Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5257 |
| ensemblid | ENSG00000102893.18 |
| hgncid | 8927 |
| symbol | PHKB |
| name | phosphorylase kinase regulatory subunit beta |
| refseq_nuc | NM_000293.3 |
| refseq_prot | NP_000284.1 |
| ensembl_nuc | ENST00000323584.10 |
| ensembl_prot | ENSP00000313504.5 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 47461331 |
| end | 47701523 |
| strand | + |
| ver | v1.2 |
| region | chr16:47461331-47701523 |
| region5000 | chr16:47456331-47706523 |
| regionname0 | PHKB_chr16_47461331_47701523 |
| regionname5000 | PHKB_chr16_47456331_47706523 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1093 | 67 | 46 | 7 | 3 | 2 | 7 | 1 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0002 | 0/0 | 1093 | 24 | 19 | 5 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0003 | 0/0 | 1093 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0004 | 0/0 | 1093 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAAAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0005 | 0/0 | 1093 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0006 | 0/0 | 1093 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0007 | 0/0 | 1093 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0008 | 0/0 | 1093 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| a0009 | 0/0 | 1093 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | MAGAA others(1088): Show |
chr16 | 47456331 | 47706523 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3279 | 66 | 46 | 7 | 3 | 2 | 6 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0001c0005 | 0/0 | 3279 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0002c0002 | 0/0 | 3279 | 21 | 16 | 5 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0002c0003 | 0/0 | 3279 | 3 | 3 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0003c0010 | 0/0 | 3279 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0004c0004 | 0/0 | 3279 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0005c0007 | 0/0 | 3279 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0006c0009 | 0/0 | 3279 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0007c0006 | 0/0 | 3279 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0008c0008 | 0/0 | 3279 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 | ||
| a0009c0011 | 0/0 | 3279 | 1 | 0 | 0 | 1 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | ATGGC others(3274): Show |
chr16 | 47456331 | 47706523 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 5459 | 44 | 27 | 5 | 3 | 2 | 6 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0002 | 0/0 | 5458 | 11 | 11 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0003 | 0/0 | 5458 | 4 | 4 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0004 | 0/0 | 5456 | 2 | 2 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5451): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0005 | 0/0 | 5458 | 2 | 0 | 2 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0006 | 1/0 | 5459 | 1 | 0 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0008 | 0/0 | 5459 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0001c0001t0009 | 0/0 | 5458 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0001c0005t0007 | 0/0 | 5459 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0002c0002t0002 | 0/0 | 5458 | 20 | 15 | 5 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0002c0002t0010 | 0/0 | 5458 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0002c0003t0002 | 0/0 | 5458 | 3 | 3 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0003c0010t0006 | 0/0 | 5459 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0004c0004t0004 | 0/0 | 5456 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5451): Show |
chr16 | 47456331 | 47706523 |
| a0005c0007t0011 | 0/0 | 5458 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0006c0009t0001 | 0/0 | 5459 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0007c0006t0001 | 0/0 | 5459 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| a0008c0008t0002 | 0/0 | 5458 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5453): Show |
chr16 | 47456331 | 47706523 |
| a0009c0011t0001 | 0/0 | 5459 | 1 | 0 | 0 | 1 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | AAGGC others(5454): Show |
chr16 | 47456331 | 47706523 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0066 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0002g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0003g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0004g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0004g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0005g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0005g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0006g0060 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0008g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0001t0009g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0001c0005t0007g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0002t0010g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0003t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0003t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0002c0003t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0003c0010t0006g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0004c0004t0004g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0005c0007t0011g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0006c0009t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0007c0006t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0008c0008t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| a0009c0011t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0071 | EUR | FIN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | CHS | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | CHS | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG00735 | hp1 | a0002 | c0002 | t0002 | g0029 | AMR | PUR | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG00735 | hp2 | a0001 | c0001 | t0005 | g0069 | AMR | PUR | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01074 | hp2 | a0002 | c0002 | t0002 | g0028 | AMR | PUR | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01109 | hp1 | a0002 | c0002 | t0002 | g0043 | AMR | PUR | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01255 | hp1 | a0002 | c0002 | t0002 | g0030 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01255 | hp2 | a0001 | c0001 | t0005 | g0068 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0073 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01261 | hp2 | a0003 | c0010 | t0006 | g0011 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01361 | hp1 | a0002 | c0002 | t0002 | g0036 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0082 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01496 | hp2 | a0004 | c0004 | t0004 | g0055 | AMR | CLM | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0025 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01884 | hp2 | a0001 | c0001 | t0008 | g0012 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01891 | hp1 | a0002 | c0002 | t0002 | g0047 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0064 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0027 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02257 | hp2 | a0002 | c0002 | t0002 | g0039 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02258 | hp2 | a0002 | c0002 | t0002 | g0044 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02280 | hp1 | a0001 | c0001 | t0003 | g0022 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02622 | hp1 | a0002 | c0002 | t0002 | g0052 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02630 | hp1 | a0002 | c0002 | t0002 | g0034 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0090 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02717 | hp2 | a0002 | c0002 | t0002 | g0051 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02723 | hp1 | a0002 | c0002 | t0002 | g0032 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02723 | hp2 | a0001 | c0001 | t0004 | g0053 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02818 | hp1 | a0001 | c0001 | t0003 | g0019 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02818 | hp2 | a0001 | c0001 | t0004 | g0054 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0092 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02895 | hp1 | a0002 | c0003 | t0002 | g0038 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0061 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0095 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02897 | hp1 | a0002 | c0003 | t0002 | g0037 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02922 | hp1 | a0002 | c0002 | t0002 | g0033 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02965 | hp1 | a0001 | c0001 | t0009 | g0005 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0063 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02970 | hp1 | a0001 | c0001 | t0002 | g0094 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02970 | hp2 | a0001 | c0001 | t0003 | g0020 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02976 | hp1 | a0002 | c0002 | t0002 | g0049 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0083 | SAS | PJL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03017 | hp2 | a0006 | c0009 | t0001 | g0004 | SAS | PJL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0023 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03098 | hp2 | a0002 | c0003 | t0002 | g0040 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03195 | hp1 | a0002 | c0002 | t0002 | g0050 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03209 | hp1 | a0002 | c0002 | t0002 | g0042 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0085 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0093 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0065 | SAS | PJL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03516 | hp1 | a0001 | c0001 | t0003 | g0021 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03540 | hp1 | a0002 | c0002 | t0002 | g0041 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0087 | AFR | GWD | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | BEB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03831 | hp2 | a0001 | c0005 | t0007 | g0081 | SAS | BEB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | STU | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0057 | SAS | STU | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA18906 | hp1 | a0007 | c0006 | t0001 | g0072 | AFR | YRI | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA18906 | hp2 | a0008 | c0008 | t0002 | g0046 | AFR | YRI | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA19030 | hp1 | a0002 | c0002 | t0002 | g0048 | AFR | LWK | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | LWK | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA19088 | hp2 | a0009 | c0011 | t0001 | g0059 | EAS | JPT | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA19240 | hp1 | a0002 | c0002 | t0002 | g0045 | AFR | YRI | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0075 | AFR | YRI | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0024 | AFR | ASW | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | ASW | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02109 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02109 | hp2 | a0005 | c0007 | t0011 | g0096 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03471 | hp1 | a0002 | c0002 | t0002 | g0031 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0078 | AFR | MSL | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0026 | AFR | USA | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| NA20300 | hp2 | a0002 | c0002 | t0010 | g0035 | AFR | USA | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0066 | REF | REF | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0006 | g0060 | REF | REF | PHKB_chr16_47456331_47706523 | PHKB | chr16 | 47456331 | 47706523 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:47461358 | G | C | 1 | a0004 | 1 | HG01496.hp2 | missense_variant | MODERATE | c.8G>C | p.Gly3Ala | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/31 | 28/5459 | 8/3282 | 3/1093 | chr16 | 47461358 | |||
| chr16:47511750 | A | G | 1 | a0009 | 1 | NA19088.hp2 | missense_variant | MODERATE | c.491A>G | p.Tyr164Cys | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/31 | 511/5459 | 491/3282 | 164/1093 | chr16 | 47511750 | |||
| chr16:47515562 | G | T | 1 | a0003 | 1 | HG01261.hp2 | missense_variant | MODERATE | c.555G>T | p.Met185Ile | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/31 | 575/5459 | 555/3282 | 185/1093 | chr16 | 47515562 | |||
| chr16:47641658 | C | A | 1 | a0007 | 1 | NA18906.hp1 | missense_variant | MODERATE | c.1574C>A | p.Pro525His | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/31 | 1594/5459 | 1574/3282 | 525/1093 | chr16 | 47641658 | |||
| chr16:47660809 | A | C | 1 | a0006 | 1 | HG03017.hp2 | missense_variant | MODERATE | c.2186A>C | p.Gln729Pro | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 22/31 | 2206/5459 | 2186/3282 | 729/1093 | chr16 | 47660809 | |||
| chr16:47663707 | A | G | 2 | a0002 a0008 |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
