138): Show |
141 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(138): Show |
intron_variant | MODIFIER | c.187+9505T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792338 | |||||||
| chr3:196792362 | C | T | 9 | a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0110 others(6): Show |
9 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.187+9529C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792362 | |||||||
| chr3:196792644 | C | T | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.188-9283C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792644 | |||||||
| chr3:196792660 | C | T | 137 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(134): Show |
137 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
intron_variant | MODIFIER | c.188-9267C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792660 | |||||||
| chr3:196792674 | C | G | 9 | a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0110 others(6): Show |
9 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.188-9253C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792674 | |||||||
| chr3:196792732 | C | T | 3 | a0001c0001t0033g0043 a0001c0002t0010g0105 a0003c0006t0010g0104 |
3 | HG02055.hp1 HG02922.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.188-9195C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792732 | |||||||
| chr3:196792798 | G | GAA | 36 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(33): Show |
36 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(33): Show |
intron_variant | MODIFIER | c.188-9123_188-9122d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196792798 | ||||||
| chr3:196792804 | A | AAT | 4 | a0001c0001t0002g0114 a0001c0001t0007g0020 a0001c0001t0024g0007 others(1): Show |
4 | HG01169.hp1 HG01169.hp2 HG02083.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-9111_188-9110d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196792804 | ||||||
| chr3:196792806 | T | A | 41 | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0152 others(38): Show |
41 | HG00544.hp1 HG00639.hp2 HG01255.hp1 others(38): Show |
intron_variant | MODIFIER | c.188-9121T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792806 | |||||||
| chr3:196792816 | T | TAC | 2 | a0001c0001t0011g0145 a0001c0001t0035g0144 |
2 | HG02280.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.188-9096_188-9095d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196792816 | ||||||
| chr3:196792816 | TAC | T | 5 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(2): Show |
5 | HG02451.hp2 HG03041.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.188-9096_188-9095d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196792816 | ||||||
| chr3:196792818 | C | T | 119 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(116): Show |
119 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(116): Show |
intron_variant | MODIFIER | c.188-9109C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792818 | |||||||
| chr3:196792820 | C | T | 1 | a0001c0001t0001g0152 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.188-9107C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792820 | |||||||
| chr3:196792821 | A | G | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.188-9106A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792821 | |||||||
| chr3:196792829 | A | G | 1 | a0001c0002t0059g0113 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.188-9098A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792829 | |||||||
| chr3:196792962 | A | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.188-8965A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196792962 | |||||||
| chr3:196793007 | T | C | 89 | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0035 others(86): Show |
89 | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(86): Show |
intron_variant | MODIFIER | c.188-8920T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793007 | |||||||
| chr3:196793035 | C | T | 1 | a0001c0001t0002g0079 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.188-8892C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793035 | |||||||
| chr3:196793049 | G | A | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-8878G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793049 | |||||||
| chr3:196793179 | C | T | 24 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0152 others(21): Show |
24 | HG00544.hp1 HG00642.hp1 HG00738.hp2 others(21): Show |
intron_variant | MODIFIER | c.188-8748C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793179 | |||||||
| chr3:196793586 | T | C | 2 | a0001c0001t0001g0115 a0001c0001t0001g0156 |
2 | HG02071.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.188-8341T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793586 | |||||||
| chr3:196793806 | T | C | 2 | a0001c0001t0002g0092 a0001c0001t0002g0094 |
2 | NA18970.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.188-8121T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793806 | |||||||
| chr3:196793853 | T | G | 66 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(63): Show |
66 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.188-8074T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793853 | |||||||
| chr3:196793858 | C | T | 6 | a0001c0001t0005g0059 a0001c0001t0021g0159 a0001c0001t0034g0009 others(3): Show |
6 | HG00738.hp2 HG01255.hp1 HG02300.hp1 others(3): Show |
intron_variant | MODIFIER | c.188-8069C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196793858 | |||||||
| chr3:196794037 | A | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.188-7890A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794037 | |||||||
| chr3:196794159 | A | G | 1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.188-7768A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794159 | |||||||
| chr3:196794179 | A | G | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.188-7748A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794179 | |||||||
| chr3:196794233 | A | G | 2 | a0001c0001t0022g0162 a0001c0001t0054g0161 |
2 | HG01891.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.188-7694A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794233 | |||||||
| chr3:196794288 | T | A | 1 | a0001c0001t0016g0074 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.188-7639T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794288 | |||||||
| chr3:196794358 | C | T | 1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.188-7569C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794358 | |||||||
| chr3:196794425 | C | T | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-7502C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794425 | |||||||
| chr3:196794446 | C | G | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-7481C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794446 | |||||||
| chr3:196794475 | C | T | 1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.188-7452C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794475 | |||||||
| chr3:196794483 | G | A | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.188-7444G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794483 | |||||||
| chr3:196794670 | C | G | 67 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(64): Show |
67 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.188-7257C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794670 | |||||||
| chr3:196794676 | C | T | 1 | a0001c0001t0001g0039 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.188-7251C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794676 | |||||||
| chr3:196794769 | C | T | 2 | a0001c0001t0053g0006 a0001c0001t0055g0146 |
2 | HG02895.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.188-7158C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794769 | |||||||
| chr3:196794893 | A | G | 2 | a0001c0001t0011g0145 a0001c0001t0035g0144 |
2 | HG02280.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.188-7034A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794893 | |||||||
| chr3:196794935 | C | G | 1 | a0001c0001t0062g0085 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.188-6992C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196794935 | |||||||
| chr3:196795292 | C | CAA | 18 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0020g0133 others(15): Show |
18 | HG00544.hp1 HG00738.hp2 HG01070.hp2 others(15): Show |
intron_variant | MODIFIER | c.188-6623_188-6622d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196795292 | ||||||
| chr3:196795292 | CA | C | 71 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(68): Show |
71 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.188-6622delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196795292 | ||||||
| chr3:196795536 | TGAAA | T | 2 | a0001c0001t0001g0008 a0001c0001t0002g0090 |
2 | HG02074.hp1 HG02074.hp2 |
intron_variant | MODIFIER | c.188-6388_188-6385d others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196795536 | ||||||
| chr3:196795588 | T | C | 144 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.188-6339T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196795588 | |||||||
| chr3:196795763 | A | G | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-6164A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196795763 | |||||||
| chr3:196795936 | G | A | 2 | a0001c0001t0036g0041 a0001c0001t0038g0060 |
2 | HG02630.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.188-5991G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196795936 | |||||||
| chr3:196795980 | C | A | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-5947C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196795980 | |||||||
| chr3:196796045 | C | T | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-5882C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796045 | |||||||
| chr3:196796139 | G | T | 1 | a0001c0001t0013g0127 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.188-5788G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796139 | |||||||
| chr3:196796208 | TTCTTTCT others(24): Show |
T | 2 | a0001c0001t0036g0041 a0001c0001t0038g0060 |
2 | HG02630.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.188-5717_188-5687d others(33): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196796208 | ||||||
| chr3:196796345 | T | A | 147 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(144): Show |
147 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(144): Show |
intron_variant | MODIFIER | c.188-5582T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796345 | |||||||
| chr3:196796399 | G | A | 1 | a0001c0003t0008g0019 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.188-5528G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796399 | |||||||
| chr3:196796494 | T | A | 2 | a0001c0001t0021g0042 a0001c0001t0034g0009 |
2 | NA19043.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.188-5433T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796494 | |||||||
| chr3:196796521 | G | T | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-5406G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796521 | |||||||
| chr3:196796678 | A | G | 156 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.188-5249A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796678 | |||||||
| chr3:196796749 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.188-5178G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196796749 | |||||||
| chr3:196797066 | A | AAT | 40 | a0001c0001t0001g0141 a0001c0001t0002g0111 a0001c0001t0004g0029 others(37): Show |
40 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.188-4860_188-4859i others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196797066 | ||||||
| chr3:196797224 | T | C | 140 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show |
140 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.188-4703T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196797224 | |||||||
| chr3:196797235 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.188-4692C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196797235 | |||||||
| chr3:196797480 | G | T | 10 | a0001c0001t0002g0111 a0001c0001t0016g0074 a0001c0001t0016g0076 others(7): Show |
10 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(7): Show |
intron_variant | MODIFIER | c.188-4447G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196797480 | |||||||
| chr3:196797716 | A | T | 63 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(60): Show |
63 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(60): Show |
intron_variant | MODIFIER | c.188-4211A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196797716 | |||||||
| chr3:196797748 | C | T | 1 | a0001c0001t0007g0020 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.188-4179C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196797748 | |||||||
| chr3:196797760 | T | A | 40 | a0001c0001t0001g0141 a0001c0001t0002g0111 a0001c0001t0004g0029 others(37): Show |
40 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.188-4167T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196797760 | |||||||
| chr3:196798189 | A | G | 1 | a0001c0001t0050g0147 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.188-3738A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798189 | |||||||
| chr3:196798349 | C | CT | 78 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(75): Show |
intron_variant | MODIFIER | c.188-3567dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | 196798349 | ||||||
| chr3:196798404 | T | C | 140 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show |
140 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.188-3523T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798404 | |||||||
| chr3:196798681 | C | G | 1 | a0001c0001t0052g0171 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.188-3246C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798681 | |||||||
| chr3:196798706 | C | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.188-3221C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798706 | |||||||
| chr3:196798707 | A | G | 140 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show |
140 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.188-3220A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798707 | |||||||
| chr3:196798747 | C | T | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.188-3180C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798747 | |||||||
| chr3:196798770 | A | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.188-3157A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798770 | |||||||
| chr3:196798783 | G | A | 1 | a0001c0001t0014g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.188-3144G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196798783 | |||||||
| chr3:196799076 | G | A | 1 | a0001c0001t0001g0023 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.188-2851G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799076 | |||||||
| chr3:196799078 | A | G | 2 | a0001c0001t0002g0092 a0001c0001t0002g0094 |
2 | NA18970.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.188-2849A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799078 | |||||||
| chr3:196799260 | T | G | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-2667T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799260 | |||||||
| chr3:196799355 | T | A | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-2572T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799355 | |||||||
| chr3:196799458 | G | A | 116 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.188-2469G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799458 | |||||||
| chr3:196799496 | AG | A | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-2430delG | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799496 | |||||||
| chr3:196799556 | C | T | 36 | a0001c0001t0001g0141 a0001c0001t0004g0029 a0001c0001t0004g0036 others(33): Show |
36 | HG00544.hp1 HG01070.hp2 HG01074.hp1 others(33): Show |
intron_variant | MODIFIER | c.188-2371C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799556 | |||||||
| chr3:196799814 | A | G | 147 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(144): Show |
147 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(144): Show |
intron_variant | MODIFIER | c.188-2113A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799814 | |||||||
| chr3:196799972 | C | T | 1 | a0001c0001t0046g0033 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.188-1955C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196799972 | |||||||
| chr3:196800077 | A | G | 1 | a0001c0001t0010g0140 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.188-1850A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800077 | |||||||
| chr3:196800083 | C | T | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-1844C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800083 | |||||||
| chr3:196800238 | C | A | 4 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(1): Show |
4 | HG02280.hp2 HG02738.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.188-1689C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800238 | |||||||
| chr3:196800360 | C | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.188-1567C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800360 | |||||||
| chr3:196800406 | G | T | 2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | NA18945.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.188-1521G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800406 | |||||||
| chr3:196800416 | T | A | 5 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(2): Show |
5 | HG02818.hp2 HG03041.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.188-1511T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800416 | |||||||
| chr3:196800416 | T | G | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.188-1511T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800416 | |||||||
| chr3:196800518 | A | G | 1 | a0001c0001t0009g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.188-1409A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800518 | |||||||
| chr3:196800792 | T | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.188-1135T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800792 | |||||||
| chr3:196800845 | A | G | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.188-1082A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196800845 | |||||||
| chr3:196801266 | A | G | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.188-661A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196801266 | |||||||
| chr3:196801354 | C | T | 1 | a0001c0001t0003g0056 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.188-573C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196801354 | |||||||
| chr3:196801461 | T | A | 5 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(2): Show |
5 | HG01255.hp1 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.188-466T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196801461 | |||||||
| chr3:196801569 | G | A | 40 | a0001c0001t0001g0141 a0001c0001t0002g0111 a0001c0001t0004g0029 others(37): Show |
40 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.188-358G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196801569 | |||||||
| chr3:196801789 | C | T | 5 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(2): Show |
5 | HG01255.hp1 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.188-138C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 2/14 | chr3 | 196801789 | |||||||
| chr3:196802044 | C | T | 3 | a0001c0001t0011g0145 a0001c0001t0035g0144 a0001c0001t0036g0041 |
3 | HG02280.hp1 HG02630.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.288+17C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 3/14 | chr3 | 196802044 | |||||||
| chr3:196802557 | C | A | 1 | a0001c0001t0002g0094 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.289-460C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 3/14 | chr3 | 196802557 | |||||||
| chr3:196802615 | C | T | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.289-402C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 3/14 | chr3 | 196802615 | |||||||
| chr3:196802867 | T | C | 2 | a0001c0001t0021g0042 a0001c0001t0034g0009 |
2 | NA19043.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.289-150T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 3/14 | chr3 | 196802867 | |||||||
| chr3:196802950 | A | G | 4 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(1): Show |
4 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-67A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 3/14 | chr3 | 196802950 | |||||||
| chr3:196803275 | G | A | 1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.436+111G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803275 | |||||||
| chr3:196803565 | A | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.436+401A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803565 | |||||||
| chr3:196803672 | C | T | 15 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0033g0043 others(12): Show |
15 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(12): Show |
intron_variant | MODIFIER | c.436+508C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803672 | |||||||
| chr3:196803752 | C | A | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.436+588C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803752 | |||||||
| chr3:196803795 | C | G | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.436+631C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803795 | |||||||
| chr3:196803881 | G | A | 37 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.436+717G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803881 | |||||||
| chr3:196803975 | A | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.436+811A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196803975 | |||||||
| chr3:196804056 | C | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.436+892C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804056 | |||||||
| chr3:196804395 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.437-957C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804395 | |||||||
| chr3:196804450 | C | T | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.437-902C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804450 | |||||||
| chr3:196804460 | T | C | 1 | a0001c0002t0013g0142 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.437-892T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804460 | |||||||
| chr3:196804462 | CGTGT | C | 9 | a0001c0001t0001g0141 a0001c0001t0010g0140 a0001c0001t0011g0137 others(6): Show |
9 | HG01346.hp1 HG02451.hp2 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.437-883_437-880del others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804462 | ||||||
| chr3:196804466 | T | C | 1 | a0001c0002t0013g0142 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.437-886T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804466 | |||||||
| chr3:196804553 | C | T | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.437-799C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804553 | |||||||
| chr3:196804560 | C | G | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.437-792C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804560 | |||||||
| chr3:196804619 | C | T | 4 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(1): Show |
4 | HG02280.hp2 HG02738.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.437-733C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804619 | |||||||
| chr3:196804727 | CCAAAGTG others(16): Show |
C | 1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.437-624_437-602del others(23): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804727 | |||||||
| chr3:196804773 | C | T | 62 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(59): Show |
62 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(59): Show |
intron_variant | MODIFIER | c.437-579C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804773 | |||||||
| chr3:196804787 | GAT | G | 2 | a0001c0001t0021g0042 a0001c0001t0034g0009 |
2 | NA19043.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.437-562_437-561del others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804787 | ||||||
| chr3:196804805 | T | A | 3 | a0001c0001t0001g0032 a0001c0001t0012g0034 a0001c0001t0046g0033 |
3 | NA18612.hp1 NA18983.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.437-547T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804805 | |||||||
| chr3:196804807 | A | T | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.437-545A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804807 | |||||||
| chr3:196804808 | T | G | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.437-544T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804808 | |||||||
| chr3:196804822 | TATAC | T | 92 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(89): Show |
92 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(89): Show |
intron_variant | MODIFIER | c.437-528_437-525del others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804822 | ||||||
| chr3:196804824 | T | C | 7 | a0001c0001t0017g0103 a0001c0001t0036g0041 a0001c0001t0038g0060 others(4): Show |
7 | HG00738.hp2 HG02300.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.437-528T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804824 | |||||||
| chr3:196804826 | C | T | 6 | a0001c0001t0003g0158 a0001c0001t0007g0164 a0001c0001t0021g0042 others(3): Show |
6 | HG02055.hp1 HG03654.hp1 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.437-526C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804826 | |||||||
| chr3:196804826 | CACATAT | C | 6 | a0001c0001t0017g0103 a0001c0001t0038g0060 a0001c0001t0039g0130 others(3): Show |
6 | HG00738.hp2 HG02300.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.437-524_437-519del others(6): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804826 | ||||||
| chr3:196804828 | C | T | 1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.437-524C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804828 | |||||||
| chr3:196804828 | CAT | C | 23 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0003g0158 others(20): Show |
23 | HG01070.hp1 HG01071.hp2 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.437-508_437-507del others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804828 | ||||||
| chr3:196804828 | CATAT | C | 48 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(45): Show |
48 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(45): Show |
intron_variant | MODIFIER | c.437-510_437-507del others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804828 | ||||||
| chr3:196804830 | T | C | 94 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(91): Show |
94 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.437-522T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804830 | |||||||
| chr3:196804832 | T | C | 8 | a0001c0001t0003g0158 a0001c0001t0007g0164 a0001c0001t0015g0005 others(5): Show |
8 | HG02055.hp1 HG02683.hp2 HG03654.hp1 others(5): Show |
intron_variant | MODIFIER | c.437-520T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804832 | |||||||
| chr3:196804833 | A | G | 5 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(2): Show |
5 | HG02818.hp2 HG03041.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.437-519A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804833 | |||||||
| chr3:196804844 | T | C | 6 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(3): Show |
6 | HG01975.hp1 HG02055.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.437-508T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804844 | |||||||
| chr3:196804846 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.437-506C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804846 | |||||||
| chr3:196804854 | C | T | 4 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(1): Show |
4 | HG02280.hp2 HG02738.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.437-498C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804854 | |||||||
| chr3:196804856 | T | C | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.437-496T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804856 | |||||||
| chr3:196804858 | T | C | 4 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(1): Show |
4 | HG02280.hp2 HG02738.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.437-494T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804858 | |||||||
| chr3:196804858 | TACAC | T | 2 | a0001c0001t0002g0086 a0001c0001t0002g0089 |
2 | HG01934.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.437-482_437-479del others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | 196804858 | ||||||
| chr3:196804860 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.437-492C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804860 | |||||||
| chr3:196804966 | A | C | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.437-386A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804966 | |||||||
| chr3:196804989 | G | A | 4 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(1): Show |
4 | HG01255.hp1 HG02055.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.437-363G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196804989 | |||||||
| chr3:196805177 | C | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.437-175C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196805177 | |||||||
| chr3:196805186 | T | C | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.437-166T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196805186 | |||||||
| chr3:196805346 | A | T | 1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | splice_region_variant&intron_variant | LOW | c.437-6A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4/14 | chr3 | 196805346 | |||||||
| chr3:196805729 | T | C | 1 | a0001c0001t0013g0127 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.468+346T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196805729 | |||||||
| chr3:196805803 | A | G | 3 | a0001c0001t0002g0070 a0001c0001t0002g0088 a0001c0001t0002g0095 |
3 | HG02135.hp1 NA18945.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.468+420A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196805803 | |||||||
| chr3:196805865 | G | GGAGTTTT others(25): Show |
1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.468+483_468+514dup others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | 196805865 | ||||||
| chr3:196805920 | T | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.468+537T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196805920 | |||||||
| chr3:196805935 | A | G | 166 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(163): Show |
166 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.468+552A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196805935 | |||||||
| chr3:196806068 | C | T | 30 | a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0149 others(27): Show |
30 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(27): Show |
intron_variant | MODIFIER | c.469-511C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196806068 | |||||||
| chr3:196806101 | C | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.469-478C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196806101 | |||||||
| chr3:196806248 | G | A | 37 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.469-331G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196806248 | |||||||
| chr3:196806342 | A | G | 4 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(1): Show |
4 | HG02280.hp2 HG02738.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.469-237A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196806342 | |||||||
| chr3:196806449 | C | A | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.469-130C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196806449 | |||||||
| chr3:196806519 | C | T | 2 | a0001c0001t0021g0042 a0001c0001t0034g0009 |
2 | NA19043.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.469-60C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 5/14 | chr3 | 196806519 | |||||||
| chr3:196806699 | C | T | 1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.576+13C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196806699 | |||||||
| chr3:196806800 | G | A | 40 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(37): Show |
40 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(37): Show |
intron_variant | MODIFIER | c.576+114G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196806800 | |||||||
| chr3:196806873 | T | A | 8 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(5): Show |
8 | HG00738.hp2 HG02280.hp2 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.576+187T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196806873 | |||||||
| chr3:196807014 | T | C | 33 | a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0149 others(30): Show |
33 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(30): Show |
intron_variant | MODIFIER | c.576+328T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807014 | |||||||
| chr3:196807104 | A | G | 26 | a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0149 others(23): Show |
26 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(23): Show |
intron_variant | MODIFIER | c.576+418A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807104 | |||||||
| chr3:196807120 | G | C | 3 | a0001c0001t0039g0130 a0001c0001t0040g0175 a0001c0001t0051g0160 |
3 | HG00738.hp2 HG02300.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.576+434G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807120 | |||||||
| chr3:196807136 | A | T | 8 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(5): Show |
8 | HG00738.hp2 HG02280.hp2 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.576+450A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807136 | |||||||
| chr3:196807142 | G | C | 1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.576+456G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807142 | |||||||
| chr3:196807367 | G | T | 1 | a0001c0002t0059g0113 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.577-415G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807367 | |||||||
| chr3:196807381 | TAAAAACT others(20): Show |
T | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.577-400_577-374del others(27): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | chr3 | 196807381 | |||||||
| chr3:196807690 | A | AGGTTAAA others(13): Show |
1 | a0001c0001t0001g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.577-91_577-72dupGG others(18): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | 196807690 | ||||||
| chr3:196808032 | T | A | 7 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(4): Show |
7 | HG00642.hp1 HG02818.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.709+118T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808032 | |||||||
| chr3:196808068 | T | C | 5 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(2): Show |
5 | HG01255.hp1 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.709+154T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808068 | |||||||
| chr3:196808175 | G | T | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.709+261G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808175 | |||||||
| chr3:196808256 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0008g0068 |
2 | NA18940.hp1 NA18940.hp2 |
intron_variant | MODIFIER | c.709+342G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808256 | |||||||
| chr3:196808272 | G | A | 8 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(5): Show |
8 | HG00738.hp2 HG02280.hp2 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.709+358G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808272 | |||||||
| chr3:196808277 | G | A | 46 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0163 others(43): Show |
46 | HG00544.hp1 HG00544.hp2 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.709+363G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808277 | |||||||
| chr3:196808301 | G | A | 4 | a0001c0001t0010g0140 a0001c0002t0005g0136 a0001c0002t0013g0142 others(1): Show |
4 | HG02615.hp1 HG02897.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.709+387G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808301 | |||||||
| chr3:196808305 | G | T | 1 | a0001c0001t0022g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.709+391G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808305 | |||||||
| chr3:196808348 | G | A | 1 | a0001c0001t0002g0095 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.709+434G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808348 | |||||||
| chr3:196808371 | G | C | 1 | a0001c0001t0035g0144 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.709+457G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808371 | |||||||
| chr3:196808462 | G | T | 4 | a0001c0001t0033g0043 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02055.hp1 HG02647.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.709+548G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808462 | |||||||
| chr3:196808483 | C | T | 9 | a0001c0003t0006g0015 a0001c0003t0006g0066 a0001c0003t0006g0067 others(6): Show |
9 | HG00544.hp1 HG01070.hp2 HG01934.hp1 others(6): Show |
intron_variant | MODIFIER | c.709+569C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808483 | |||||||
| chr3:196808557 | C | CA | 18 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0002g0081 others(15): Show |
18 | HG01255.hp2 HG01346.hp2 HG01934.hp2 others(15): Show |
intron_variant | MODIFIER | c.709+661dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA | 8 | a0001c0001t0023g0125 a0001c0001t0025g0116 a0001c0001t0025g0121 others(5): Show |
8 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.709+655_709+661dup others(7): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(3): Show |
13 | a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 others(10): Show |
13 | HG00558.hp2 HG01074.hp2 HG02300.hp2 others(10): Show |
intron_variant | MODIFIER | c.709+652_709+661dup others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(4): Show |
17 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0156 others(14): Show |
17 | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(14): Show |
intron_variant | MODIFIER | c.709+651_709+661dup others(11): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(5): Show |
2 | a0001c0001t0003g0158 a0001c0002t0057g0077 |
2 | HG02818.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.709+650_709+661dup others(12): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(6): Show |
2 | a0001c0001t0005g0059 a0001c0001t0034g0009 |
2 | HG01255.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.709+649_709+661dup others(13): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(7): Show |
1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.709+648_709+661dup others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(9): Show |
3 | a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0103 |
3 | HG02055.hp2 HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.709+646_709+661dup others(16): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(10): Show |
1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.709+645_709+661dup others(17): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(16): Show |
1 | a0001c0001t0020g0134 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.709+661_709+662ins others(23): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(17): Show |
1 | a0001c0001t0020g0133 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.709+661_709+662ins others(24): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | C | CAAAAAAA others(23): Show |
1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.709+661_709+662ins others(30): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808557 | CA | C | 31 | a0001c0001t0001g0045 a0001c0001t0004g0029 a0001c0001t0004g0036 others(28): Show |
31 | HG00544.hp1 HG01070.hp1 HG01070.hp2 others(28): Show |
intron_variant | MODIFIER | c.709+661delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808557 | ||||||
| chr3:196808715 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.709+801G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808715 | |||||||
| chr3:196808759 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.709+845G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808759 | |||||||
| chr3:196808826 | A | G | 2 | a0001c0001t0016g0076 a0001c0001t0016g0110 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.709+912A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808826 | |||||||
| chr3:196808847 | C | T | 4 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0053g0006 others(1): Show |
4 | HG02895.hp2 HG03540.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.709+933C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808847 | |||||||
| chr3:196808928 | G | T | 166 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(163): Show |
166 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.709+1014G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196808928 | |||||||
| chr3:196808951 | T | TA | 39 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(36): Show |
39 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(36): Show |
intron_variant | MODIFIER | c.709+1040dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196808951 | ||||||
| chr3:196809163 | G | T | 10 | a0001c0001t0008g0068 a0001c0003t0006g0015 a0001c0003t0006g0066 others(7): Show |
10 | HG00544.hp1 HG01070.hp2 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.709+1249G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809163 | |||||||
| chr3:196809172 | C | T | 38 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0138 others(35): Show |
38 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(35): Show |
intron_variant | MODIFIER | c.709+1258C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809172 | |||||||
| chr3:196809273 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.710-1317C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809273 | |||||||
| chr3:196809274 | C | A | 1 | a0001c0001t0001g0012 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.710-1316C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809274 | |||||||
| chr3:196809323 | G | C | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.710-1267G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809323 | |||||||
| chr3:196809324 | C | T | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.710-1266C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809324 | |||||||
| chr3:196809328 | T | TA | 14 | a0001c0001t0008g0068 a0001c0001t0021g0042 a0001c0001t0034g0009 others(11): Show |
14 | HG00544.hp1 HG01070.hp2 HG01934.hp1 others(11): Show |
intron_variant | MODIFIER | c.710-1261dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196809328 | ||||||
| chr3:196809348 | C | CT | 119 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(116): Show |
119 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(116): Show |
intron_variant | MODIFIER | c.710-1223dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196809348 | ||||||
| chr3:196809348 | C | CTT | 8 | a0001c0001t0001g0023 a0001c0001t0002g0095 a0001c0001t0003g0155 others(5): Show |
8 | HG03834.hp2 HG04199.hp2 NA18953.hp1 others(5): Show |
intron_variant | MODIFIER | c.710-1224_710-1223d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196809348 | ||||||
| chr3:196809348 | CT | C | 7 | a0001c0001t0005g0059 a0001c0001t0017g0101 a0001c0001t0033g0043 others(4): Show |
7 | HG01255.hp1 HG02055.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.710-1223delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196809348 | ||||||
| chr3:196809411 | G | A | 1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.710-1179G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809411 | |||||||
| chr3:196809530 | G | C | 61 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(58): Show |
61 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.710-1060G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809530 | |||||||
| chr3:196809586 | G | T | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.710-1004G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809586 | |||||||
| chr3:196809653 | T | TA | 9 | a0001c0001t0001g0008 a0001c0001t0002g0090 a0001c0001t0017g0103 others(6): Show |
9 | HG02055.hp1 HG02074.hp1 HG02074.hp2 others(6): Show |
intron_variant | MODIFIER | c.710-921dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196809653 | ||||||
| chr3:196809653 | TA | T | 12 | a0001c0001t0001g0045 a0001c0001t0004g0037 a0001c0001t0004g0123 others(9): Show |
12 | HG00639.hp1 HG00639.hp2 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.710-921delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196809653 | ||||||
| chr3:196809654 | A | T | 4 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(1): Show |
4 | HG01255.hp1 HG02055.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.710-936A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809654 | |||||||
| chr3:196809693 | C | A | 4 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(1): Show |
4 | HG02280.hp2 HG02738.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.710-897C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809693 | |||||||
| chr3:196809770 | C | T | 1 | a0001c0001t0002g0078 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.710-820C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809770 | |||||||
| chr3:196809779 | T | C | 1 | a0001c0001t0004g0118 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.710-811T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809779 | |||||||
| chr3:196809824 | C | G | 166 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(163): Show |
166 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.710-766C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196809824 | |||||||
| chr3:196810023 | A | ATAAGTGG others(54): Show |
1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.710-536_710-535ins others(61): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196810023 | ||||||
| chr3:196810040 | T | C | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.710-550T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810040 | |||||||
| chr3:196810055 | A | T | 166 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(163): Show |
166 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.710-535A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810055 | |||||||
| chr3:196810060 | A | G | 1 | a0001c0002t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.710-530A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810060 | |||||||
| chr3:196810064 | TG | T | 2 | a0001c0001t0004g0037 a0001c0001t0037g0053 |
2 | HG03139.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.710-524delG | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196810064 | ||||||
| chr3:196810088 | G | A | 8 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 others(5): Show |
8 | HG00738.hp2 HG02280.hp2 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.710-502G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810088 | |||||||
| chr3:196810128 | T | TCAAACTT others(23): Show |
1 | a0001c0001t0061g0102 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.710-461_710-432dup others(30): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196810128 | ||||||