missense_variant | MODERATE | c.2309A>G | p.Tyr770Cys | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/31 | 2329/5459 | 2309/3282 | 770/1093 | chr16 | 47663707 | |||
| chr16:47664952 | A | G | 1 | a0008 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.2404A>G | p.Thr802Ala | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/31 | 2424/5459 | 2404/3282 | 802/1093 | chr16 | 47664952 | |||
| chr16:47669246 | A | T | 1 | a0005 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.2459A>T | p.Glu820Val | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/31 | 2479/5459 | 2459/3282 | 820/1093 | chr16 | 47669246 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:47641061 | T | C | 1 | a0001c0005 | 1 | HG03831.hp2 | synonymous_variant | LOW | c.1485T>C | p.Val495Val | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 15/31 | 1505/5459 | 1485/3282 | 495/1093 | chr16 | 47641061 | |||
| chr16:47661766 | C | G | 1 | a0002c0003 | 3 | HG02895.hp1 HG02897.hp1 HG03098.hp2 |
synonymous_variant | LOW | c.2244C>G | p.Leu748Leu | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 23/31 | 2264/5459 | 2244/3282 | 748/1093 | chr16 | 47661766 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:47699514 | T | A | 1 | a0001c0005t0007 | 1 | HG03831.hp2 | 3_prime_UTR_variant | MODIFIER | c.*148T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 148 | chr16 | 47699514 | ||||||
| chr16:47699592 | A | G | 1 | a0005c0007t0011 | 1 | HG02109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*226A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 226 | chr16 | 47699592 | ||||||
| chr16:47699956 | A | G | 1 | a0002c0002t0010 | 1 | NA20300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*590A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 590 | chr16 | 47699956 | ||||||
| chr16:47699974 | AAT | A | 2 | a0001c0001t0004 a0004c0004t0004 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
3_prime_UTR_variant | MODIFIER | c.*612_*613delTA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 612 | INFO_REALIGN_3_PRIME | chr16 | 47699974 | |||||
| chr16:47700235 | A | C | 1 | a0001c0001t0009 | 1 | HG02965.hp1 | 3_prime_UTR_variant | MODIFIER | c.*869A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 869 | chr16 | 47700235 | ||||||
| chr16:47700281 | G | A | 2 | a0001c0001t0004 a0004c0004t0004 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
3_prime_UTR_variant | MODIFIER | c.*915G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 915 | chr16 | 47700281 | ||||||
| chr16:47700348 | CA | C | 10 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show |
45 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(42): Show |
3_prime_UTR_variant | MODIFIER | c.*1000delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 1000 | INFO_REALIGN_3_PRIME | chr16 | 47700348 | |||||
| chr16:47700366 | AG | A | 1 | a0001c0001t0005 | 2 | HG00735.hp2 HG01255.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1001delG | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 1001 | chr16 | 47700366 | ||||||
| chr16:47701082 | G | T | 1 | a0001c0001t0008 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1716G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 1716 | chr16 | 47701082 | ||||||
| chr16:47701119 | G | A | 17 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
3_prime_UTR_variant | MODIFIER | c.*1753G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 1753 | chr16 | 47701119 | ||||||
| chr16:47701452 | A | G | 2 | a0001c0001t0003 a0005c0007t0011 |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2086A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 31/31 | 2086 | chr16 | 47701452 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:47461447 | G | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+21G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47461447 | |||||||
| chr16:47461559 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+133G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47461559 | |||||||
| chr16:47461746 | GGAATGTG others(10): Show |
G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.76+332_76+348delCC others(15): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47461746 | ||||||
| chr16:47461882 | T | C | 16 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG00280.hp1 HG01074.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.76+456T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47461882 | |||||||
| chr16:47461959 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.76+533C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47461959 | |||||||
| chr16:47462005 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.76+579T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47462005 | |||||||
| chr16:47462633 | C | CA | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+1221dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47462633 | ||||||
| chr16:47462726 | A | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.76+1300A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47462726 | |||||||
| chr16:47462885 | A | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+1459A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47462885 | |||||||
| chr16:47462943 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+1517T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47462943 | |||||||
| chr16:47463018 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+1592C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47463018 | |||||||
| chr16:47463159 | C | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.76+1733C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47463159 | |||||||
| chr16:47463695 | A | G | 2 | a0001c0001t0001g0091 a0001c0001t0001g0092 |
2 | HG02886.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.76+2269A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47463695 | |||||||
| chr16:47464248 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+2822A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47464248 | |||||||
| chr16:47464688 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.76+3262A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47464688 | |||||||
| chr16:47464948 | C | T | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.76+3522C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47464948 | |||||||
| chr16:47465585 | T | C | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.76+4159T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47465585 | |||||||
| chr16:47465745 | G | T | 6 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show |
6 | HG02258.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.76+4319G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47465745 | |||||||
| chr16:47466347 | G | A | 1 | a0001c0001t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.76+4921G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47466347 | |||||||
| chr16:47466634 | C | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.76+5208C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47466634 | |||||||
| chr16:47466672 | A | C | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.76+5246A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47466672 | |||||||
| chr16:47466811 | G | A | 1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.76+5385G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47466811 | |||||||
| chr16:47466857 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.76+5431C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47466857 | |||||||
| chr16:47467110 | C | T | 1 | a0001c0001t0001g0089 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.76+5684C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47467110 | |||||||
| chr16:47467222 | T | C | 3 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 |
3 | HG00735.hp1 HG01074.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.76+5796T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47467222 | |||||||
| chr16:47467640 | C | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.76+6214C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47467640 | |||||||
| chr16:47467765 | G | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+6339G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47467765 | |||||||
| chr16:47467876 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.76+6450C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47467876 | |||||||
| chr16:47468216 | A | G | 1 | a0004c0004t0004g0055 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.76+6790A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47468216 | |||||||
| chr16:47468274 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+6848T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47468274 | |||||||
| chr16:47468542 | A | G | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.76+7116A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47468542 | |||||||
| chr16:47468696 | C | T | 1 | a0001c0001t0001g0088 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.76+7270C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47468696 | |||||||
| chr16:47468711 | A | G | 1 | a0002c0002t0002g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.76+7285A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47468711 | |||||||
| chr16:47469262 | A | G | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.76+7836A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469262 | |||||||
| chr16:47469509 | A | G | 1 | a0001c0001t0001g0089 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.76+8083A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469509 | |||||||
| chr16:47469609 | G | A | 4 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show |
4 | HG00438.hp1 HG03831.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+8183G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469609 | |||||||
| chr16:47469707 | C | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.76+8281C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469707 | |||||||
| chr16:47469731 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+8305T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469731 | |||||||
| chr16:47469736 | G | A | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.76+8310G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469736 | |||||||
| chr16:47469749 | C | A | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.76+8323C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469749 | |||||||
| chr16:47469810 | A | G | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.76+8384A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47469810 | |||||||
| chr16:47469928 | GGTAGTA | G | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.76+8509_76+8514del others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47469928 | ||||||
| chr16:47470404 | A | G | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.76+8978A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47470404 | |||||||
| chr16:47470429 | A | T | 1 | a0001c0001t0001g0087 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.76+9003A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47470429 | |||||||
| chr16:47470680 | A | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+9254A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47470680 | |||||||
| chr16:47470683 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+9257C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47470683 | |||||||
| chr16:47471072 | A | G | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.76+9646A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47471072 | |||||||
| chr16:47471175 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.76+9749G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47471175 | |||||||
| chr16:47471258 | C | A | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.76+9832C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47471258 | |||||||
| chr16:47471437 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+10011T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47471437 | |||||||
| chr16:47472379 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.76+10953C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47472379 | |||||||
| chr16:47472535 | C | G | 1 | a0001c0001t0001g0086 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.76+11109C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47472535 | |||||||
| chr16:47472558 | G | A | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.76+11132G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47472558 | |||||||
| chr16:47472688 | A | G | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.76+11262A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47472688 | |||||||
| chr16:47472699 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.76+11273G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47472699 | |||||||
| chr16:47472894 | C | T | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.76+11468C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47472894 | |||||||
| chr16:47473050 | T | G | 41 | a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0002g0001 others(38): Show |
42 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.76+11624T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47473050 | |||||||
| chr16:47473197 | G | T | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.76+11771G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47473197 | |||||||
| chr16:47473218 | A | AT | 31 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(28): Show |
32 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(29): Show |
intron_variant | MODIFIER | c.76+11826dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473218 | A | ATT | 12 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0002g0064 others(9): Show |
12 | HG01109.hp1 HG01891.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.76+11825_76+11826d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473218 | A | ATTTTTTT | 5 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 others(2): Show |
5 | HG01496.hp1 HG02257.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.76+11820_76+11826d others(9): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473218 | ATTTTTTT others(4): Show |
A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+11816_76+11826d others(13): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473218 | ATTTTTTT others(7): Show |
A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.76+11813_76+11826d others(16): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473218 | ATTTTTTT others(11): Show |
A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.76+11809_76+11826d others(20): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473218 | ATTTTTTT others(12): Show |
A | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.76+11808_76+11826d others(21): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47473218 | ||||||
| chr16:47473225 | T | TC | 5 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(2): Show |
6 | HG01884.hp1 HG02109.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.76+11799_76+11800i others(3): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47473225 | |||||||
| chr16:47475311 | G | T | 2 | a0001c0001t0002g0001 a0001c0001t0002g0027 |
3 | HG02055.hp2 HG02109.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.76+13885G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47475311 | |||||||
| chr16:47475387 | C | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.76+13961C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47475387 | |||||||
| chr16:47475735 | CTTAA | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+14314_76+14317d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47475735 | ||||||
| chr16:47475953 | G | C | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.76+14527G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47475953 | |||||||
| chr16:47476111 | CCTTT | C | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.76+14689_76+14692d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47476111 | ||||||
| chr16:47476271 | G | A | 41 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(38): Show |
42 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.76+14845G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47476271 | |||||||
| chr16:47476279 | T | TTAACTTA others(228): Show |
2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.76+14869_76+14870i others(237): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47476279 | ||||||
| chr16:47476702 | A | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.76+15276A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47476702 | |||||||
| chr16:47476761 | C | T | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.76+15335C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47476761 | |||||||
| chr16:47476797 | C | T | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.76+15371C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47476797 | |||||||
| chr16:47476820 | T | C | 1 | a0001c0001t0001g0007 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.76+15394T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47476820 | |||||||
| chr16:47476856 | T | G | 1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.76+15430T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47476856 | |||||||
| chr16:47477052 | G | T | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.76+15626G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47477052 | |||||||
| chr16:47477176 | G | C | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.76+15750G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47477176 | |||||||
| chr16:47477352 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+15926C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47477352 | |||||||
| chr16:47477412 | G | A | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.76+15986G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47477412 | |||||||
| chr16:47477574 | C | CA | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+16152dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47477574 | ||||||
| chr16:47477581 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.76+16155C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47477581 | |||||||
| chr16:47478061 | A | C | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.76+16635A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47478061 | |||||||
| chr16:47478415 | G | T | 3 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 |
4 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.76+16989G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47478415 | |||||||
| chr16:47478466 | A | AT | 38 | a0001c0001t0001g0002 a0001c0001t0001g0074 a0001c0001t0001g0075 others(35): Show |
40 | HG00735.hp1 HG01109.hp1 HG01255.hp1 others(37): Show |
intron_variant | MODIFIER | c.76+17061dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47478466 | ||||||
| chr16:47478466 | A | ATT | 6 | a0001c0001t0001g0063 a0001c0001t0002g0027 a0001c0001t0002g0064 others(3): Show |
6 | HG01891.hp2 HG02055.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.76+17060_76+17061d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47478466 | ||||||
| chr16:47478466 | A | T | 1 | a0003c0010t0006g0011 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.76+17040A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47478466 | |||||||
| chr16:47478466 | ATTTTTTT others(3): Show |
A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.76+17052_76+17061d others(12): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47478466 | ||||||
| chr16:47478690 | T | C | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.76+17264T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47478690 | |||||||
| chr16:47478896 | A | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.76+17470A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47478896 | |||||||
| chr16:47479256 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.76+17830C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47479256 | |||||||
| chr16:47479450 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-17949T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47479450 | |||||||
| chr16:47479621 | G | A | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.77-17778G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47479621 | |||||||
| chr16:47480772 | G | A | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.77-16627G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47480772 | |||||||
| chr16:47481322 | C | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.77-16077C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47481322 | |||||||
| chr16:47481679 | C | T | 1 | a0002c0002t0002g0041 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.77-15720C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47481679 | |||||||
| chr16:47481766 | A | G | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.77-15633A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47481766 | |||||||
| chr16:47481838 | T | C | 2 | a0001c0001t0001g0006 a0001c0001t0009g0005 |
2 | HG02622.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.77-15561T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47481838 | |||||||
| chr16:47481866 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.77-15533C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47481866 | |||||||
| chr16:47482098 | C | T | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.77-15301C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47482098 | |||||||
| chr16:47482245 | A | T | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.77-15154A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47482245 | |||||||
| chr16:47482373 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.77-15026T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47482373 | |||||||
| chr16:47482812 | C | G | 1 | a0001c0001t0003g0022 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.77-14587C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47482812 | |||||||
| chr16:47482901 | A | AGG | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-14497_77-14496d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47482901 | ||||||
| chr16:47483034 | C | CT | 26 | a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0067 others(23): Show |
28 | HG00280.hp2 HG00438.hp2 HG01261.hp1 others(25): Show |
intron_variant | MODIFIER | c.77-14344dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47483034 | ||||||
| chr16:47483034 | CT | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-14344delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47483034 | ||||||
| chr16:47483099 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.77-14300C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47483099 | |||||||
| chr16:47483189 | CCA | C | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-14208_77-14207d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47483189 | ||||||
| chr16:47483190 | C | T | 1 | a0001c0001t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.77-14209C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47483190 | |||||||
| chr16:47483194 | A | C | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-14205A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47483194 | |||||||
| chr16:47483197 | C | A | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-14202C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47483197 | |||||||
| chr16:47484148 | A | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.77-13251A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47484148 | |||||||
| chr16:47484229 | C | T | 3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.77-13170C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47484229 | |||||||
| chr16:47484386 | G | A | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.77-13013G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47484386 | |||||||
| chr16:47484477 | A | G | 1 | a0001c0001t0001g0082 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.77-12922A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47484477 | |||||||
| chr16:47484975 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.77-12424A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47484975 | |||||||
| chr16:47485126 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.77-12273T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47485126 | |||||||
| chr16:47485273 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.77-12126A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47485273 | |||||||
| chr16:47485350 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-12049A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47485350 | |||||||
| chr16:47485391 | A | G | 3 | a0001c0001t0001g0086 a0001c0001t0005g0068 a0001c0001t0005g0069 |
3 | HG00735.hp2 HG01255.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.77-12008A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47485391 | |||||||
| chr16:47485817 | C | T | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.77-11582C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47485817 | |||||||
| chr16:47486052 | T | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-11347T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47486052 | |||||||
| chr16:47486060 | A | G | 2 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.77-11339A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47486060 | |||||||
| chr16:47486119 | A | T | 2 | a0002c0003t0002g0037 a0002c0003t0002g0038 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.77-11280A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47486119 | |||||||
| chr16:47486306 | G | A | 2 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.77-11093G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47486306 | |||||||
| chr16:47486408 | G | C | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.77-10991G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47486408 | |||||||
| chr16:47486652 | C | T | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.77-10747C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47486652 | |||||||
| chr16:47487260 | T | G | 32 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.77-10139T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47487260 | |||||||