| chr3:196810246 | T | A | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.710-344T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810246 | |||||||
| chr3:196810254 | T | A | 4 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0053g0006 others(1): Show |
4 | HG02895.hp2 HG03540.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.710-336T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810254 | |||||||
| chr3:196810319 | TTAGGAGG others(15): Show |
T | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.710-270_710-249del others(22): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810319 | |||||||
| chr3:196810430 | C | T | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.710-160C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810430 | |||||||
| chr3:196810431 | T | C | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.710-159T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | chr3 | 196810431 | |||||||
| chr3:196810496 | A | AAAAACAG others(20): Show |
1 | a0001c0001t0016g0076 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.710-91_710-65dupAA others(25): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr3 | 196810496 | ||||||
| chr3:196810735 | C | T | 3 | a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0007t0044g0054 |
3 | HG02895.hp1 HG02897.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.773+82C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810735 | |||||||
| chr3:196810780 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.773+127G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810780 | |||||||
| chr3:196810801 | G | A | 4 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0053g0006 others(1): Show |
4 | HG02895.hp2 HG03540.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.773+148G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810801 | |||||||
| chr3:196810863 | AT | A | 3 | a0001c0001t0001g0023 a0001c0001t0002g0092 a0001c0001t0007g0164 |
3 | NA18953.hp1 NA18953.hp2 NA18970.hp2 |
intron_variant | MODIFIER | c.773+216delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196810863 | ||||||
| chr3:196810871 | T | A | 1 | a0001c0001t0002g0092 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.773+218T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810871 | |||||||
| chr3:196810872 | T | C | 1 | a0001c0001t0002g0092 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.773+219T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810872 | |||||||
| chr3:196810873 | A | ACGCGAGA others(3): Show |
1 | a0001c0001t0002g0092 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.773+220_773+221ins others(10): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810873 | |||||||
| chr3:196810875 | G | T | 1 | a0001c0001t0002g0092 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.773+222G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810875 | |||||||
| chr3:196810946 | A | ATTTACTG others(4): Show |
1 | a0001c0001t0047g0011 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.773+294_773+304dup others(11): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196810946 | ||||||
| chr3:196810976 | T | G | 7 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(4): Show |
7 | HG00642.hp1 HG02818.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.773+323T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810976 | |||||||
| chr3:196810982 | T | A | 1 | a0001c0001t0002g0090 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.773+329T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196810982 | |||||||
| chr3:196811040 | A | G | 3 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0055g0146 |
3 | HG03540.hp1 NA19043.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.773+387A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811040 | |||||||
| chr3:196811041 | A | T | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.773+388A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811041 | |||||||
| chr3:196811073 | C | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+420C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811073 | |||||||
| chr3:196811074 | T | C | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+421T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811074 | |||||||
| chr3:196811088 | TG | T | 2 | a0001c0001t0039g0130 a0003c0006t0010g0104 |
2 | HG02818.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.773+437delG | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811088 | ||||||
| chr3:196811109 | AT | A | 3 | a0001c0001t0002g0090 a0001c0001t0007g0164 a0001c0001t0053g0006 |
3 | HG02074.hp2 HG02895.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.773+461delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811109 | ||||||
| chr3:196811113 | T | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+460T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811113 | |||||||
| chr3:196811114 | T | A | 1 | a0001c0001t0065g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.773+461T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811114 | |||||||
| chr3:196811142 | T | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+489T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811142 | |||||||
| chr3:196811147 | AT | A | 2 | a0001c0001t0004g0037 a0001c0001t0056g0154 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.773+497delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811147 | ||||||
| chr3:196811167 | C | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+514C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811167 | |||||||
| chr3:196811169 | A | C | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+516A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811169 | |||||||
| chr3:196811169 | AT | A | 3 | a0001c0001t0047g0011 a0001c0002t0005g0136 a0001c0002t0010g0105 |
3 | HG02897.hp1 HG02922.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.773+521delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811169 | ||||||
| chr3:196811170 | T | A | 1 | a0001c0001t0065g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.773+517T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811170 | |||||||
| chr3:196811173 | T | G | 1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.773+520T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811173 | |||||||
| chr3:196811176 | A | G | 1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.773+523A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811176 | |||||||
| chr3:196811177 | A | ATCTGTGA others(6): Show |
1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+524_773+525ins others(13): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811177 | |||||||
| chr3:196811180 | C | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+527C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811180 | |||||||
| chr3:196811182 | T | C | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+529T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811182 | |||||||
| chr3:196811184 | C | A | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+531C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811184 | |||||||
| chr3:196811185 | A | G | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+532A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811185 | |||||||
| chr3:196811191 | A | AGGAAAGG others(1075): Show |
1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+538_773+539ins others(1082): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811191 | |||||||
| chr3:196811191 | A | ATTCCTTC others(643): Show |
1 | a0001c0001t0001g0045 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(650): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811191 | ||||||
| chr3:196811191 | A | ATTCCTTC others(675): Show |
1 | a0001c0001t0029g0044 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(682): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811191 | ||||||
| chr3:196811193 | T | C | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+540T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811193 | |||||||
| chr3:196811197 | T | TC | 11 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.773+546dupC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2): Show |
33 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0138 others(30): Show |
33 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(30): Show |
intron_variant | MODIFIER | c.773+546_773+554dup others(9): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1771): Show |
1 | a0001c0001t0001g0023 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1778): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(3119): Show |
1 | a0001c0001t0052g0171 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3126): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(653): Show |
1 | a0001c0001t0028g0174 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(660): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(3658): Show |
1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3665): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2902): Show |
1 | a0001c0001t0010g0140 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2909): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1692): Show |
1 | a0001c0001t0035g0144 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1699): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(938): Show |
1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(945): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(320): Show |
1 | a0001c0001t0004g0118 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(327): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1937): Show |
1 | a0001c0001t0001g0008 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1944): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2694): Show |
1 | a0001c0001t0020g0133 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2701): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2719): Show |
1 | a0001c0001t0020g0134 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2726): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(4574): Show |
1 | a0001c0001t0015g0170 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(4581): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1107): Show |
1 | a0001c0001t0007g0071 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1114): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1125): Show |
1 | a0001c0001t0017g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1132): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1120): Show |
1 | a0001c0001t0017g0103 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1127): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1206): Show |
1 | a0001c0001t0017g0100 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1213): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(104): Show |
1 | a0001c0001t0004g0029 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(111): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1332): Show |
1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1339): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2885): Show |
1 | a0001c0001t0001g0002 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2892): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1052): Show |
1 | a0001c0001t0002g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1059): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(243): Show |
1 | a0001c0001t0002g0096 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(250): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2058): Show |
1 | a0001c0001t0002g0094 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2065): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2262): Show |
1 | a0001c0001t0002g0079 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2269): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(138): Show |
1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(145): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(961): Show |
1 | a0001c0001t0018g0084 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(968): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2760): Show |
1 | a0001c0001t0003g0031 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2767): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(907): Show |
1 | a0001c0001t0001g0040 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(914): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1398): Show |
1 | a0001c0001t0001g0039 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1405): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1621): Show |
2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | NA18945.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.773+554_773+555ins others(1628): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(494): Show |
1 | a0001c0001t0001g0024 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(501): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1109): Show |
1 | a0001c0001t0003g0056 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1116): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(3509): Show |
1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3516): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(739): Show |
1 | a0001c0001t0018g0083 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(746): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(856): Show |
1 | a0001c0001t0018g0108 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(863): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(605): Show |
1 | a0001c0001t0049g0018 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(612): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1951): Show |
1 | a0001c0001t0002g0088 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1958): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(1759): Show |
1 | a0001c0001t0001g0028 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1766): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(4987): Show |
1 | a0001c0001t0002g0114 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(4994): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(3099): Show |
1 | a0001c0001t0002g0095 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(3106): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(866): Show |
1 | a0001c0001t0002g0078 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(873): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(3000): Show |
1 | a0001c0002t0013g0142 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3007): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(6244): Show |
1 | a0001c0001t0047g0011 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(6251): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(2500): Show |
1 | a0001c0001t0065g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.773+555_773+556ins others(2507): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(3203): Show |
1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.773+555_773+556ins others(3210): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811197 | T | TCCTCCCT others(234): Show |
1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.773+569_773+570ins others(241): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811197 | ||||||
| chr3:196811199 | C | CTCCCTTC others(3064): Show |
1 | a0001c0001t0011g0145 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3071): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811199 | ||||||
| chr3:196811199 | C | CTCCCTTC others(4307): Show |
1 | a0001c0001t0007g0165 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(4314): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811199 | ||||||
| chr3:196811199 | C | CTCCCTTC others(2471): Show |
1 | a0001c0001t0001g0163 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2478): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811199 | ||||||
| chr3:196811199 | C | CTCCCTTC others(2296): Show |
1 | a0001c0001t0026g0099 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2303): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811199 | ||||||
| chr3:196811199 | C | CTCCCTTC others(2754): Show |
1 | a0001c0001t0001g0012 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2761): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811199 | ||||||
| chr3:196811201 | C | CCCTTCCC others(5651): Show |
1 | a0002c0005t0001g0157 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(5658): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(2327): Show |
1 | a0001c0001t0001g0167 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2334): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(3559): Show |
1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3566): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(1625): Show |
1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1632): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(3703): Show |
1 | a0001c0001t0001g0016 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(3710): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(2006): Show |
1 | a0001c0001t0012g0034 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2013): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(1724): Show |
1 | a0001c0001t0001g0017 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1731): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(2369): Show |
1 | a0001c0001t0001g0166 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2376): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(2409): Show |
1 | a0001c0001t0001g0038 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2416): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(3406): Show |
1 | a0001c0001t0001g0035 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(3413): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(2211): Show |
1 | a0001c0001t0046g0033 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(2218): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(4276): Show |
1 | a0001c0001t0068g0091 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(4283): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811201 | C | CCCTTCCC others(1713): Show |
1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1720): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811201 | ||||||
| chr3:196811204 | T | TTCCCTCC others(4134): Show |
1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(4141): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(1213): Show |
1 | a0001c0001t0001g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1220): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(1706): Show |
1 | a0001c0001t0002g0092 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1713): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(324): Show |
1 | a0001c0001t0009g0027 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(331): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(2014): Show |
1 | a0001c0001t0022g0021 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(2021): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(980): Show |
1 | a0001c0001t0009g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(987): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(3281): Show |
1 | a0001c0001t0002g0106 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(3288): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811204 | T | TTCCCTCC others(1419): Show |
1 | a0001c0001t0002g0081 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1426): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811204 | ||||||
| chr3:196811205 | T | TCCCTCCC others(1394): Show |
1 | a0001c0001t0051g0160 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.773+554_773+555ins others(1401): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811205 | ||||||
| chr3:196811205 | T | TCCCTCCC others(1903): Show |
1 | a0001c0001t0040g0175 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.773+554_773+555ins others(1910): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811205 | ||||||
| chr3:196811205 | TCCTTCCC others(11): Show |
T | 3 | a0001c0001t0060g0107 a0001c0001t0063g0109 a0001c0002t0005g0047 |
3 | HG02451.hp1 HG03209.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.773+566_773+583del others(18): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811205 | ||||||
| chr3:196811208 | T | C | 58 | a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0141 others(55): Show |
58 | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(55): Show |
intron_variant | MODIFIER | c.773+555T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811208 | |||||||
| chr3:196811208 | T | TCCCTTCC others(641): Show |
1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.773+555_773+556ins others(648): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811208 | |||||||
| chr3:196811208 | T | TCCCTTCC others(406): Show |
1 | a0001c0001t0026g0098 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.773+555_773+556ins others(413): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811208 | |||||||
| chr3:196811208 | T | TCCCTTCC others(2376): Show |
1 | a0003c0006t0010g0104 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.773+555_773+556ins others(2383): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811208 | |||||||
| chr3:196811208 | T | TTCCCTTC others(298): Show |
1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(305): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811208 | ||||||
| chr3:196811210 | C | CCCTTCCC others(2137): Show |
1 | a0001c0001t0061g0102 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.773+569_773+570ins others(2144): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811210 | C | CCCTTCCT others(245): Show |
1 | a0001c0004t0019g0057 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(252): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811210 | C | CCCTTCCT others(715): Show |
1 | a0001c0001t0011g0137 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(722): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811210 | C | CCCTTCCT others(556): Show |
1 | a0001c0001t0001g0032 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(563): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811210 | C | CCCTTCCT others(2653): Show |
1 | a0001c0001t0003g0010 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(2660): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811210 | C | CCCTTCCT others(1380): Show |
1 | a0001c0001t0004g0124 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(1387): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811210 | C | CCCTTCCT others(7604): Show |
1 | a0001c0001t0002g0090 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(7611): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811210 | ||||||
| chr3:196811213 | T | TTCCTTCC others(403): Show |
1 | a0001c0001t0004g0120 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(410): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(307): Show |
1 | a0001c0001t0004g0123 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(314): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(434): Show |
1 | a0001c0001t0004g0036 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(441): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(765): Show |
1 | a0001c0002t0030g0131 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(772): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(356): Show |
1 | a0001c0001t0014g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(363): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(274): Show |
1 | a0001c0001t0014g0176 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(281): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(4155): Show |