| chr16:47487413 | TTA | T | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(75): Show |
79 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(76): Show |
intron_variant | MODIFIER | c.77-9970_77-9969del others(2): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47487413 | ||||||
| chr16:47487427 | A | T | 3 | a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0092 |
3 | HG02886.hp2 HG03098.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.77-9972A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47487427 | |||||||
| chr16:47487428 | TA | T | 4 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show |
4 | HG00438.hp1 HG03831.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-9970delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47487428 | |||||||
| chr16:47487429 | A | T | 6 | a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 others(3): Show |
6 | HG01261.hp1 HG01361.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.77-9970A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47487429 | |||||||
| chr16:47487429 | ATT | A | 10 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show |
11 | HG01109.hp1 HG02055.hp2 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.77-9961_77-9960del others(2): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47487429 | ||||||
| chr16:47488334 | A | G | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.77-9065A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47488334 | |||||||
| chr16:47488958 | T | A | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.77-8441T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47488958 | |||||||
| chr16:47489124 | A | C | 3 | a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0078 |
4 | HG02559.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.77-8275A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47489124 | |||||||
| chr16:47489153 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-8246T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47489153 | |||||||
| chr16:47489162 | C | T | 1 | a0001c0001t0001g0058 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.77-8237C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47489162 | |||||||
| chr16:47489211 | C | T | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.77-8188C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47489211 | |||||||
| chr16:47489825 | T | G | 2 | a0001c0001t0005g0068 a0001c0001t0005g0069 |
2 | HG00735.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.77-7574T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47489825 | |||||||
| chr16:47489960 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.77-7439A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47489960 | |||||||
| chr16:47490201 | A | G | 3 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 |
4 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.77-7198A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47490201 | |||||||
| chr16:47490270 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.77-7129C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47490270 | |||||||
| chr16:47490517 | A | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.77-6882A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47490517 | |||||||
| chr16:47490790 | G | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-6609G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47490790 | |||||||
| chr16:47490807 | C | A | 1 | a0001c0001t0001g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.77-6592C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47490807 | |||||||
| chr16:47491163 | A | G | 2 | a0002c0002t0002g0047 a0008c0008t0002g0046 |
2 | HG01891.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.77-6236A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47491163 | |||||||
| chr16:47491848 | G | A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.77-5551G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47491848 | |||||||
| chr16:47492722 | C | T | 17 | a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 others(14): Show |
17 | HG01109.hp1 HG01361.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.77-4677C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47492722 | |||||||
| chr16:47492741 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.77-4658G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47492741 | |||||||
| chr16:47492824 | C | T | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.77-4575C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47492824 | |||||||
| chr16:47492845 | C | T | 22 | a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 others(19): Show |
22 | HG01109.hp1 HG01361.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.77-4554C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47492845 | |||||||
| chr16:47492907 | A | T | 2 | a0001c0001t0001g0006 a0001c0001t0009g0005 |
2 | HG02622.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.77-4492A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47492907 | |||||||
| chr16:47492908 | C | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG00280.hp1 HG01074.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.77-4491C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47492908 | |||||||
| chr16:47493146 | C | T | 3 | a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0040 |
3 | HG02895.hp1 HG02897.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.77-4253C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47493146 | |||||||
| chr16:47493173 | C | G | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.77-4226C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47493173 | |||||||
| chr16:47493190 | C | T | 5 | a0001c0001t0005g0068 a0001c0001t0005g0069 a0002c0002t0002g0028 others(2): Show |
5 | HG00735.hp1 HG00735.hp2 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.77-4209C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47493190 | |||||||
| chr16:47493416 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.77-3983G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47493416 | |||||||
| chr16:47493745 | A | C | 2 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.77-3654A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47493745 | |||||||
| chr16:47494255 | C | T | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.77-3144C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47494255 | |||||||
| chr16:47494578 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.77-2821C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47494578 | |||||||
| chr16:47494620 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-2779T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47494620 | |||||||
| chr16:47494664 | G | A | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.77-2735G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47494664 | |||||||
| chr16:47494805 | A | G | 7 | a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 others(4): Show |
7 | HG01891.hp1 HG02258.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-2594A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47494805 | |||||||
| chr16:47495190 | C | CTTT | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-2196_77-2194dup others(3): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | 47495190 | ||||||
| chr16:47495233 | T | C | 1 | a0001c0001t0001g0057 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.77-2166T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47495233 | |||||||
| chr16:47495387 | T | C | 1 | a0001c0001t0003g0022 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.77-2012T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47495387 | |||||||
| chr16:47495430 | C | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.77-1969C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47495430 | |||||||
| chr16:47495666 | T | G | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.77-1733T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47495666 | |||||||
| chr16:47495685 | T | C | 1 | a0002c0002t0002g0048 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.77-1714T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47495685 | |||||||
| chr16:47495912 | G | A | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-1487G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47495912 | |||||||
| chr16:47496124 | C | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.77-1275C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47496124 | |||||||
| chr16:47496519 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.77-880T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47496519 | |||||||
| chr16:47496730 | G | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.77-669G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47496730 | |||||||
| chr16:47496953 | T | C | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.77-446T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47496953 | |||||||
| chr16:47497191 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.77-208A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47497191 | |||||||
| chr16:47497351 | T | A | 1 | a0001c0001t0001g0084 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.77-48T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | chr16 | 47497351 | |||||||
| chr16:47497681 | A | G | 1 | a0001c0001t0001g0089 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.166+193A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 2/30 | chr16 | 47497681 | |||||||
| chr16:47498234 | C | T | 1 | a0002c0002t0002g0045 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.166+746C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 2/30 | chr16 | 47498234 | |||||||
| chr16:47498267 | A | C | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.166+779A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 2/30 | chr16 | 47498267 | |||||||
| chr16:47498566 | C | T | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.166+1078C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 2/30 | chr16 | 47498566 | |||||||
| chr16:47498583 | T | G | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.166+1095T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 2/30 | chr16 | 47498583 | |||||||
| chr16:47500054 | C | CT | 32 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.305+171dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | 47500054 | ||||||
| chr16:47500914 | A | T | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.305+1020A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 3/30 | chr16 | 47500914 | |||||||
| chr16:47501341 | C | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.305+1447C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 3/30 | chr16 | 47501341 | |||||||
| chr16:47501985 | G | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.306-1006G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 3/30 | chr16 | 47501985 | |||||||
| chr16:47501998 | A | G | 3 | a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 |
3 | HG02622.hp1 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.306-993A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 3/30 | chr16 | 47501998 | |||||||
| chr16:47503388 | G | A | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.405+298G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47503388 | |||||||
| chr16:47504099 | A | G | 5 | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0079 others(2): Show |
5 | HG00280.hp2 HG03017.hp1 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.405+1009A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47504099 | |||||||
| chr16:47504561 | C | A | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.405+1471C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47504561 | |||||||
| chr16:47504573 | A | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.405+1483A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47504573 | |||||||
| chr16:47504940 | G | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+1850G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47504940 | |||||||
| chr16:47505155 | C | T | 3 | a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0078 |
4 | HG02559.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.405+2065C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47505155 | |||||||
| chr16:47505299 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.405+2209C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47505299 | |||||||
| chr16:47505476 | A | G | 1 | a0002c0002t0002g0041 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.405+2386A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47505476 | |||||||
| chr16:47505676 | A | T | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.405+2586A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47505676 | |||||||
| chr16:47505757 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.405+2667G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47505757 | |||||||
| chr16:47506027 | CA | C | 4 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(1): Show |
5 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.405+2955delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr16 | 47506027 | ||||||