1 | a0001c0001t0042g0001 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(4162): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(374): Show |
1 | a0001c0001t0014g0177 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(381): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(2958): Show |
1 | a0001c0001t0009g0119 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(2965): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(521): Show |
1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(528): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(1236): Show |
1 | a0001c0001t0005g0048 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(1243): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(1691): Show |
1 | a0001c0001t0031g0050 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(1698): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(2028): Show |
1 | a0001c0001t0005g0049 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(2035): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(1620): Show |
1 | a0001c0001t0005g0051 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(1627): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811213 | T | TTCCTTCC others(794): Show |
1 | a0001c0001t0009g0126 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(801): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811213 | ||||||
| chr3:196811214 | T | C | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+561T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811214 | |||||||
| chr3:196811214 | T | TCCTTCCC others(1124): Show |
1 | a0001c0001t0021g0159 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.773+563_773+564ins others(1131): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811214 | ||||||
| chr3:196811215 | C | CCTTCCCT others(463): Show |
1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(470): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811215 | ||||||
| chr3:196811215 | C | CCTTCCCT others(6815): Show |
1 | a0001c0001t0007g0164 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.773+563_773+564ins others(6822): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811215 | ||||||
| chr3:196811217 | C | T | 31 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0163 others(28): Show |
31 | HG00544.hp2 HG00738.hp2 HG01074.hp2 others(28): Show |
intron_variant | MODIFIER | c.773+564C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811217 | |||||||
| chr3:196811218 | T | TA | 36 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0138 others(33): Show |
36 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.773+565_773+566ins others(1): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811218 | |||||||
| chr3:196811219 | C | T | 1 | a0001c0001t0007g0164 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.773+566C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811219 | |||||||
| chr3:196811221 | C | CT | 10 | a0001c0001t0001g0141 a0001c0001t0013g0127 a0001c0001t0045g0025 others(7): Show |
10 | HG01346.hp1 HG02004.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.773+569dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811221 | ||||||
| chr3:196811221 | C | CTTCCCTA others(3979): Show |
1 | a0001c0002t0005g0136 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.773+569_773+570ins others(3986): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811221 | ||||||
| chr3:196811221 | C | T | 2 | a0001c0001t0001g0152 a0001c0001t0069g0072 |
2 | HG01169.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.773+568C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811221 | |||||||
| chr3:196811223 | C | T | 77 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 others(74): Show |
77 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.773+570C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811223 | |||||||
| chr3:196811226 | T | C | 15 | a0001c0001t0004g0029 a0001c0001t0004g0118 a0001c0001t0011g0145 others(12): Show |
15 | HG00738.hp2 HG01255.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.773+573T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TAACCCTC others(6404): Show |
1 | a0001c0001t0053g0006 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(6411): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(1537): Show |
1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(1544): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(1531): Show |
1 | a0001c0004t0027g0058 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(1538): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(3281): Show |
1 | a0001c0001t0062g0085 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(3288): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(1241): Show |
1 | a0001c0001t0001g0141 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.773+573_773+574ins others(1248): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(3018): Show |
1 | a0001c0002t0010g0105 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(3025): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(2048): Show |
1 | a0001c0002t0057g0077 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(2055): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(996): Show |
1 | a0001c0001t0013g0127 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(1003): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TACCCTCC others(5441): Show |
1 | a0001c0001t0045g0025 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.773+573_773+574ins others(5448): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811226 | |||||||
| chr3:196811226 | T | TTCCCTTC others(1040): Show |
1 | a0001c0003t0006g0066 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.773+583_773+584ins others(1047): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811226 | ||||||
| chr3:196811226 | T | TTCCCTTC others(689): Show |
1 | a0001c0003t0006g0122 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.773+583_773+584ins others(696): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811226 | ||||||
| chr3:196811226 | T | TTCCTTCC others(1537): Show |
1 | a0001c0002t0001g0003 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.773+576_773+577ins others(1544): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811226 | ||||||
| chr3:196811227 | T | A | 1 | a0001c0001t0055g0146 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.773+574T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811227 | |||||||
| chr3:196811227 | TC | T | 5 | a0001c0001t0001g0002 a0001c0001t0034g0009 a0001c0001t0052g0171 others(2): Show |
5 | HG01074.hp2 HG03490.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.773+577delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811227 | ||||||
| chr3:196811228 | C | CCCTCCCT others(4120): Show |
1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.773+578_773+579ins others(4127): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811228 | ||||||
| chr3:196811228 | C | CCTTCCCT others(729): Show |
1 | a0001c0002t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.773+576_773+577ins others(736): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811228 | ||||||
| chr3:196811228 | C | T | 2 | a0001c0001t0040g0175 a0001c0001t0051g0160 |
2 | HG00738.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.773+575C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811228 | |||||||
| chr3:196811230 | CT | C | 62 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(59): Show |
62 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(59): Show |
intron_variant | MODIFIER | c.773+579delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811230 | ||||||
| chr3:196811231 | T | C | 1 | a0001c0002t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.773+578T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811231 | |||||||
| chr3:196811231 | T | TCCCTCTC others(3373): Show |
1 | a0001c0001t0055g0146 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.773+578_773+579ins others(3380): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811231 | |||||||
| chr3:196811231 | T | TCCCTTCC others(5): Show |
1 | a0001c0001t0011g0139 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.773+578_773+579ins others(12): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811231 | |||||||
| chr3:196811232 | T | A | 1 | a0001c0001t0001g0152 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.773+579T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811232 | |||||||
| chr3:196811232 | T | C | 15 | a0001c0001t0004g0029 a0001c0001t0013g0127 a0001c0001t0017g0100 others(12): Show |
15 | HG01891.hp1 HG02004.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.773+579T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811232 | |||||||
| chr3:196811232 | T | TCCCTCCC others(948): Show |
1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.773+583_773+584ins others(955): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(653): Show |
1 | a0001c0001t0006g0062 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.773+583_773+584ins others(660): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(799): Show |
1 | a0001c0003t0008g0063 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.773+583_773+584ins others(806): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(709): Show |
1 | a0001c0003t0008g0064 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.773+583_773+584ins others(716): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(533): Show |
1 | a0001c0003t0008g0065 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.773+583_773+584ins others(540): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(920): Show |
1 | a0001c0003t0006g0067 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.773+583_773+584ins others(927): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(1229): Show |
1 | a0001c0003t0006g0015 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.773+583_773+584ins others(1236): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(730): Show |
1 | a0001c0003t0006g0069 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.773+583_773+584ins others(737): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | T | TCCCTCCC others(690): Show |
1 | a0001c0003t0008g0019 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.773+583_773+584ins others(697): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811232 | TC | T | 4 | a0001c0001t0002g0070 a0001c0001t0002g0086 a0001c0001t0002g0089 others(1): Show |
4 | HG01934.hp2 HG03225.hp2 NA18945.hp1 others(1): Show |
intron_variant | MODIFIER | c.773+582delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811232 | ||||||
| chr3:196811235 | C | T | 7 | a0001c0001t0001g0141 a0001c0001t0004g0118 a0001c0001t0005g0059 others(4): Show |
7 | HG01255.hp1 HG01346.hp1 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.773+582C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811235 | |||||||
| chr3:196811237 | T | C | 57 | a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0004g0029 others(54): Show |
57 | HG00544.hp1 HG01070.hp2 HG01074.hp1 others(54): Show |
intron_variant | MODIFIER | c.773+584T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811237 | |||||||
| chr3:196811237 | T | TCCCTCCC others(7): Show |
9 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0038 others(6): Show |
9 | HG01517.hp2 HG01981.hp2 HG02071.hp2 others(6): Show |
intron_variant | MODIFIER | c.773+586_773+587ins others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811237 | ||||||
| chr3:196811237 | T | TCCTTCCT others(2208): Show |
1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.773+590_773+591ins others(2215): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811237 | ||||||
| chr3:196811240 | T | C | 1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.773+587T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811240 | |||||||
| chr3:196811241 | T | C | 3 | a0001c0001t0021g0042 a0001c0001t0033g0043 a0001c0001t0068g0091 |
3 | HG01255.hp2 HG02055.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.773+588T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811241 | |||||||
| chr3:196811244 | C | CT | 5 | a0001c0001t0001g0163 a0001c0001t0021g0159 a0001c0001t0039g0130 others(2): Show |
5 | HG00544.hp2 HG00738.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.773+592dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811244 | ||||||
| chr3:196811244 | C | T | 3 | a0001c0001t0007g0164 a0001c0001t0068g0091 a0001c0007t0044g0054 |
3 | HG01255.hp2 NA18953.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.773+591C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811244 | |||||||
| chr3:196811245 | T | TA | 15 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0032 others(12): Show |
15 | HG00280.hp1 HG00408.hp2 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.773+592_773+593ins others(1): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811245 | |||||||
| chr3:196811248 | C | CTCCCTCC others(2): Show |
3 | a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050 |
3 | HG03041.hp1 HG03130.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.773+599_773+600ins others(9): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811248 | ||||||
| chr3:196811248 | C | T | 2 | a0001c0001t0068g0091 a0001c0007t0044g0054 |
2 | HG01255.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.773+595C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811248 | |||||||
| chr3:196811250 | C | T | 68 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(65): Show |
68 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.773+597C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811250 | |||||||
| chr3:196811253 | C | T | 108 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(105): Show |
108 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.773+600C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811253 | |||||||
| chr3:196811257 | C | CT | 2 | a0001c0001t0007g0164 a0001c0001t0045g0025 |
2 | NA18953.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.773+605dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811257 | ||||||
| chr3:196811257 | C | T | 2 | a0001c0001t0020g0133 a0001c0001t0020g0134 |
2 | HG02280.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.773+604C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811257 | |||||||
| chr3:196811259 | C | T | 2 | a0001c0001t0001g0163 a0001c0001t0037g0053 |
2 | HG00544.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.773+606C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811259 | |||||||
| chr3:196811262 | T | C | 2 | a0001c0001t0021g0042 a0001c0001t0033g0043 |
2 | HG02055.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.773+609T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811262 | |||||||
| chr3:196811263 | T | C | 1 | a0001c0001t0068g0091 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.773+610T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811263 | |||||||
| chr3:196811266 | T | C | 9 | a0001c0001t0001g0163 a0001c0001t0005g0049 a0001c0001t0005g0051 others(6): Show |
9 | HG00544.hp2 HG00642.hp1 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.773+613T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811266 | |||||||
| chr3:196811266 | T | TTCCCTCC others(2022): Show |
1 | a0001c0002t0059g0113 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.773+618_773+619ins others(2029): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTCC others(568): Show |
1 | a0001c0001t0049g0018 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.773+618_773+619ins others(575): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTCC others(180): Show |
1 | a0001c0001t0047g0011 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.773+618_773+619ins others(187): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(687): Show |
1 | a0001c0001t0002g0090 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.773+627_773+628ins others(694): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(283): Show |
2 | a0001c0001t0002g0096 a0001c0001t0002g0114 |
2 | HG01169.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.773+627_773+628ins others(290): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(266): Show |
1 | a0001c0001t0018g0108 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.773+627_773+628ins others(273): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(252): Show |
1 | a0001c0001t0018g0084 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.773+627_773+628ins others(259): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(283): Show |
1 | a0001c0001t0002g0078 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.773+630_773+631ins others(290): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(149): Show |
1 | a0001c0001t0002g0082 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.773+630_773+631ins others(156): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCCTTC others(466): Show |
1 | a0001c0001t0063g0109 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.773+623_773+624ins others(473): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811266 | T | TTCCTTCC others(984): Show |
1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+616_773+617ins others(991): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811266 | ||||||
| chr3:196811268 | C | CCCTTCCT others(3806): Show |
1 | a0001c0001t0003g0173 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(3813): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811268 | ||||||
| chr3:196811268 | C | CCCTTCCT others(952): Show |
1 | a0001c0001t0023g0125 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(959): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811268 | ||||||
| chr3:196811268 | C | CCCTTCCT others(3437): Show |
1 | a0001c0001t0001g0115 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(3444): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811268 | ||||||
| chr3:196811268 | C | CCCTTCCT others(3001): Show |
1 | a0001c0001t0001g0156 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(3008): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811268 | ||||||
| chr3:196811268 | C | CCCTTCCT others(3077): Show |
1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(3084): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811268 | ||||||
| chr3:196811268 | C | CCCTTCCT others(4219): Show |
1 | a0001c0001t0048g0153 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(4226): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811268 | ||||||
| chr3:196811271 | T | TTCCC | 14 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 others(11): Show |
14 | HG00280.hp1 HG01074.hp2 HG02273.hp1 others(11): Show |
intron_variant | MODIFIER | c.773+624_773+627dup others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCCTCC others(1): Show |
2 | a0001c0001t0021g0159 a0001c0001t0039g0130 |
2 | HG02738.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.773+620_773+627dup others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(823): Show |
1 | a0001c0001t0022g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(830): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(952): Show |
1 | a0001c0001t0015g0169 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(959): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(1111): Show |
2 | a0001c0001t0043g0117 a0001c0001t0058g0097 |
2 | HG00639.hp1 HG00639.hp2 |
intron_variant | MODIFIER | c.773+621_773+622ins others(1118): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(1061): Show |
1 | a0001c0001t0025g0121 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(1068): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(1133): Show |
1 | a0001c0001t0023g0172 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(1140): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(789): Show |
1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(796): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(769): Show |
1 | a0001c0001t0025g0116 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(776): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(1673): Show |
1 | a0001c0001t0012g0128 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(1680): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811271 | T | TTCCTTCC others(1824): Show |
1 | a0001c0001t0050g0147 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(1831): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811271 | ||||||
| chr3:196811272 | T | TCCCTA | 5 | a0001c0001t0001g0030 a0001c0001t0002g0086 a0001c0001t0002g0089 others(2): Show |
5 | HG01934.hp2 HG02083.hp2 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.773+623_773+624ins others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811272 | ||||||
| chr3:196811273 | C | CCTTCCTT others(2320): Show |
1 | a0001c0001t0054g0161 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(2327): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(2940): Show |
1 | a0001c0001t0001g0138 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(2947): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(2179): Show |
1 | a0001c0001t0001g0150 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(2186): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(1111): Show |
1 | a0001c0001t0003g0158 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(1118): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(4483): Show |
1 | a0001c0001t0015g0005 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(4490): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(820): Show |
1 | a0001c0001t0012g0129 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(827): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(2120): Show |
1 | a0001c0001t0001g0149 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.773+621_773+622ins others(2127): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(2094): Show |
1 | a0001c0001t0003g0148 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(2101): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(1947): Show |
1 | a0001c0001t0003g0155 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(1954): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811273 | C | CCTTCCTT others(1866): Show |
1 | a0001c0001t0003g0151 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.773+621_773+622ins others(1873): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811273 | ||||||
| chr3:196811275 | C | T | 27 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 others(24): Show |
27 | HG00642.hp1 HG01517.hp2 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.773+622C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811275 | |||||||
| chr3:196811277 | C | A | 1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.773+624C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811277 | |||||||
| chr3:196811277 | C | CCCTT | 7 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0002g0081 others(4): Show |
7 | HG00408.hp2 HG01346.hp2 HG01517.hp1 others(4): Show |
intron_variant | MODIFIER | c.773+627_773+630dup others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811277 | ||||||
| chr3:196811277 | C | T | 28 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 others(25): Show |
28 | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.773+624C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811277 | |||||||
| chr3:196811280 | T | C | 1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.773+627T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811280 | |||||||
| chr3:196811280 | T | TTCCC | 2 | a0001c0001t0001g0002 a0001c0001t0007g0165 |
2 | HG02165.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.773+633_773+636dup others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811280 | ||||||
| chr3:196811281 | T | C | 6 | a0001c0001t0001g0045 a0001c0001t0004g0118 a0001c0001t0020g0133 others(3): Show |
6 | HG01943.hp1 HG02280.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.773+628T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811281 | |||||||
| chr3:196811284 | C | T | 40 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(37): Show |
40 | HG00408.hp1 HG00558.hp2 HG01517.hp2 others(37): Show |
intron_variant | MODIFIER | c.773+631C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811284 | |||||||
| chr3:196811286 | C | CCCTTCCT others(2214): Show |
1 | a0001c0002t0013g0143 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.773+639_773+640ins others(2221): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811286 | ||||||
| chr3:196811286 | C | T | 17 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 others(14): Show |
17 | HG00544.hp2 HG01517.hp2 HG01981.hp2 others(14): Show |
intron_variant | MODIFIER | c.773+633C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811286 | |||||||
| chr3:196811289 | T | C | 1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.773+636T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811289 | |||||||
| chr3:196811290 | T | C | 21 | a0001c0001t0001g0030 a0001c0001t0001g0141 a0001c0001t0002g0078 others(18): Show |
21 | HG01169.hp1 HG01169.hp2 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.773+637T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811290 | |||||||
| chr3:196811290 | T | TCCTTCCC others(702): Show |
1 | a0001c0001t0011g0139 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.773+639_773+640ins others(709): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811290 | ||||||
| chr3:196811293 | C | CTCCCTCC others(1057): Show |
1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.773+652_773+653ins others(1064): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811293 | ||||||
| chr3:196811293 | C | CTCCCTTC others(39): Show |
5 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(2): Show |
5 | HG01255.hp1 HG02055.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.773+645_773+646ins others(46): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811293 | ||||||
| chr3:196811293 | C | CTTCCCTC others(200): Show |
1 | a0001c0001t0005g0048 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.773+641_773+642ins others(207): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811293 | ||||||
| chr3:196811293 | C | T | 85 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 others(82): Show |
85 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(82): Show |
intron_variant | MODIFIER | c.773+640C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811293 | |||||||
| chr3:196811297 | C | CT | 2 | a0001c0001t0002g0111 a0001c0001t0007g0164 |
2 | HG03942.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.773+645dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCCTC others(216): Show |
2 | a0001c0001t0020g0133 a0001c0001t0020g0134 |
2 | HG02280.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.773+648_773+649ins others(223): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCCTC others(1208): Show |
1 | a0001c0001t0010g0140 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.773+648_773+649ins others(1215): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCCTC others(163): Show |
2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | NA18945.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.773+648_773+649ins others(170): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCCTC others(768): Show |
1 | a0001c0001t0002g0088 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.773+648_773+649ins others(775): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCCTC others(60): Show |
1 | a0001c0001t0002g0095 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.773+648_773+649ins others(67): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCTTC others(1064): Show |
1 | a0001c0001t0009g0119 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.773+652_773+653ins others(1071): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCTTC others(55): Show |
2 | a0001c0001t0013g0127 a0001c0001t0028g0174 |
2 | HG02738.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.773+652_773+653ins others(62): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTCCCTTC others(477): Show |
1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.773+652_773+653ins others(484): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTC others(100): Show |
2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.773+645_773+646ins others(107): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTC others(73): Show |
1 | a0001c0001t0004g0029 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(80): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTC others(60): Show |
1 | a0001c0001t0011g0145 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(67): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTC others(1042): Show |
1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(1049): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTC others(1758): Show |
1 | a0001c0001t0018g0083 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(1765): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTC others(1566): Show |
1 | a0001c0001t0002g0094 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(1573): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCCTT others(944): Show |
1 | a0001c0001t0014g0177 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(951): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(327): Show |
1 | a0001c0001t0042g0001 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(334): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(618): Show |
1 | a0001c0001t0004g0123 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(625): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(605): Show |
1 | a0001c0001t0004g0120 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(612): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(797): Show |
1 | a0001c0001t0014g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(804): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(806): Show |
1 | a0001c0001t0014g0176 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(813): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(654): Show |
1 | a0001c0002t0030g0131 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(661): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(579): Show |
1 | a0001c0001t0004g0124 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(586): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(843): Show |
1 | a0001c0001t0009g0126 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(850): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(109): Show |
1 | a0001c0001t0002g0106 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.773+645_773+646ins others(116): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | CTTCCTTC others(5344): Show |
1 | a0001c0001t0002g0070 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.773+645_773+646ins others(5351): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811297 | ||||||
| chr3:196811297 | C | T | 15 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 others(12): Show |
15 | HG00544.hp2 HG01517.hp2 HG01981.hp2 others(12): Show |
intron_variant | MODIFIER | c.773+644C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811297 | |||||||
| chr3:196811299 | C | T | 13 | a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 others(10): Show |
13 | HG00408.hp1 HG00558.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.773+646C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811299 | |||||||
| chr3:196811302 | T | C | 2 | a0001c0001t0004g0118 a0001c0002t0032g0135 |
2 | HG01943.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.773+649T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811302 | |||||||
| chr3:196811306 | T | C | 59 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(56): Show |
59 | HG00642.hp1 HG01074.hp1 HG01496.hp2 others(56): Show |
intron_variant | MODIFIER | c.773+653T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811306 | |||||||
| chr3:196811306 | T | TTCCCTCC others(786): Show |
1 | a0001c0001t0002g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.773+658_773+659ins others(793): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(2996): Show |
1 | a0001c0001t0002g0089 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.773+658_773+659ins others(3003): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(2198): Show |
1 | a0001c0001t0001g0040 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(2205): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(2090): Show |
1 | a0001c0001t0002g0086 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.773+658_773+659ins others(2097): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(2985): Show |
1 | a0001c0001t0007g0020 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(2992): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(2993): Show |
1 | a0001c0001t0024g0007 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.773+658_773+659ins others(3000): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(1749): Show |
1 | a0001c0001t0001g0152 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(1756): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(1586): Show |
1 | a0001c0001t0009g0027 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(1593): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(1676): Show |
1 | a0001c0001t0001g0024 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(1683): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(273): Show |
2 | a0001c0001t0001g0008 a0001c0001t0001g0028 |
2 | HG00558.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.773+658_773+659ins others(280): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(376): Show |
1 | a0001c0001t0003g0031 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(383): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(2060): Show |
1 | a0001c0001t0001g0030 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.773+658_773+659ins others(2067): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTCC others(314): Show |
1 | a0001c0001t0003g0010 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.773+658_773+659ins others(321): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTTC others(691): Show |
1 | a0001c0001t0002g0079 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.773+661_773+662ins others(698): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTTC others(319): Show |
1 | a0001c0001t0001g0023 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.773+661_773+662ins others(326): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTTC others(698): Show |
1 | a0001c0001t0004g0036 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.773+661_773+662ins others(705): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811306 | T | TTCCCTTC others(2153): Show |
1 | a0001c0001t0026g0098 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.773+661_773+662ins others(2160): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811306 | ||||||
| chr3:196811308 | C | CCCTTCCC others(265): Show |
1 | a0001c0001t0001g0039 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.773+661_773+662ins others(272): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811308 | ||||||
| chr3:196811308 | C | T | 1 | a0001c0001t0015g0170 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.773+655C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811308 | |||||||
| chr3:196811310 | CT | C | 2 | a0001c0001t0055g0146 a0001c0002t0013g0142 |
2 | HG02615.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.773+659delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811310 | ||||||
| chr3:196811312 | T | C | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.773+659T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811312 | |||||||
| chr3:196811315 | T | C | 11 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0002g0081 others(8): Show |
11 | HG00408.hp2 HG01346.hp2 HG01517.hp1 others(8): Show |
intron_variant | MODIFIER | c.773+662T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811315 | |||||||
| chr3:196811315 | T | TTCC | 7 | a0001c0001t0012g0128 a0001c0001t0023g0172 a0001c0001t0025g0121 others(4): Show |
7 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(4): Show |
intron_variant | MODIFIER | c.773+663_773+664ins others(3): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811315 | ||||||
| chr3:196811315 | T | TTCCC | 2 | a0001c0001t0007g0165 a0001c0001t0023g0125 |
2 | HG01071.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.773+663_773+664ins others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811315 | ||||||
| chr3:196811315 | T | TTCCCTCC others(652): Show |
1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.773+663_773+664ins others(659): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811315 | ||||||
| chr3:196811315 | T | TTCCTTCC others(1): Show |
2 | a0001c0001t0001g0163 a0001c0001t0007g0164 |
2 | HG00544.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.773+663_773+664ins others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811315 | ||||||
| chr3:196811317 | T | C | 103 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(100): Show |
103 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(100): Show |
intron_variant | MODIFIER | c.773+664T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811317 | |||||||
| chr3:196811320 | T | C | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.773+667T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811320 | |||||||
| chr3:196811321 | T | C | 82 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(79): Show |
82 | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(79): Show |
intron_variant | MODIFIER | c.773+668T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811321 | |||||||
| chr3:196811321 | T | TCCCTACC others(2333): Show |
1 | a0001c0001t0009g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.773+670_773+671ins others(2340): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCCTACC others(2048): Show |
1 | a0001c0001t0003g0056 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.773+670_773+671ins others(2055): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCCTCCC others(269): Show |
1 | a0001c0001t0026g0099 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.773+670_773+671ins others(276): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTCCC others(305): Show |
1 | a0001c0001t0022g0021 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.773+676_773+677ins others(312): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTCCT others(1944): Show |
1 | a0001c0001t0001g0032 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.773+674_773+675ins others(1951): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTCCT others(1934): Show |
1 | a0001c0001t0050g0147 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.773+674_773+675ins others(1941): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTCCT others(390): Show |
1 | a0001c0001t0001g0141 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.773+674_773+675ins others(397): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTCCT others(407): Show |
1 | a0001c0002t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.773+674_773+675ins others(414): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(464): Show |
1 | a0001c0004t0027g0058 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.773+672_773+673ins others(471): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(33): Show |
14 | a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0090 others(11): Show |
14 | HG01169.hp1 HG01255.hp2 HG02074.hp2 others(11): Show |
intron_variant | MODIFIER | c.773+672_773+673ins others(40): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(375): Show |
2 | a0001c0001t0040g0175 a0001c0001t0051g0160 |
2 | HG00738.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.773+672_773+673ins others(382): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(60): Show |
1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(67): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(82): Show |
1 | a0001c0001t0033g0043 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(89): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(82): Show |
1 | a0001c0001t0021g0159 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(89): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811321 | T | TCCTTTCC others(42): Show |
5 | a0001c0001t0053g0006 a0001c0002t0001g0003 a0001c0002t0005g0136 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.773+672_773+673ins others(49): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811321 | ||||||
| chr3:196811324 | T | C | 5 | a0001c0001t0001g0163 a0001c0001t0004g0118 a0001c0001t0007g0164 others(2): Show |
5 | HG00544.hp2 HG01943.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.773+671T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811324 | |||||||
| chr3:196811324 | T | TTTCC | 2 | a0001c0001t0007g0132 a0001c0001t0069g0072 |
2 | HG01169.hp2 HG02027.hp1 |
intron_variant | MODIFIER | c.773+672_773+673ins others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(19): Show |
1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(26): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(359): Show |
1 | a0001c0001t0061g0102 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(366): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(108): Show |
1 | a0001c0001t0001g0002 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(115): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(156): Show |
1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.773+672_773+673ins others(163): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(292): Show |
1 | a0001c0002t0057g0077 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.773+672_773+673ins others(299): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(46): Show |
11 | a0001c0001t0006g0062 a0001c0001t0062g0085 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.773+672_773+673ins others(53): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811324 | T | TTTCCTTC others(95): Show |
1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.773+672_773+673ins others(102): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811324 | ||||||
| chr3:196811325 | TC | T | 3 | a0001c0001t0001g0039 a0001c0001t0005g0048 a0001c0001t0065g0075 |
3 | HG01074.hp2 HG02273.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.773+675delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811325 | ||||||
| chr3:196811326 | C | CCCTTCCT others(2368): Show |
1 | a0001c0001t0060g0107 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.773+679_773+680ins others(2375): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811326 | ||||||
| chr3:196811326 | C | CCTT | 6 | a0001c0001t0023g0172 a0001c0001t0025g0121 a0001c0001t0043g0117 others(3): Show |
6 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(3): Show |
intron_variant | MODIFIER | c.773+674_773+675ins others(3): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811326 | ||||||
| chr3:196811326 | C | CCTTCCCT others(486): Show |
1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.773+674_773+675ins others(493): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811326 | ||||||
| chr3:196811326 | C | CCTTCCCT others(95): Show |
3 | a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050 |
3 | HG03041.hp1 HG03130.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.773+674_773+675ins others(102): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811326 | ||||||
| chr3:196811326 | C | CTCCTTCC others(485): Show |
1 | a0001c0002t0059g0113 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.773+673_773+674ins others(492): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811326 | |||||||
| chr3:196811326 | C | T | 21 | a0001c0001t0001g0002 a0001c0001t0006g0062 a0001c0001t0007g0132 others(18): Show |
21 | HG00544.hp1 HG01070.hp2 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.773+673C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811326 | |||||||
| chr3:196811328 | CT | C | 3 | a0001c0001t0022g0162 a0001c0001t0055g0146 a0001c0001t0064g0112 |
3 | HG01891.hp2 HG03540.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.773+677delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811328 | ||||||
| chr3:196811329 | T | C | 1 | a0001c0002t0013g0142 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.773+676T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811329 | |||||||
| chr3:196811333 | C | CTCCCTCC others(1761): Show |
1 | a0001c0001t0063g0109 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.773+685_773+686ins others(1768): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811333 | ||||||
| chr3:196811333 | C | CTCCCTTC others(3896): Show |
1 | a0001c0001t0067g0055 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.773+697_773+698ins others(3903): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811333 | ||||||
| chr3:196811333 | C | CTCCCTTC others(1224): Show |
1 | a0001c0002t0005g0047 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.773+697_773+698ins others(1231): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811333 | ||||||
| chr3:196811333 | C | CTCCCTTC others(2325): Show |
1 | a0001c0001t0016g0076 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.773+697_773+698ins others(2332): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811333 | ||||||
| chr3:196811333 | C | CTCCCTTC others(962): Show |
1 | a0001c0001t0002g0111 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.773+697_773+698ins others(969): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811333 | ||||||
| chr3:196811333 | C | CTCCCTTC others(1539): Show |
1 | a0001c0001t0001g0052 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.773+703_773+704ins others(1546): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811333 | ||||||
| chr3:196811333 | C | T | 32 | a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0149 others(29): Show |
32 | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.773+680C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811333 | |||||||
| chr3:196811335 | C | CCCTCCCC others(203): Show |
3 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0002g0092 |
3 | HG02165.hp2 HG04184.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.773+685_773+686ins others(210): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811335 | ||||||
| chr3:196811335 | C | CCCTCCCC others(148): Show |
1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.773+685_773+686ins others(155): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811335 | ||||||
| chr3:196811335 | C | CCCTCCCC others(590): Show |
1 | a0001c0001t0002g0081 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.773+685_773+686ins others(597): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811335 | ||||||
| chr3:196811335 | C | CCCTTCCC others(8): Show |
1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.773+690_773+691ins others(15): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811335 | ||||||
| chr3:196811335 | C | T | 112 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(109): Show |
112 | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(109): Show |
intron_variant | MODIFIER | c.773+682C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811335 | |||||||
| chr3:196811338 | T | TTCCCTCC others(3579): Show |
1 | a0001c0001t0016g0074 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.773+697_773+698ins others(3586): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811338 | ||||||