| chr16:47506139 | G | A | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.405+3049G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47506139 | |||||||
| chr16:47506269 | T | TA | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+3188dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr16 | 47506269 | ||||||
| chr16:47506603 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.405+3513T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47506603 | |||||||
| chr16:47507014 | C | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.405+3924C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47507014 | |||||||
| chr16:47507081 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.405+3991C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47507081 | |||||||
| chr16:47507193 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+4103T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47507193 | |||||||
| chr16:47507604 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.406-4061C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47507604 | |||||||
| chr16:47507606 | C | T | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.406-4059C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47507606 | |||||||
| chr16:47507654 | G | T | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.406-4011G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47507654 | |||||||
| chr16:47509837 | T | TG | 20 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.406-1827dupG | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr16 | 47509837 | ||||||
| chr16:47509926 | A | T | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.406-1739A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47509926 | |||||||
| chr16:47509978 | A | T | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.406-1687A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47509978 | |||||||
| chr16:47510132 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.406-1533C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47510132 | |||||||
| chr16:47510523 | C | T | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.406-1142C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47510523 | |||||||
| chr16:47510786 | A | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.406-879A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47510786 | |||||||
| chr16:47510861 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.406-804C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47510861 | |||||||
| chr16:47510954 | G | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.406-711G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47510954 | |||||||
| chr16:47511575 | T | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.406-90T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 4/30 | chr16 | 47511575 | |||||||
| chr16:47511876 | T | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.513+104T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47511876 | |||||||
| chr16:47512202 | C | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.513+430C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47512202 | |||||||
| chr16:47512254 | A | G | 3 | a0002c0002t0002g0034 a0002c0002t0002g0043 a0002c0002t0010g0035 |
3 | HG01109.hp1 HG02630.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.513+482A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47512254 | |||||||
| chr16:47512598 | A | G | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.513+826A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47512598 | |||||||
| chr16:47513212 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.513+1440C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47513212 | |||||||
| chr16:47513319 | A | G | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.513+1547A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47513319 | |||||||
| chr16:47513696 | A | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.514-1825A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47513696 | |||||||
| chr16:47513735 | A | C | 3 | a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 |
3 | HG02622.hp1 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.514-1786A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47513735 | |||||||
| chr16:47513786 | T | G | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.514-1735T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47513786 | |||||||
| chr16:47514052 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.514-1469C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514052 | |||||||
| chr16:47514227 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.514-1294G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514227 | |||||||
| chr16:47514287 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.514-1234T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514287 | |||||||
| chr16:47514343 | C | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.514-1178C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514343 | |||||||
| chr16:47514615 | G | A | 1 | a0002c0002t0002g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.514-906G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514615 | |||||||
| chr16:47514642 | A | G | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.514-879A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514642 | |||||||
| chr16:47514940 | C | A | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.514-581C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47514940 | |||||||
| chr16:47515086 | C | T | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.514-435C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 5/30 | chr16 | 47515086 | |||||||
| chr16:47515605 | T | A | 1 | a0001c0001t0003g0019 | 1 | HG02818.hp1 | splice_region_variant&intron_variant | LOW | c.594+4T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47515605 | |||||||
| chr16:47515625 | T | C | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.594+24T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47515625 | |||||||
| chr16:47515686 | G | A | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.594+85G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47515686 | |||||||
| chr16:47516606 | A | G | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.594+1005A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47516606 | |||||||
| chr16:47516699 | ATT | A | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.594+1099_594+1100d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47516699 | |||||||
| chr16:47516837 | A | T | 2 | a0001c0001t0004g0053 a0001c0001t0004g0054 |
2 | HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.594+1236A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47516837 | |||||||
| chr16:47517136 | C | G | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.594+1535C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47517136 | |||||||
| chr16:47517255 | A | AT | 13 | a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0091 others(10): Show |
14 | HG01109.hp2 HG01884.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.594+1671dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47517255 | ||||||
| chr16:47517255 | AT | A | 5 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0002c0002t0002g0049 others(2): Show |
5 | HG01496.hp2 HG02723.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.594+1671delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47517255 | ||||||
| chr16:47517880 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.594+2279A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47517880 | |||||||
| chr16:47517895 | C | T | 3 | a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0092 |
3 | HG02886.hp2 HG03098.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.594+2294C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47517895 | |||||||
| chr16:47518122 | T | C | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.594+2521T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47518122 | |||||||
| chr16:47518290 | A | T | 1 | a0002c0002t0002g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.594+2689A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47518290 | |||||||
| chr16:47518591 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.594+2990G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47518591 | |||||||
| chr16:47518937 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.594+3336G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47518937 | |||||||
| chr16:47519096 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.594+3495A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47519096 | |||||||
| chr16:47519522 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.594+3921C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47519522 | |||||||
| chr16:47521109 | C | T | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.594+5508C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47521109 | |||||||
| chr16:47521170 | G | T | 3 | a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 |
3 | HG02622.hp1 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.594+5569G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47521170 | |||||||
| chr16:47521381 | C | T | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.594+5780C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47521381 | |||||||
| chr16:47521643 | G | A | 3 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 |
3 | HG00735.hp1 HG01074.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.594+6042G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47521643 | |||||||
| chr16:47522018 | A | G | 1 | a0001c0001t0002g0064 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.594+6417A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47522018 | |||||||
| chr16:47522557 | T | C | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.594+6956T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47522557 | |||||||
| chr16:47522610 | A | C | 3 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0088 |
3 | HG01261.hp1 HG01361.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.594+7009A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47522610 | |||||||
| chr16:47522961 | A | AT | 5 | a0001c0001t0001g0063 a0001c0001t0002g0064 a0001c0001t0004g0053 others(2): Show |
5 | HG01496.hp2 HG01891.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.594+7380dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47522961 | ||||||
| chr16:47523477 | T | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.594+7876T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47523477 | |||||||
| chr16:47523722 | T | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.594+8121T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47523722 | |||||||
| chr16:47523867 | T | A | 2 | a0001c0001t0005g0068 a0001c0001t0005g0069 |
2 | HG00735.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.594+8266T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47523867 | |||||||
| chr16:47523877 | A | G | 1 | a0001c0001t0001g0007 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.594+8276A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47523877 | |||||||
| chr16:47524111 | A | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.594+8510A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47524111 | |||||||
| chr16:47524889 | A | G | 26 | a0001c0001t0001g0063 a0002c0002t0002g0028 a0002c0002t0002g0029 others(23): Show |
26 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.594+9288A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47524889 | |||||||
| chr16:47525218 | A | G | 2 | a0001c0001t0001g0091 a0001c0001t0001g0092 |
2 | HG02886.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.594+9617A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47525218 | |||||||
| chr16:47525971 | G | A | 4 | a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 others(1): Show |
4 | HG01891.hp1 HG02258.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.594+10370G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47525971 | |||||||
| chr16:47525992 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.594+10391C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47525992 | |||||||
| chr16:47526221 | CA | C | 38 | a0001c0001t0001g0063 a0001c0001t0002g0001 a0001c0001t0002g0023 others(35): Show |
39 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.594+10622delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47526221 | ||||||
| chr16:47526340 | G | A | 1 | a0001c0001t0001g0057 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.594+10739G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47526340 | |||||||
| chr16:47526384 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.594+10783C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47526384 | |||||||
| chr16:47526460 | T | C | 1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.594+10859T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47526460 | |||||||
| chr16:47526746 | C | A | 2 | a0001c0001t0001g0006 a0001c0001t0009g0005 |
2 | HG02622.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.594+11145C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47526746 | |||||||
| chr16:47527206 | C | T | 1 | a0001c0001t0001g0076 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.594+11605C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47527206 | |||||||
| chr16:47527355 | A | C | 4 | a0001c0001t0001g0063 a0002c0002t0002g0049 a0002c0002t0002g0050 others(1): Show |
4 | HG02622.hp1 HG02965.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.594+11754A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47527355 | |||||||
| chr16:47527836 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.594+12235T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47527836 | |||||||
| chr16:47528181 | A | C | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.594+12580A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47528181 | |||||||
| chr16:47528348 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.594+12747T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47528348 | |||||||
| chr16:47528696 | C | CT | 49 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(46): Show |
50 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(47): Show |
intron_variant | MODIFIER | c.594+13112dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47528696 | ||||||
| chr16:47528696 | C | CTT | 4 | a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 others(1): Show |
4 | HG01891.hp1 HG02258.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.594+13111_594+1311 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47528696 | ||||||
| chr16:47528722 | G | A | 1 | a0001c0001t0002g0064 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.594+13121G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47528722 | |||||||
| chr16:47528823 | A | G | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.594+13222A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47528823 | |||||||
| chr16:47528988 | C | G | 1 | a0002c0002t0002g0045 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.594+13387C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47528988 | |||||||
| chr16:47529345 | A | AT | 35 | a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0002g0001 others(32): Show |
36 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.594+13764dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47529345 | ||||||
| chr16:47529345 | A | ATTTTTTT others(3): Show |
3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.594+13755_594+1376 others(14): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47529345 | ||||||
| chr16:47529433 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.594+13832C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47529433 | |||||||
| chr16:47529890 | G | A | 40 | a0001c0001t0001g0063 a0001c0001t0002g0001 a0001c0001t0002g0023 others(37): Show |
41 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.594+14289G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47529890 | |||||||
| chr16:47530132 | C | CT | 5 | a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0003g0021 others(2): Show |
5 | HG00735.hp2 HG01255.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.594+14551dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47530132 | ||||||
| chr16:47530132 | CT | C | 7 | a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0023 others(4): Show |
8 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.594+14551delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47530132 | ||||||
| chr16:47530132 | CTTTTTTT others(3): Show |
C | 2 | a0001c0001t0001g0058 a0001c0001t0001g0089 |
2 | HG00438.hp1 HG00438.hp2 |
intron_variant | MODIFIER | c.594+14542_594+1455 others(14): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47530132 | ||||||
| chr16:47530676 | T | C | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.594+15075T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47530676 | |||||||
| chr16:47530736 | T | C | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.594+15135T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47530736 | |||||||
| chr16:47530988 | C | T | 1 | a0001c0005t0007g0081 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.594+15387C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47530988 | |||||||
| chr16:47531254 | A | T | 32 | a0001c0001t0001g0063 a0001c0001t0002g0001 a0001c0001t0002g0023 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.594+15653A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47531254 | |||||||
| chr16:47531694 | T | G | 1 | a0001c0001t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.595-15739T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47531694 | |||||||
| chr16:47532179 | A | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-15254A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47532179 | |||||||
| chr16:47532269 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-15164A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47532269 | |||||||
| chr16:47532957 | G | A | 1 | a0002c0002t0002g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.595-14476G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47532957 | |||||||
| chr16:47533062 | A | G | 2 | a0001c0001t0001g0058 a0001c0001t0001g0089 |
2 | HG00438.hp1 HG00438.hp2 |
intron_variant | MODIFIER | c.595-14371A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47533062 | |||||||
| chr16:47533085 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-14348C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47533085 | |||||||
| chr16:47533492 | G | A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.595-13941G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47533492 | |||||||
| chr16:47533981 | G | C | 2 | a0001c0001t0001g0058 a0001c0001t0001g0089 |
2 | HG00438.hp1 HG00438.hp2 |
intron_variant | MODIFIER | c.595-13452G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47533981 | |||||||
| chr16:47534466 | G | C | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.595-12967G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47534466 | |||||||
| chr16:47535821 | C | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.595-11612C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47535821 | |||||||
| chr16:47536256 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.595-11177G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47536256 | |||||||
| chr16:47536279 | G | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-11154G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47536279 | |||||||
| chr16:47536346 | C | T | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.595-11087C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47536346 | |||||||
| chr16:47536771 | A | G | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.595-10662A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47536771 | |||||||
| chr16:47536910 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.595-10523C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47536910 | |||||||
| chr16:47537113 | T | C | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.595-10320T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47537113 | |||||||
| chr16:47537259 | C | T | 1 | a0002c0002t0002g0039 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.595-10174C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47537259 | |||||||
| chr16:47537399 | A | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.595-10034A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47537399 | |||||||
| chr16:47537490 | C | A | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.595-9943C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47537490 | |||||||
| chr16:47537689 | G | T | 1 | a0002c0002t0002g0034 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.595-9744G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47537689 | |||||||
| chr16:47537872 | T | TTC | 2 | a0001c0001t0001g0084 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.595-9531_595-9530d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47537872 | ||||||
| chr16:47537872 | T | TTCTC | 2 | a0001c0001t0001g0086 a0001c0001t0001g0092 |
2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.595-9533_595-9530d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47537872 | ||||||
| chr16:47537872 | TTC | T | 2 | a0002c0003t0002g0037 a0002c0003t0002g0038 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.595-9531_595-9530d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47537872 | ||||||
| chr16:47537902 | C | CTCTCTCT others(3): Show |
2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.595-9530_595-9529i others(12): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47537902 | ||||||
| chr16:47537902 | C | CTCTCTCT others(1): Show |
2 | a0001c0001t0002g0024 a0005c0007t0011g0096 |
2 | HG02109.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.595-9530_595-9529i others(10): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47537902 | ||||||
| chr16:47537902 | C | CTCTT | 32 | a0001c0001t0001g0077 a0001c0001t0002g0001 a0001c0001t0002g0023 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.595-9530_595-9529i others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47537902 | ||||||
| chr16:47537902 | C | T | 5 | a0001c0001t0002g0095 a0002c0002t0002g0042 a0002c0002t0002g0051 others(2): Show |
5 | HG02717.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.595-9531C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47537902 | |||||||
| chr16:47538083 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-9350C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47538083 | |||||||
| chr16:47538302 | G | A | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.595-9131G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47538302 | |||||||
| chr16:47538428 | A | G | 1 | a0001c0001t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.595-9005A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47538428 | |||||||
| chr16:47538566 | C | T | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.595-8867C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47538566 | |||||||
| chr16:47538695 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-8738T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47538695 | |||||||
| chr16:47538836 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.595-8597T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47538836 | |||||||
| chr16:47539379 | C | G | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.595-8054C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47539379 | |||||||
| chr16:47539446 | A | G | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.595-7987A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47539446 | |||||||
| chr16:47539965 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-7468G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47539965 | |||||||
| chr16:47540452 | G | T | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.595-6981G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47540452 | |||||||
| chr16:47540493 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-6940T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47540493 | |||||||
| chr16:47540748 | G | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.595-6685G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47540748 | |||||||
| chr16:47540819 | G | GT | 5 | a0002c0002t0002g0042 a0002c0002t0002g0047 a0002c0002t0002g0049 others(2): Show |
5 | HG01891.hp1 HG02717.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.595-6591dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47540819 | ||||||
| chr16:47540819 | GT | G | 57 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(54): Show |
59 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.595-6591delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47540819 | ||||||
| chr16:47540819 | GTT | G | 5 | a0001c0001t0002g0095 a0001c0001t0003g0019 a0001c0001t0003g0020 others(2): Show |
5 | HG02280.hp1 HG02818.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.595-6592_595-6591d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | 47540819 | ||||||
| chr16:47540822 | T | G | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.595-6611T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47540822 | |||||||
| chr16:47541397 | T | C | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.595-6036T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47541397 | |||||||
| chr16:47541572 | A | G | 1 | a0001c0001t0001g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.595-5861A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47541572 | |||||||
| chr16:47541772 | T | G | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.595-5661T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47541772 | |||||||
| chr16:47542216 | G | A | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.595-5217G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47542216 | |||||||
| chr16:47542397 | T | C | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.595-5036T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47542397 | |||||||
| chr16:47542401 | A | G | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.595-5032A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47542401 | |||||||