| chr3:196811339 | TC | T | 14 | a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0149 others(11): Show |
14 | HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.773+689delC | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811339 | ||||||
| chr3:196811340 | C | CCTTCCTT others(459): Show |
1 | a0001c0001t0015g0170 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.773+688_773+689ins others(466): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811340 | ||||||
| chr3:196811342 | C | T | 4 | a0001c0001t0025g0116 a0001c0001t0052g0171 a0001c0001t0056g0154 others(1): Show |
4 | HG01074.hp2 HG01515.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.773+689C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811342 | |||||||
| chr3:196811344 | C | CCCTCCCT others(756): Show |
1 | a0001c0001t0007g0165 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.773+694_773+695ins others(763): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | CCCTCCCT others(1345): Show |
1 | a0001c0002t0032g0135 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.773+694_773+695ins others(1352): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | CCCTTCCC others(2364): Show |
1 | a0001c0001t0016g0110 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.773+697_773+698ins others(2371): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | CCCTTCCC others(775): Show |
1 | a0001c0001t0023g0172 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.773+697_773+698ins others(782): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | CCCTTCCC others(698): Show |
3 | a0001c0001t0025g0121 a0001c0001t0043g0117 a0001c0001t0058g0097 |
3 | HG00099.hp2 HG00639.hp1 HG00639.hp2 |
intron_variant | MODIFIER | c.773+697_773+698ins others(705): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | CCCTTCCT others(1268): Show |
1 | a0001c0001t0023g0125 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.773+703_773+704ins others(1275): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | CCCTTCCT others(1581): Show |
1 | a0001c0001t0022g0162 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.773+703_773+704ins others(1588): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811344 | ||||||
| chr3:196811344 | C | T | 131 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(128): Show |
131 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(128): Show |
intron_variant | MODIFIER | c.773+691C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811344 | |||||||
| chr3:196811351 | T | C | 1 | a0001c0001t0025g0116 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.773+698T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811351 | |||||||
| chr3:196811357 | C | CCCTTCCC others(1395): Show |
1 | a0001c0001t0065g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.773+712_773+713ins others(1402): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCC others(1163): Show |
1 | a0001c0001t0052g0171 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.773+712_773+713ins others(1170): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCC others(425): Show |
1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.773+712_773+713ins others(432): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCC others(7): Show |
11 | a0001c0001t0006g0062 a0001c0001t0062g0085 a0001c0003t0006g0015 others(8): Show |
11 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.773+715_773+716ins others(14): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCC others(140): Show |
1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.773+715_773+716ins others(147): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCT others(781): Show |
1 | a0001c0001t0004g0118 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.773+710_773+711ins others(788): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCT others(6746): Show |
1 | a0001c0001t0012g0128 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.773+710_773+711ins others(6753): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCT others(1081): Show |
1 | a0001c0001t0064g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.773+710_773+711ins others(1088): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCT others(3039): Show |
1 | a0001c0001t0015g0169 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.773+710_773+711ins others(3046): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | CCCTTCCT others(350): Show |
1 | a0001c0001t0055g0146 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.773+710_773+711ins others(357): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811357 | ||||||
| chr3:196811357 | C | T | 139 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(136): Show |
139 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.773+704C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811357 | |||||||
| chr3:196811361 | T | TCCCTCCC others(965): Show |
1 | a0001c0001t0025g0116 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.773+712_773+713ins others(972): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811361 | ||||||
| chr3:196811362 | C | CCTTCCCT others(236): Show |
1 | a0001c0002t0013g0142 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.773+710_773+711ins others(243): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811362 | ||||||
| chr3:196811366 | T | C | 1 | a0001c0001t0025g0116 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.773+713T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811366 | |||||||
| chr3:196811374 | T | C | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.773+721T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811374 | |||||||
| chr3:196811385 | C | CTTCCTTC others(15): Show |
1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.773+732_773+733ins others(22): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811385 | |||||||
| chr3:196811386 | C | CT | 26 | a0001c0001t0001g0052 a0001c0001t0002g0082 a0001c0001t0002g0111 others(23): Show |
26 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(23): Show |
intron_variant | MODIFIER | c.773+754dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811386 | ||||||
| chr3:196811386 | CT | C | 41 | a0001c0001t0001g0012 a0001c0001t0001g0141 a0001c0001t0002g0086 others(38): Show |
41 | HG01071.hp1 HG01074.hp1 HG01169.hp1 others(38): Show |
intron_variant | MODIFIER | c.773+754delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811386 | ||||||
| chr3:196811387 | T | TTCCTTCC others(22): Show |
1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.773+735_773+736ins others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | 196811387 | ||||||
| chr3:196811411 | G | A | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.773+758G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811411 | |||||||
| chr3:196811438 | G | A | 1 | a0001c0001t0021g0042 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.774-781G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811438 | |||||||
| chr3:196811733 | G | A | 16 | a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0001t0020g0133 others(13): Show |
16 | HG00738.hp2 HG01975.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.774-486G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811733 | |||||||
| chr3:196811777 | C | T | 116 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(113): Show |
116 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.774-442C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811777 | |||||||
| chr3:196811837 | T | C | 5 | a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(2): Show |
5 | HG01255.hp1 HG02055.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.774-382T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811837 | |||||||
| chr3:196811846 | A | C | 35 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
intron_variant | MODIFIER | c.774-373A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811846 | |||||||
| chr3:196811883 | G | A | 3 | a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0007t0044g0054 |
3 | HG02895.hp1 HG02897.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.774-336G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811883 | |||||||
| chr3:196811906 | A | G | 2 | a0001c0001t0001g0115 a0001c0001t0001g0156 |
2 | HG02071.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.774-313A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811906 | |||||||
| chr3:196811912 | T | A | 1 | a0001c0001t0069g0072 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.774-307T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811912 | |||||||
| chr3:196811919 | T | C | 1 | a0001c0003t0008g0065 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.774-300T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196811919 | |||||||
| chr3:196812021 | A | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.774-198A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196812021 | |||||||
| chr3:196812060 | A | C | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.774-159A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196812060 | |||||||
| chr3:196812134 | A | G | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.774-85A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | 196812134 | |||||||
| chr3:196812369 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.822+102G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812369 | |||||||
| chr3:196812376 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.822+109G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812376 | |||||||
| chr3:196812392 | G | A | 1 | a0001c0001t0050g0147 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.822+125G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812392 | |||||||
| chr3:196812427 | A | G | 1 | a0001c0001t0001g0016 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.822+160A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812427 | |||||||
| chr3:196812443 | A | G | 7 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(4): Show |
7 | HG00642.hp1 HG02630.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.822+176A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812443 | |||||||
| chr3:196812495 | A | G | 2 | a0001c0001t0053g0006 a0001c0001t0055g0146 |
2 | HG02895.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.822+228A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812495 | |||||||
| chr3:196812531 | G | T | 1 | a0001c0001t0058g0097 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.823-208G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812531 | |||||||
| chr3:196812532 | T | A | 1 | a0001c0001t0058g0097 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.823-207T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812532 | |||||||
| chr3:196812578 | C | G | 36 | a0001c0001t0001g0141 a0001c0001t0004g0029 a0001c0001t0004g0036 others(33): Show |
36 | HG00738.hp2 HG01074.hp1 HG01346.hp1 others(33): Show |
intron_variant | MODIFIER | c.823-161C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812578 | |||||||
| chr3:196812636 | G | A | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.823-103G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812636 | |||||||
| chr3:196812641 | A | T | 1 | a0001c0001t0008g0068 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.823-98A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 9/14 | chr3 | 196812641 | |||||||
| chr3:196812980 | G | A | 1 | a0001c0001t0006g0062 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.935+129G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196812980 | |||||||
| chr3:196813102 | G | A | 2 | a0001c0001t0033g0043 a0001c0001t0036g0041 |
2 | HG02055.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.935+251G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813102 | |||||||
| chr3:196813372 | T | C | 113 | a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0138 others(110): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.935+521T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813372 | |||||||
| chr3:196813413 | G | A | 1 | a0001c0001t0009g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.935+562G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813413 | |||||||
| chr3:196813427 | C | A | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.935+576C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813427 | |||||||
| chr3:196813518 | C | T | 34 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(31): Show |
34 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(31): Show |
intron_variant | MODIFIER | c.935+667C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813518 | |||||||
| chr3:196813748 | G | A | 35 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0149 others(32): Show |
35 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.936-703G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813748 | |||||||
| chr3:196813766 | G | A | 36 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0149 others(33): Show |
36 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.936-685G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813766 | |||||||
| chr3:196813819 | G | A | 2 | a0001c0001t0021g0042 a0001c0001t0063g0109 |
2 | HG02451.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.936-632G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813819 | |||||||
| chr3:196813948 | C | T | 26 | a0001c0001t0001g0141 a0001c0001t0004g0029 a0001c0001t0004g0036 others(23): Show |
26 | HG01074.hp1 HG01255.hp1 HG01346.hp1 others(23): Show |
intron_variant | MODIFIER | c.936-503C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813948 | |||||||
| chr3:196813970 | A | G | 36 | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0149 others(33): Show |
36 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.936-481A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196813970 | |||||||
| chr3:196814103 | A | G | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.936-348A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196814103 | |||||||
| chr3:196814135 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0005g0048 a0001c0001t0005g0049 others(2): Show |
5 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.936-316C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196814135 | |||||||
| chr3:196814381 | C | T | 39 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0115 others(36): Show |
39 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(36): Show |
intron_variant | MODIFIER | c.936-70C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 10/14 | chr3 | 196814381 | |||||||
| chr3:196814709 | G | A | 157 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(154): Show |
157 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(154): Show |
intron_variant | MODIFIER | c.1053+141G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814709 | |||||||
| chr3:196814752 | G | A | 2 | a0001c0001t0011g0137 a0001c0001t0011g0139 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1053+184G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814752 | |||||||
| chr3:196814812 | C | T | 1 | a0001c0002t0032g0135 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1053+244C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814812 | |||||||
| chr3:196814815 | G | T | 1 | a0001c0002t0032g0135 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1053+247G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814815 | |||||||
| chr3:196814912 | G | A | 30 | a0001c0001t0001g0115 a0001c0001t0001g0149 a0001c0001t0001g0150 others(27): Show |
30 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(27): Show |
intron_variant | MODIFIER | c.1053+344G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814912 | |||||||
| chr3:196814950 | C | T | 10 | a0001c0001t0001g0002 a0001c0001t0001g0138 a0001c0001t0002g0114 others(7): Show |
10 | HG00642.hp1 HG01169.hp1 HG01517.hp2 others(7): Show |
intron_variant | MODIFIER | c.1053+382C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814950 | |||||||
| chr3:196814962 | A | G | 1 | a0001c0001t0001g0032 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1053+394A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814962 | |||||||
| chr3:196814995 | C | T | 6 | a0001c0001t0001g0052 a0001c0001t0002g0111 a0001c0001t0016g0074 others(3): Show |
6 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1053+427C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196814995 | |||||||
| chr3:196815005 | C | A | 6 | a0001c0001t0021g0042 a0001c0001t0034g0009 a0001c0001t0036g0041 others(3): Show |
6 | HG02451.hp1 HG02630.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1053+437C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815005 | |||||||
| chr3:196815006 | T | C | 2 | a0001c0001t0011g0137 a0001c0001t0011g0139 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1053+438T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815006 | |||||||
| chr3:196815007 | G | A | 2 | a0001c0001t0011g0137 a0001c0001t0011g0139 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1053+439G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815007 | |||||||
| chr3:196815035 | C | T | 2 | a0001c0001t0039g0130 a0001c0001t0040g0175 |
2 | HG00738.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1053+467C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815035 | |||||||
| chr3:196815049 | A | G | 1 | a0001c0001t0011g0145 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1053+481A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815049 | |||||||
| chr3:196815136 | C | T | 3 | a0001c0001t0007g0132 a0001c0001t0007g0164 a0001c0001t0007g0165 |
3 | HG02027.hp1 HG02165.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.1053+568C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815136 | |||||||
| chr3:196815137 | A | G | 3 | a0001c0001t0007g0132 a0001c0001t0007g0164 a0001c0001t0007g0165 |
3 | HG02027.hp1 HG02165.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.1053+569A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815137 | |||||||
| chr3:196815158 | C | G | 5 | a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0007g0132 others(2): Show |
5 | HG02027.hp1 HG02165.hp1 NA18953.hp2 others(2): Show |
intron_variant | MODIFIER | c.1053+590C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815158 | |||||||
| chr3:196815159 | A | G | 6 | a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0003g0158 others(3): Show |
6 | HG02027.hp1 HG02165.hp1 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.1053+591A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815159 | |||||||
| chr3:196815212 | T | G | 30 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0052 others(27): Show |
30 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(27): Show |
intron_variant | MODIFIER | c.1053+644T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815212 | |||||||
| chr3:196815246 | T | G | 28 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(25): Show |
28 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.1053+678T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815246 | |||||||
| chr3:196815353 | A | G | 13 | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0040 others(10): Show |
13 | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(10): Show |
intron_variant | MODIFIER | c.1053+785A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815353 | |||||||
| chr3:196815363 | A | C | 8 | a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0001t0011g0145 others(5): Show |
8 | HG01891.hp2 HG02280.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.1053+795A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815363 | |||||||
| chr3:196815364 | C | T | 33 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0002g0114 others(30): Show |
33 | HG00642.hp1 HG01169.hp1 HG01517.hp2 others(30): Show |
intron_variant | MODIFIER | c.1053+796C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815364 | |||||||
| chr3:196815378 | G | A | 1 | a0001c0001t0018g0108 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1053+810G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815378 | |||||||
| chr3:196815389 | G | C | 18 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0002g0111 others(15): Show |
18 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(15): Show |
intron_variant | MODIFIER | c.1053+821G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815389 | |||||||
| chr3:196815406 | C | T | 2 | a0001c0001t0002g0086 a0001c0001t0002g0089 |
2 | HG01934.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1053+838C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815406 | |||||||
| chr3:196815424 | A | G | 10 | a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0005g0059 others(7): Show |
10 | HG01255.hp1 HG02055.hp1 HG02074.hp2 others(7): Show |
intron_variant | MODIFIER | c.1053+856A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815424 | |||||||
| chr3:196815429 | T | C | 3 | a0001c0001t0033g0043 a0001c0001t0053g0006 a0001c0001t0055g0146 |
3 | HG02055.hp1 HG02895.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1053+861T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815429 | |||||||
| chr3:196815448 | C | T | 1 | a0001c0001t0058g0097 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1053+880C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815448 | |||||||
| chr3:196815449 | G | A | 1 | a0001c0001t0007g0020 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1053+881G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815449 | |||||||
| chr3:196815489 | CA | C | 10 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(7): Show |
10 | HG01515.hp1 HG01891.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1053+936delA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196815489 | ||||||
| chr3:196815517 | A | G | 2 | a0001c0001t0014g0178 a0001c0001t0041g0046 |
2 | HG02615.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1053+949A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815517 | |||||||
| chr3:196815536 | A | C | 1 | a0001c0001t0009g0026 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1053+968A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815536 | |||||||
| chr3:196815605 | G | A | 1 | a0001c0001t0050g0147 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1053+1037G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815605 | |||||||
| chr3:196815643 | T | C | 1 | a0001c0001t0040g0175 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.1053+1075T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815643 | |||||||
| chr3:196815656 | A | G | 3 | a0001c0001t0026g0098 a0001c0001t0026g0099 a0001c0001t0051g0160 |
3 | HG01515.hp2 HG01517.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.1053+1088A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815656 | |||||||
| chr3:196815659 | C | T | 1 | a0001c0001t0022g0021 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1053+1091C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815659 | |||||||
| chr3:196815688 | G | A | 4 | a0001c0001t0010g0140 a0001c0001t0038g0060 a0001c0002t0013g0142 others(1): Show |
4 | HG02615.hp1 HG02922.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1053+1120G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815688 | |||||||
| chr3:196815719 | G | A | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1053+1151G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815719 | |||||||
| chr3:196815725 | C | T | 79 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(76): Show |
79 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(76): Show |
intron_variant | MODIFIER | c.1053+1157C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815725 | |||||||