| chr16:47542664 | C | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG00280.hp1 HG01074.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.595-4769C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47542664 | |||||||
| chr16:47542688 | T | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-4745T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47542688 | |||||||
| chr16:47543301 | G | A | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.595-4132G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47543301 | |||||||
| chr16:47543348 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-4085T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47543348 | |||||||
| chr16:47543367 | G | T | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.595-4066G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47543367 | |||||||
| chr16:47543743 | C | T | 1 | a0002c0002t0002g0036 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.595-3690C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47543743 | |||||||
| chr16:47543757 | A | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.595-3676A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47543757 | |||||||
| chr16:47544038 | G | A | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.595-3395G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47544038 | |||||||
| chr16:47544226 | G | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-3207G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47544226 | |||||||
| chr16:47544424 | A | G | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.595-3009A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47544424 | |||||||
| chr16:47544744 | A | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-2689A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47544744 | |||||||
| chr16:47545396 | T | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-2037T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545396 | |||||||
| chr16:47545501 | C | T | 32 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.595-1932C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545501 | |||||||
| chr16:47545548 | G | A | 1 | a0001c0001t0003g0022 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.595-1885G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545548 | |||||||
| chr16:47545568 | G | C | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.595-1865G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545568 | |||||||
| chr16:47545724 | C | T | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.595-1709C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545724 | |||||||
| chr16:47545815 | C | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-1618C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545815 | |||||||
| chr16:47545909 | C | T | 1 | a0001c0001t0001g0087 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.595-1524C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545909 | |||||||
| chr16:47545971 | T | G | 16 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG00280.hp1 HG01074.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.595-1462T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47545971 | |||||||
| chr16:47546148 | A | C | 1 | a0001c0001t0003g0022 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.595-1285A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546148 | |||||||
| chr16:47546170 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.595-1263C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546170 | |||||||
| chr16:47546264 | T | A | 3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.595-1169T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546264 | |||||||
| chr16:47546452 | C | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.595-981C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546452 | |||||||
| chr16:47546555 | T | C | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.595-878T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546555 | |||||||
| chr16:47546697 | A | T | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.595-736A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546697 | |||||||
| chr16:47546830 | C | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.595-603C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546830 | |||||||
| chr16:47546857 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.595-576C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47546857 | |||||||
| chr16:47547120 | C | T | 1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.595-313C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47547120 | |||||||
| chr16:47547158 | G | T | 3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.595-275G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 6/30 | chr16 | 47547158 | |||||||
| chr16:47547766 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+218C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47547766 | |||||||
| chr16:47547837 | C | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.710+289C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47547837 | |||||||
| chr16:47547907 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.710+359A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47547907 | |||||||
| chr16:47547974 | C | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.710+426C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47547974 | |||||||
| chr16:47548056 | C | T | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.710+508C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47548056 | |||||||
| chr16:47548203 | A | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.710+655A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47548203 | |||||||
| chr16:47548319 | A | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+771A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47548319 | |||||||
| chr16:47548583 | G | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.710+1035G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47548583 | |||||||
| chr16:47548606 | CA | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.710+1074delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47548606 | ||||||
| chr16:47548832 | T | A | 3 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 |
4 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.710+1284T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47548832 | |||||||
| chr16:47549010 | C | G | 1 | a0001c0001t0001g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.710+1462C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47549010 | |||||||
| chr16:47549231 | A | T | 2 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.710+1683A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47549231 | |||||||
| chr16:47549279 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+1731T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47549279 | |||||||
| chr16:47549456 | G | A | 1 | a0001c0001t0002g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.710+1908G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47549456 | |||||||
| chr16:47549961 | A | G | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.710+2413A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47549961 | |||||||
| chr16:47550145 | C | A | 2 | a0001c0001t0001g0058 a0001c0001t0001g0089 |
2 | HG00438.hp1 HG00438.hp2 |
intron_variant | MODIFIER | c.710+2597C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47550145 | |||||||
| chr16:47550305 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.710+2757C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47550305 | |||||||
| chr16:47550568 | T | C | 1 | a0001c0001t0001g0075 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.710+3020T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47550568 | |||||||
| chr16:47551945 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.710+4397T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47551945 | |||||||
| chr16:47552242 | T | C | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.710+4694T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47552242 | |||||||
| chr16:47552368 | T | A | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.710+4820T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47552368 | |||||||
| chr16:47552410 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+4862T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47552410 | |||||||
| chr16:47552488 | G | T | 1 | a0003c0010t0006g0011 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.710+4940G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47552488 | |||||||
| chr16:47552687 | T | C | 1 | a0002c0002t0002g0036 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.710+5139T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47552687 | |||||||
| chr16:47552800 | A | AAC | 9 | a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0075 others(6): Show |
9 | HG02109.hp2 HG02280.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.710+5283_710+5284d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47552800 | ||||||
| chr16:47552800 | AAC | A | 32 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.710+5283_710+5284d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47552800 | ||||||
| chr16:47553339 | G | C | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.710+5791G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47553339 | |||||||
| chr16:47553339 | G | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.710+5791G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47553339 | |||||||
| chr16:47553449 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.710+5901A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47553449 | |||||||
| chr16:47553551 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+6003A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47553551 | |||||||
| chr16:47553870 | A | T | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.710+6322A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47553870 | |||||||
| chr16:47554554 | C | T | 1 | a0001c0001t0005g0069 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.710+7006C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47554554 | |||||||
| chr16:47554808 | C | T | 1 | a0002c0002t0002g0030 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.710+7260C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47554808 | |||||||
| chr16:47554810 | C | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+7262C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47554810 | |||||||
| chr16:47555187 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.710+7639A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47555187 | |||||||
| chr16:47555991 | G | C | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.710+8443G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47555991 | |||||||
| chr16:47556152 | C | T | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.710+8604C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556152 | |||||||
| chr16:47556387 | A | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.710+8839A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556387 | |||||||
| chr16:47556437 | T | C | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.710+8889T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556437 | |||||||
| chr16:47556450 | C | T | 2 | a0001c0001t0001g0058 a0001c0001t0001g0089 |
2 | HG00438.hp1 HG00438.hp2 |
intron_variant | MODIFIER | c.710+8902C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556450 | |||||||
| chr16:47556480 | C | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.710+8932C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556480 | |||||||
| chr16:47556541 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.710+8993C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556541 | |||||||
| chr16:47556639 | A | G | 3 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 |
3 | HG00735.hp1 HG01074.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.710+9091A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556639 | |||||||
| chr16:47556879 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+9331G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556879 | |||||||
| chr16:47556983 | G | C | 1 | a0002c0002t0002g0042 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.710+9435G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47556983 | |||||||
| chr16:47557078 | G | A | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.710+9530G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47557078 | |||||||
| chr16:47557153 | A | G | 3 | a0001c0001t0001g0092 a0001c0001t0005g0068 a0001c0001t0005g0069 |
3 | HG00735.hp2 HG01255.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.710+9605A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47557153 | |||||||
| chr16:47557261 | A | C | 22 | a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0062 others(19): Show |
23 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(20): Show |
intron_variant | MODIFIER | c.710+9713A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47557261 | |||||||
| chr16:47557296 | G | A | 3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.710+9748G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47557296 | |||||||