| chr3:196815735 | C | G | 3 | a0001c0001t0001g0002 a0001c0001t0034g0009 a0001c0001t0042g0001 |
3 | HG00642.hp1 HG03669.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1053+1167C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815735 | |||||||
| chr3:196815797 | A | AT | 2 | a0001c0001t0003g0148 a0001c0001t0003g0151 |
2 | HG00408.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.1053+1229_1053+123 others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815797 | |||||||
| chr3:196815806 | A | G | 14 | a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 others(11): Show |
14 | HG00738.hp2 HG01074.hp1 HG01517.hp2 others(11): Show |
intron_variant | MODIFIER | c.1053+1238A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815806 | |||||||
| chr3:196815819 | A | G | 1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1053+1251A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815819 | |||||||
| chr3:196815822 | G | A | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1053+1254G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815822 | |||||||
| chr3:196815856 | A | G | 3 | a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0007t0044g0054 |
3 | HG02895.hp1 HG02897.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1053+1288A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815856 | |||||||
| chr3:196815873 | A | G | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1053+1305A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196815873 | |||||||
| chr3:196816120 | T | C | 5 | a0001c0001t0001g0045 a0001c0001t0014g0178 a0001c0001t0021g0042 others(2): Show |
5 | HG02615.hp2 HG03209.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1053+1552T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816120 | |||||||
| chr3:196816135 | CT | C | 6 | a0001c0001t0053g0006 a0001c0001t0055g0146 a0001c0001t0061g0102 others(3): Show |
6 | HG01975.hp1 HG02647.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1053+1570delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196816135 | ||||||
| chr3:196816204 | A | G | 3 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 |
3 | NA18945.hp2 NA18951.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.1053+1636A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816204 | |||||||
| chr3:196816270 | T | A | 55 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(52): Show |
55 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.1053+1702T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816270 | |||||||
| chr3:196816775 | G | C | 58 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(55): Show |
58 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(55): Show |
intron_variant | MODIFIER | c.1054-1282G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816775 | |||||||
| chr3:196816853 | C | T | 6 | a0001c0001t0006g0062 a0001c0003t0006g0015 a0001c0003t0006g0066 others(3): Show |
6 | HG01070.hp2 HG01496.hp1 HG01934.hp1 others(3): Show |
intron_variant | MODIFIER | c.1054-1204C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816853 | |||||||
| chr3:196816923 | A | T | 1 | a0001c0001t0058g0097 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1054-1134A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816923 | |||||||
| chr3:196816999 | C | T | 2 | a0001c0001t0021g0042 a0001c0001t0041g0046 |
2 | HG03225.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1054-1058C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196816999 | |||||||
| chr3:196817034 | G | A | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.1054-1023G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817034 | |||||||
| chr3:196817155 | AATTTTT | A | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0038g0060 |
3 | HG02630.hp2 HG02976.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1054-901_1054-896d others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817155 | |||||||
| chr3:196817156 | A | AT | 27 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0022 others(24): Show |
27 | HG00280.hp1 HG00544.hp1 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.1054-875dupT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196817156 | ||||||
| chr3:196817156 | A | ATT | 12 | a0001c0001t0001g0016 a0001c0001t0001g0052 a0001c0001t0002g0111 others(9): Show |
12 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.1054-876_1054-875d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196817156 | ||||||
| chr3:196817156 | AT | A | 48 | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0030 others(45): Show |
48 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.1054-875delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196817156 | ||||||
| chr3:196817156 | ATT | A | 14 | a0001c0001t0001g0163 a0001c0001t0007g0164 a0001c0001t0020g0133 others(11): Show |
14 | HG00099.hp2 HG00544.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.1054-876_1054-875d others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196817156 | ||||||
| chr3:196817204 | G | A | 10 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0002g0111 others(7): Show |
10 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(7): Show |
intron_variant | MODIFIER | c.1054-853G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817204 | |||||||
| chr3:196817221 | G | C | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1054-836G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817221 | |||||||
| chr3:196817246 | T | C | 100 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(97): Show |
100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.1054-811T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817246 | |||||||
| chr3:196817305 | C | T | 1 | a0001c0001t0014g0178 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1054-752C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817305 | |||||||
| chr3:196817350 | C | T | 66 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(63): Show |
66 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.1054-707C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817350 | |||||||
| chr3:196817361 | G | T | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1054-696G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817361 | |||||||
| chr3:196817453 | C | T | 56 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(53): Show |
56 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(53): Show |
intron_variant | MODIFIER | c.1054-604C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817453 | |||||||
| chr3:196817526 | T | C | 11 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0002g0111 others(8): Show |
11 | HG00099.hp1 HG00642.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1054-531T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817526 | |||||||
| chr3:196817538 | A | ACACAGGG others(3): Show |
6 | a0001c0001t0001g0045 a0001c0001t0014g0178 a0001c0001t0021g0042 others(3): Show |
6 | HG02615.hp2 HG02818.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.1054-515_1054-506d others(12): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | 196817538 | ||||||
| chr3:196817582 | A | T | 23 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0002g0111 others(20): Show |
23 | HG00099.hp1 HG00544.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.1054-475A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817582 | |||||||
| chr3:196817702 | T | C | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-355T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817702 | |||||||
| chr3:196817704 | G | A | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-353G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817704 | |||||||
| chr3:196817705 | G | T | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-352G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817705 | |||||||
| chr3:196817706 | C | A | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-351C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817706 | |||||||
| chr3:196817709 | G | T | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-348G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817709 | |||||||
| chr3:196817710 | G | A | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-347G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817710 | |||||||
| chr3:196817711 | C | G | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-346C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817711 | |||||||
| chr3:196817714 | G | A | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-343G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817714 | |||||||
| chr3:196817716 | C | G | 1 | a0001c0001t0002g0093 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1054-341C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 11/14 | chr3 | 196817716 | |||||||
| chr3:196818355 | A | G | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.1153+199A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818355 | |||||||
| chr3:196818381 | T | G | 10 | a0001c0001t0001g0045 a0001c0001t0011g0137 a0001c0001t0011g0139 others(7): Show |
10 | HG02280.hp2 HG02738.hp1 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.1153+225T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818381 | |||||||
| chr3:196818532 | A | C | 1 | a0001c0001t0001g0166 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1153+376A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818532 | |||||||
| chr3:196818645 | C | T | 113 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(110): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.1153+489C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818645 | |||||||
| chr3:196818666 | A | G | 2 | a0001c0001t0002g0092 a0001c0001t0002g0094 |
2 | NA18970.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.1153+510A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818666 | |||||||
| chr3:196818670 | T | C | 1 | a0001c0001t0061g0102 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1153+514T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818670 | |||||||
| chr3:196818753 | G | A | 78 | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0115 others(75): Show |
78 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.1153+597G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818753 | |||||||
| chr3:196818787 | G | A | 10 | a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 others(7): Show |
10 | HG01074.hp1 HG01496.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1153+631G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196818787 | |||||||
| chr3:196819028 | C | T | 11 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0005g0047 others(8): Show |
11 | HG02451.hp2 HG02615.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.1153+872C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819028 | |||||||
| chr3:196819040 | A | G | 9 | a0001c0001t0001g0045 a0001c0001t0011g0137 a0001c0001t0011g0139 others(6): Show |
9 | HG02280.hp2 HG02738.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.1153+884A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819040 | |||||||
| chr3:196819043 | G | C | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1153+887G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819043 | |||||||
| chr3:196819215 | G | A | 1 | a0001c0002t0005g0136 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1153+1059G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819215 | |||||||
| chr3:196819314 | C | T | 5 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 others(2): Show |
5 | HG02055.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1154-1057C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819314 | |||||||
| chr3:196819327 | A | C | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1154-1044A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819327 | |||||||
| chr3:196819443 | A | G | 11 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0002g0111 others(8): Show |
11 | HG00099.hp1 HG00642.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1154-928A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819443 | |||||||
| chr3:196819462 | T | A | 1 | a0001c0001t0001g0167 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1154-909T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819462 | |||||||
| chr3:196819503 | G | A | 78 | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0115 others(75): Show |
78 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.1154-868G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819503 | |||||||
| chr3:196819579 | A | G | 1 | a0001c0001t0001g0023 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1154-792A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819579 | |||||||
| chr3:196819658 | T | G | 86 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(83): Show |
86 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(83): Show |
intron_variant | MODIFIER | c.1154-713T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819658 | |||||||
| chr3:196819664 | T | C | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.1154-707T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819664 | |||||||
| chr3:196819871 | C | T | 5 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0010g0105 others(2): Show |
5 | HG02451.hp2 HG02818.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.1154-500C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819871 | |||||||
| chr3:196819905 | A | G | 69 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(66): Show |
69 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.1154-466A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819905 | |||||||
| chr3:196819986 | T | A | 1 | a0001c0001t0001g0040 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1154-385T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | chr3 | 196819986 | |||||||
| chr3:196820350 | C | CTGTTT | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
splice_acceptor_variant&intron_variant | HIGH | c.1154-7_1154-3dupTT others(3): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | 196820350 | ||||||
| chr3:196820575 | G | C | 78 | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0115 others(75): Show |
78 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(75): Show |
splice_region_variant&intron_variant | LOW | c.1350+8G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196820575 | |||||||
| chr3:196820667 | G | A | 106 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(103): Show |
106 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(103): Show |
intron_variant | MODIFIER | c.1350+100G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196820667 | |||||||
| chr3:196820761 | G | A | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1350+194G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196820761 | |||||||
| chr3:196820901 | G | A | 69 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(66): Show |
69 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.1350+334G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196820901 | |||||||
| chr3:196820923 | G | A | 69 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(66): Show |
69 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.1350+356G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196820923 | |||||||
| chr3:196821042 | G | A | 1 | a0001c0001t0001g0115 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1350+475G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821042 | |||||||
| chr3:196821055 | G | A | 1 | a0001c0004t0019g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1350+488G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821055 | |||||||
| chr3:196821099 | C | A | 3 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 |
3 | HG02280.hp2 HG02738.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1350+532C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821099 | |||||||
| chr3:196821152 | T | A | 1 | a0001c0001t0041g0046 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1350+585T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821152 | |||||||
| chr3:196821267 | C | T | 1 | a0001c0001t0015g0170 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1350+700C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821267 | |||||||
| chr3:196821350 | A | C | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1350+783A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821350 | |||||||
| chr3:196821358 | A | T | 2 | a0001c0001t0061g0102 a0001c0007t0044g0054 |
2 | HG01975.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1350+791A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821358 | |||||||
| chr3:196821370 | C | T | 4 | a0001c0001t0001g0045 a0001c0001t0021g0042 a0001c0001t0029g0044 others(1): Show |
4 | HG02818.hp1 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1350+803C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821370 | |||||||
| chr3:196821532 | G | A | 107 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(104): Show |
107 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.1350+965G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821532 | |||||||
| chr3:196821556 | G | A | 1 | a0001c0001t0002g0078 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1350+989G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821556 | |||||||
| chr3:196821669 | C | T | 9 | a0001c0001t0001g0045 a0001c0001t0011g0137 a0001c0001t0011g0139 others(6): Show |
9 | HG02280.hp2 HG02738.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.1350+1102C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821669 | |||||||
| chr3:196821761 | T | A | 2 | a0001c0001t0001g0002 a0001c0001t0042g0001 |
2 | HG00642.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.1350+1194T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821761 | |||||||
| chr3:196821867 | A | G | 9 | a0001c0001t0001g0045 a0001c0001t0011g0137 a0001c0001t0011g0139 others(6): Show |
9 | HG02280.hp2 HG02738.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.1350+1300A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821867 | |||||||
| chr3:196821887 | A | T | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1350+1320A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821887 | |||||||
| chr3:196821958 | G | A | 12 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0005g0047 others(9): Show |
12 | HG02451.hp2 HG02615.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.1350+1391G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821958 | |||||||
| chr3:196821999 | T | C | 12 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0005g0047 others(9): Show |
12 | HG02451.hp2 HG02615.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.1350+1432T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196821999 | |||||||
| chr3:196822024 | A | G | 1 | a0001c0001t0001g0141 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1350+1457A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822024 | |||||||
| chr3:196822028 | A | ATGGCAGC others(17): Show |
1 | a0001c0001t0025g0121 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1350+1463_1350+148 others(28): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196822028 | ||||||
| chr3:196822061 | T | A | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1350+1494T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822061 | |||||||
| chr3:196822218 | G | A | 99 | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0052 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1350+1651G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822218 | |||||||
| chr3:196822457 | G | A | 2 | a0001c0001t0053g0006 a0001c0001t0055g0146 |
2 | HG02895.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1350+1890G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822457 | |||||||
| chr3:196822510 | G | T | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1350+1943G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822510 | |||||||
| chr3:196822642 | G | C | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1350+2075G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822642 | |||||||
| chr3:196822725 | A | G | 62 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(59): Show |
62 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(59): Show |
intron_variant | MODIFIER | c.1350+2158A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822725 | |||||||
| chr3:196822871 | T | G | 108 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(105): Show |
108 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.1350+2304T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822871 | |||||||
| chr3:196822895 | CCTCA | C | 3 | a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0021g0159 |
3 | HG02280.hp2 HG02738.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1350+2329_1350+233 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822895 | |||||||
| chr3:196822910 | C | T | 4 | a0001c0001t0001g0045 a0001c0001t0021g0042 a0001c0001t0029g0044 others(1): Show |
4 | HG02818.hp1 HG03209.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1350+2343C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822910 | |||||||
| chr3:196822939 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1350+2372G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822939 | |||||||
| chr3:196822946 | G | A | 2 | a0001c0002t0001g0003 a0001c0002t0001g0004 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1350+2379G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196822946 | |||||||
| chr3:196823045 | G | A | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1350+2478G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823045 | |||||||
| chr3:196823130 | A | G | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1350+2563A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823130 | |||||||
| chr3:196823299 | C | T | 1 | a0001c0001t0018g0108 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1350+2732C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823299 | |||||||
| chr3:196823362 | G | A | 4 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(1): Show |
4 | HG03041.hp1 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1350+2795G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823362 | |||||||
| chr3:196823396 | C | T | 1 | a0001c0001t0012g0034 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1350+2829C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823396 | |||||||
| chr3:196823543 | G | GCAAA | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0058g0097 others(9): Show |
12 | HG00544.hp1 HG00639.hp2 HG01070.hp2 others(9): Show |
intron_variant | MODIFIER | c.1350+3001_1350+300 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196823543 | ||||||
| chr3:196823543 | G | GCAAACAA others(5): Show |
1 | a0001c0003t0006g0067 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1350+2993_1350+300 others(16): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196823543 | ||||||
| chr3:196823568 | C | A | 14 | a0001c0001t0001g0052 a0001c0001t0002g0111 a0001c0001t0016g0074 others(11): Show |
14 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.1350+3001C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823568 | |||||||
| chr3:196823572 | A | C | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1350+3005A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823572 | |||||||
| chr3:196823731 | G | A | 1 | a0001c0001t0039g0130 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1350+3164G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823731 | |||||||
| chr3:196823766 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0029g0044 |
2 | HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1350+3199G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823766 | |||||||
| chr3:196823790 | C | A | 9 | a0001c0001t0001g0052 a0001c0001t0002g0111 a0001c0001t0016g0074 others(6): Show |
9 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.1350+3223C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823790 | |||||||
| chr3:196823811 | C | CA | 19 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0045 others(16): Show |
19 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(16): Show |
intron_variant | MODIFIER | c.1350+3259dupA | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196823811 | ||||||
| chr3:196823953 | G | A | 1 | a0001c0001t0020g0134 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1351-3243G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196823953 | |||||||
| chr3:196824128 | C | T | 8 | a0001c0001t0001g0052 a0001c0001t0002g0111 a0001c0001t0016g0074 others(5): Show |
8 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.1351-3068C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824128 | |||||||
| chr3:196824129 | G | T | 6 | a0001c0002t0001g0003 a0001c0002t0005g0047 a0001c0002t0013g0142 others(3): Show |
6 | HG02615.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1351-3067G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824129 | |||||||
| chr3:196824290 | A | G | 4 | a0001c0001t0001g0163 a0001c0001t0007g0132 a0001c0001t0007g0164 others(1): Show |
4 | HG00544.hp2 HG02027.hp1 HG02165.hp1 others(1): Show |
intron_variant | MODIFIER | c.1351-2906A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824290 | |||||||
| chr3:196824602 | G | A | 8 | a0001c0001t0001g0052 a0001c0001t0002g0111 a0001c0001t0016g0074 others(5): Show |
8 | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.1351-2594G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824602 | |||||||
| chr3:196824635 | T | C | 1 | a0001c0002t0032g0135 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1351-2561T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824635 | |||||||
| chr3:196824706 | C | T | 4 | a0001c0001t0037g0053 a0001c0004t0019g0057 a0001c0004t0019g0061 others(1): Show |
4 | HG02647.hp2 HG03139.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1351-2490C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824706 | |||||||
| chr3:196824708 | C | T | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1351-2488C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824708 | |||||||
| chr3:196824723 | G | C | 4 | a0001c0002t0010g0105 a0001c0002t0032g0135 a0001c0002t0057g0077 others(1): Show |
4 | HG02622.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1351-2473G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824723 | |||||||
| chr3:196824735 | G | A | 106 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(103): Show |
106 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(103): Show |
intron_variant | MODIFIER | c.1351-2461G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824735 | |||||||
| chr3:196824767 | C | G | 96 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0045 others(93): Show |
96 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1351-2429C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824767 | |||||||
| chr3:196824778 | C | A | 53 | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0149 others(50): Show |
53 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(50): Show |
intron_variant | MODIFIER | c.1351-2418C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824778 | |||||||
| chr3:196824778 | C | T | 1 | a0001c0002t0001g0003 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1351-2418C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824778 | |||||||
| chr3:196824791 | G | A | 2 | a0001c0001t0026g0098 a0001c0001t0026g0099 |
2 | HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.1351-2405G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824791 | |||||||
| chr3:196824879 | G | A | 12 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0085 others(9): Show |
12 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.1351-2317G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824879 | |||||||
| chr3:196824882 | T | C | 20 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0011g0137 others(17): Show |
20 | HG00642.hp1 HG01975.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.1351-2314T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196824882 | |||||||
| chr3:196825065 | ACCAGACG others(291): Show |
A | 1 | a0001c0001t0002g0090 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1351-2125_1351-182 others(4): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196825065 | ||||||
| chr3:196825076 | C | T | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1351-2120C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825076 | |||||||
| chr3:196825084 | G | A | 1 | a0001c0001t0002g0078 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1351-2112G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825084 | |||||||
| chr3:196825115 | G | A | 1 | a0001c0001t0038g0060 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1351-2081G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825115 | |||||||
| chr3:196825125 | C | T | 2 | a0001c0001t0034g0009 a0001c0001t0058g0097 |
2 | HG00639.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1351-2071C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825125 | |||||||
| chr3:196825135 | T | C | 1 | a0001c0001t0007g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1351-2061T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825135 | |||||||
| chr3:196825137 | G | T | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | HG02615.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-2059G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825137 | |||||||
| chr3:196825186 | A | T | 1 | a0001c0001t0009g0119 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1351-2010A>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825186 | |||||||
| chr3:196825207 | G | A | 1 | a0001c0001t0061g0102 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1351-1989G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825207 | |||||||
| chr3:196825238 | CG | C | 52 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0052 others(49): Show |
52 | HG00099.hp1 HG00642.hp1 HG01070.hp1 others(49): Show |
intron_variant | MODIFIER | c.1351-1955delG | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196825238 | ||||||
| chr3:196825372 | A | G | 5 | a0001c0001t0007g0071 a0001c0001t0017g0103 a0001c0001t0037g0053 others(2): Show |
5 | HG02451.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1351-1824A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825372 | |||||||
| chr3:196825410 | A | G | 1 | a0001c0001t0001g0115 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1351-1786A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825410 | |||||||
| chr3:196825418 | C | T | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1778C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825418 | |||||||
| chr3:196825419 | A | G | 17 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(14): Show |
17 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(14): Show |
intron_variant | MODIFIER | c.1351-1777A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825419 | |||||||
| chr3:196825425 | C | T | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1771C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825425 | |||||||
| chr3:196825426 | A | G | 17 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(14): Show |
17 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(14): Show |
intron_variant | MODIFIER | c.1351-1770A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825426 | |||||||
| chr3:196825428 | A | G | 16 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(13): Show |
16 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(13): Show |
intron_variant | MODIFIER | c.1351-1768A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825428 | |||||||
| chr3:196825431 | T | C | 16 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(13): Show |
16 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(13): Show |
intron_variant | MODIFIER | c.1351-1765T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825431 | |||||||
| chr3:196825432 | G | A | 16 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(13): Show |
16 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(13): Show |
intron_variant | MODIFIER | c.1351-1764G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825432 | |||||||
| chr3:196825437 | T | A | 16 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(13): Show |
16 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(13): Show |
intron_variant | MODIFIER | c.1351-1759T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825437 | |||||||
| chr3:196825439 | T | C | 17 | a0001c0001t0003g0056 a0001c0001t0005g0048 a0001c0001t0005g0049 others(14): Show |
17 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(14): Show |
intron_variant | MODIFIER | c.1351-1757T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825439 | |||||||
| chr3:196825440 | A | G | 12 | a0001c0001t0003g0056 a0001c0001t0005g0059 a0001c0001t0014g0176 others(9): Show |
12 | HG01255.hp1 HG01891.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1351-1756A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825440 | |||||||
| chr3:196825447 | G | T | 7 | a0001c0001t0024g0007 a0001c0001t0033g0043 a0001c0001t0037g0053 others(4): Show |
7 | HG02055.hp1 HG02083.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.1351-1749G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825447 | |||||||
| chr3:196825450 | T | C | 3 | a0001c0001t0007g0071 a0001c0001t0033g0043 a0001c0002t0032g0135 |
3 | HG02055.hp1 HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1351-1746T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825450 | |||||||
| chr3:196825453 | C | T | 3 | a0001c0004t0019g0057 a0001c0004t0019g0061 a0001c0004t0027g0058 |
3 | HG02647.hp2 HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1351-1743C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825453 | |||||||
| chr3:196825459 | C | T | 19 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 others(16): Show |
19 | HG01496.hp1 HG01943.hp2 HG01975.hp2 others(16): Show |
intron_variant | MODIFIER | c.1351-1737C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825459 | |||||||
| chr3:196825460 | A | G | 3 | a0001c0001t0014g0176 a0001c0001t0014g0177 a0002c0005t0001g0157 |
3 | HG01981.hp2 HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1736A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825460 | |||||||
| chr3:196825462 | T | A | 1 | a0001c0001t0004g0123 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1351-1734T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825462 | |||||||
| chr3:196825470 | C | T | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1726C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825470 | |||||||
| chr3:196825471 | G | A | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1725G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825471 | |||||||
| chr3:196825475 | C | T | 18 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 others(15): Show |
18 | HG01070.hp2 HG01943.hp2 HG01975.hp2 others(15): Show |
intron_variant | MODIFIER | c.1351-1721C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825475 | |||||||
| chr3:196825480 | G | A | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1716G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825480 | |||||||
| chr3:196825485 | T | A | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1711T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825485 | |||||||
| chr3:196825487 | C | A | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1709C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825487 | |||||||
| chr3:196825494 | T | A | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1702T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825494 | |||||||
| chr3:196825500 | G | A | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1696G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825500 | |||||||
| chr3:196825504 | A | G | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1692A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825504 | |||||||
| chr3:196825506 | T | G | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1690T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825506 | |||||||
| chr3:196825507 | T | G | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1689T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825507 | |||||||
| chr3:196825520 | A | G | 2 | a0001c0001t0014g0176 a0001c0001t0014g0177 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1351-1676A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825520 | |||||||
| chr3:196825523 | A | G | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1351-1673A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825523 | |||||||
| chr3:196825524 | T | C | 1 | a0001c0001t0034g0009 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1351-1672T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825524 | |||||||
| chr3:196825599 | T | C | 7 | a0001c0001t0010g0140 a0001c0001t0021g0042 a0001c0002t0010g0105 others(4): Show |
7 | HG02615.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.1351-1597T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825599 | |||||||
| chr3:196825625 | A | C | 2 | a0001c0001t0034g0009 a0001c0001t0042g0001 |
2 | HG00642.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1351-1571A>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825625 | |||||||
| chr3:196825638 | G | A | 1 | a0001c0001t0005g0059 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1351-1558G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825638 | |||||||
| chr3:196825988 | C | A | 1 | a0001c0001t0056g0154 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1351-1208C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196825988 | |||||||
| chr3:196826013 | GT | G | 166 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(163): Show |
166 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.1351-1173delT | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196826013 | ||||||
| chr3:196826071 | C | T | 1 | a0001c0001t0004g0029 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1351-1125C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826071 | |||||||
| chr3:196826154 | A | G | 2 | a0001c0002t0005g0136 a0001c0002t0032g0135 |
2 | HG02622.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1351-1042A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826154 | |||||||
| chr3:196826160 | T | TTTTG | 15 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0012g0034 others(12): Show |
15 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(12): Show |
intron_variant | MODIFIER | c.1351-1016_1351-101 others(8): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196826160 | ||||||
| chr3:196826203 | G | A | 1 | a0001c0007t0044g0054 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1351-993G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826203 | |||||||
| chr3:196826339 | T | A | 7 | a0001c0001t0009g0126 a0001c0001t0013g0127 a0001c0001t0042g0001 others(4): Show |
7 | HG00639.hp1 HG00642.hp1 HG01255.hp2 others(4): Show |
intron_variant | MODIFIER | c.1351-857T>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826339 | |||||||
| chr3:196826363 | A | G | 2 | a0001c0001t0001g0030 a0001c0001t0048g0153 |
2 | HG03654.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.1351-833A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826363 | |||||||
| chr3:196826389 | C | G | 167 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(164): Show |
167 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.1351-807C>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826389 | |||||||
| chr3:196826467 | C | T | 14 | a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 others(11): Show |
14 | HG01074.hp1 HG01496.hp2 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1351-729C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826467 | |||||||
| chr3:196826480 | T | G | 4 | a0001c0001t0011g0137 a0001c0001t0011g0139 a0001c0001t0061g0102 others(1): Show |
4 | HG01975.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1351-716T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826480 | |||||||
| chr3:196826523 | TTTTTTTA others(10): Show |
T | 1 | a0001c0001t0004g0037 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1351-671_1351-655d others(19): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | 196826523 | ||||||
| chr3:196826564 | C | A | 175 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(172): Show |
175 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.1351-632C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826564 | |||||||
| chr3:196826730 | G | T | 20 | a0001c0001t0009g0126 a0001c0001t0011g0137 a0001c0001t0011g0139 others(17): Show |
20 | HG00639.hp1 HG00642.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.1351-466G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826730 | |||||||
| chr3:196826916 | G | A | 98 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1351-280G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826916 | |||||||
| chr3:196826996 | A | G | 160 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(157): Show |
160 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(157): Show |
intron_variant | MODIFIER | c.1351-200A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196826996 | |||||||
| chr3:196827062 | G | A | 1 | a0001c0001t0035g0144 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1351-134G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196827062 | |||||||
| chr3:196827149 | C | T | 163 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(160): Show |
163 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.1351-47C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | chr3 | 196827149 | |||||||
| chr3:196827395 | C | T | 65 | a0001c0001t0003g0031 a0001c0001t0004g0029 a0001c0001t0004g0036 others(62): Show |
65 | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.1488+62C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827395 | |||||||
| chr3:196827443 | G | T | 10 | a0001c0001t0009g0126 a0001c0001t0013g0127 a0001c0001t0014g0176 others(7): Show |
10 | HG00639.hp1 HG00642.hp1 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.1488+110G>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827443 | |||||||
| chr3:196827562 | C | T | 81 | a0001c0001t0003g0031 a0001c0001t0004g0029 a0001c0001t0004g0036 others(78): Show |
81 | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.1488+229C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827562 | |||||||
| chr3:196827582 | A | G | 65 | a0001c0001t0003g0031 a0001c0001t0004g0029 a0001c0001t0004g0036 others(62): Show |
65 | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.1488+249A>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827582 | |||||||
| chr3:196827609 | G | A | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1488+276G>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827609 | |||||||
| chr3:196827627 | T | G | 65 | a0001c0001t0003g0031 a0001c0001t0004g0029 a0001c0001t0004g0036 others(62): Show |
65 | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.1488+294T>G | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827627 | |||||||
| chr3:196827679 | G | C | 52 | a0001c0001t0003g0031 a0001c0001t0006g0062 a0001c0001t0008g0068 others(49): Show |
52 | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.1488+346G>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827679 | |||||||
| chr3:196827801 | C | T | 1 | a0001c0001t0066g0087 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1488+468C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827801 | |||||||
| chr3:196827809 | G | GCAGTTTG others(29): Show |
12 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0051 others(9): Show |
12 | HG01255.hp1 HG02055.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.1489-274_1489-239d others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827809 | ||||||
| chr3:196827809 | GCAGTTTG others(29): Show |
G | 1 | a0001c0001t0015g0170 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1489-274_1489-239d others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827809 | ||||||
| chr3:196827809 | GCAGTTTG others(101): Show |
G | 8 | a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 others(5): Show |
8 | HG01074.hp1 HG01496.hp2 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.1489-346_1489-239d others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827809 | ||||||
| chr3:196827822 | C | T | 1 | a0001c0001t0037g0053 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1488+489C>T | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827822 | |||||||
| chr3:196827823 | G | GTATCAAT others(65): Show |
1 | a0001c0001t0029g0044 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1489-425_1489-424i others(74): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827823 | ||||||
| chr3:196827930 | C | CGTATCAA others(29): Show |
16 | a0001c0001t0009g0126 a0001c0001t0011g0145 a0001c0001t0013g0127 others(13): Show |
16 | HG00639.hp1 HG00642.hp1 HG01255.hp2 others(13): Show |
intron_variant | MODIFIER | c.1489-354_1489-353i others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827930 | ||||||
| chr3:196827937 | ATCCTCAG others(137): Show |
A | 4 | a0001c0001t0007g0071 a0001c0001t0017g0100 a0001c0001t0017g0101 others(1): Show |
4 | HG02055.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1489-365_1489-222d others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827937 | ||||||
| chr3:196827966 | C | A | 17 | a0001c0001t0009g0126 a0001c0001t0011g0145 a0001c0001t0013g0127 others(14): Show |
17 | HG00639.hp1 HG00642.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.1489-353C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196827966 | |||||||
| chr3:196827966 | C | CGTATCAA others(29): Show |
19 | a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0011g0137 others(16): Show |
19 | HG00544.hp1 HG01070.hp2 HG01496.hp1 others(16): Show |
intron_variant | MODIFIER | c.1489-318_1489-317i others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827966 | ||||||
| chr3:196827973 | ATCCTCAG others(101): Show |
A | 3 | a0001c0001t0053g0006 a0001c0001t0054g0161 a0001c0001t0055g0146 |
3 | HG02895.hp2 HG03540.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1489-329_1489-222d others(2): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196827973 | ||||||
| chr3:196828009 | ATCCTCAG others(65): Show |
A | 12 | a0001c0001t0010g0140 a0001c0001t0016g0074 a0001c0001t0016g0076 others(9): Show |
12 | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.1489-293_1489-222d others(74): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196828009 | ||||||
| chr3:196828055 | C | CTGTTTAC others(29): Show |
8 | a0001c0001t0003g0010 a0001c0001t0003g0148 a0001c0001t0003g0151 others(5): Show |
8 | HG00408.hp1 HG02027.hp1 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.1489-239_1489-238i others(38): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | 196828055 | ||||||
| chr3:196828081 | C | A | 45 | a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0152 others(42): Show |
45 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(42): Show |
intron_variant | MODIFIER | c.1489-238C>A | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196828081 | |||||||
| chr3:196828183 | T | C | 1 | a0001c0001t0036g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1489-136T>C | PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 14/14 | chr3 | 196828183 |