| chr16:47557388 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.710+9840C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47557388 | |||||||
| chr16:47557679 | G | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.710+10131G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47557679 | |||||||
| chr16:47558348 | G | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.710+10800G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47558348 | |||||||
| chr16:47559436 | G | T | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.710+11888G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47559436 | |||||||
| chr16:47559663 | T | C | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.710+12115T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47559663 | |||||||
| chr16:47559695 | G | T | 6 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0070 others(3): Show |
6 | HG02886.hp1 HG03098.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.710+12147G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47559695 | |||||||
| chr16:47559934 | T | C | 1 | a0001c0001t0005g0068 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.710+12386T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47559934 | |||||||
| chr16:47560045 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+12497T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47560045 | |||||||
| chr16:47560511 | C | A | 1 | a0002c0002t0002g0042 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.710+12963C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47560511 | |||||||
| chr16:47560533 | A | G | 1 | a0001c0001t0001g0009 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.710+12985A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47560533 | |||||||
| chr16:47560672 | T | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.710+13124T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47560672 | |||||||
| chr16:47560692 | C | G | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.710+13144C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47560692 | |||||||
| chr16:47560733 | A | AT | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.710+13188dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47560733 | ||||||
| chr16:47561094 | A | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.710+13546A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47561094 | |||||||
| chr16:47561189 | G | A | 16 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG00280.hp1 HG01074.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.710+13641G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47561189 | |||||||
| chr16:47561413 | G | T | 1 | a0001c0001t0003g0019 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.710+13865G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47561413 | |||||||
| chr16:47562426 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.710+14878A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47562426 | |||||||
| chr16:47562453 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.710+14905G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47562453 | |||||||
| chr16:47562681 | C | G | 4 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 others(1): Show |
4 | HG01496.hp2 HG02109.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.710+15133C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47562681 | |||||||
| chr16:47562688 | A | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.710+15140A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47562688 | |||||||
| chr16:47563574 | G | A | 34 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(31): Show |
35 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.710+16026G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47563574 | |||||||
| chr16:47563583 | G | T | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.710+16035G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47563583 | |||||||
| chr16:47563994 | C | CT | 13 | a0001c0001t0001g0065 a0001c0001t0002g0001 a0001c0001t0002g0023 others(10): Show |
14 | HG00735.hp2 HG01255.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.711-16281dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47563994 | ||||||
| chr16:47564459 | G | A | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.711-15836G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47564459 | |||||||
| chr16:47564947 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.711-15348G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47564947 | |||||||
| chr16:47564970 | T | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.711-15325T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47564970 | |||||||
| chr16:47564971 | T | C | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.711-15324T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47564971 | |||||||
| chr16:47565063 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-15232A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47565063 | |||||||
| chr16:47565996 | G | A | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.711-14299G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47565996 | |||||||
| chr16:47566217 | C | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.711-14078C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47566217 | |||||||
| chr16:47566382 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-13913T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47566382 | |||||||
| chr16:47566565 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.711-13730T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47566565 | |||||||
| chr16:47566880 | T | C | 4 | a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0076 others(1): Show |
5 | HG02559.hp2 HG02976.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.711-13415T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47566880 | |||||||
| chr16:47567338 | T | A | 7 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(4): Show |
8 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.711-12957T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47567338 | |||||||
| chr16:47567427 | G | A | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.711-12868G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47567427 | |||||||
| chr16:47567625 | C | T | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.711-12670C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47567625 | |||||||
| chr16:47567928 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-12367G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47567928 | |||||||
| chr16:47568040 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.711-12255G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47568040 | |||||||
| chr16:47568223 | C | G | 9 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(6): Show |
10 | HG01496.hp2 HG01884.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.711-12072C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47568223 | |||||||
| chr16:47569874 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.711-10421C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47569874 | |||||||
| chr16:47570972 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.711-9323G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47570972 | |||||||
| chr16:47571170 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-9125A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47571170 | |||||||
| chr16:47571500 | C | T | 41 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(38): Show |
42 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.711-8795C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47571500 | |||||||
| chr16:47571870 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-8425G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47571870 | |||||||
| chr16:47571943 | G | A | 38 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(35): Show |
39 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.711-8352G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47571943 | |||||||
| chr16:47572673 | T | A | 1 | a0001c0001t0001g0074 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.711-7622T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47572673 | |||||||
| chr16:47573398 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.711-6897T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47573398 | |||||||
| chr16:47573922 | A | AT | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.711-6364dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47573922 | ||||||
| chr16:47573946 | G | A | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.711-6349G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47573946 | |||||||
| chr16:47574336 | G | C | 79 | a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0057 others(76): Show |
81 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(78): Show |
intron_variant | MODIFIER | c.711-5959G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47574336 | |||||||
| chr16:47574658 | G | A | 1 | a0001c0001t0005g0069 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.711-5637G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47574658 | |||||||
| chr16:47574702 | C | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.711-5593C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47574702 | |||||||
| chr16:47574922 | C | G | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.711-5373C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47574922 | |||||||
| chr16:47575210 | G | A | 1 | a0001c0001t0004g0053 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.711-5085G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47575210 | |||||||
| chr16:47575402 | A | G | 1 | a0008c0008t0002g0046 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.711-4893A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47575402 | |||||||
| chr16:47575920 | T | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.711-4375T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47575920 | |||||||
| chr16:47576042 | C | T | 1 | a0001c0001t0001g0077 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.711-4253C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47576042 | |||||||
| chr16:47576078 | A | AAAAACAA others(3): Show |
1 | a0001c0001t0002g0027 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.711-4204_711-4195d others(12): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47576078 | ||||||
| chr16:47576836 | A | G | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.711-3459A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47576836 | |||||||
| chr16:47577175 | A | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-3120A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47577175 | |||||||
| chr16:47577628 | T | TA | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-2666dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | 47577628 | ||||||
| chr16:47577853 | G | A | 3 | a0002c0002t0002g0034 a0002c0002t0002g0043 a0002c0002t0010g0035 |
3 | HG01109.hp1 HG02630.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.711-2442G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47577853 | |||||||
| chr16:47577995 | G | C | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.711-2300G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47577995 | |||||||
| chr16:47578051 | G | A | 3 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0088 |
3 | HG01261.hp1 HG01361.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.711-2244G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47578051 | |||||||
| chr16:47578200 | G | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.711-2095G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47578200 | |||||||
| chr16:47578388 | G | A | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.711-1907G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47578388 | |||||||
| chr16:47578482 | G | A | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.711-1813G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47578482 | |||||||
| chr16:47579073 | A | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.711-1222A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47579073 | |||||||
| chr16:47579107 | G | A | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.711-1188G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47579107 | |||||||
| chr16:47579653 | C | G | 1 | a0004c0004t0004g0055 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.711-642C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47579653 | |||||||
| chr16:47579828 | G | A | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.711-467G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 7/30 | chr16 | 47579828 | |||||||
| chr16:47580528 | T | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.774+170T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47580528 | |||||||
| chr16:47580558 | TA | T | 13 | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 others(10): Show |
13 | HG01261.hp1 HG01361.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.774+217delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr16 | 47580558 | ||||||
| chr16:47580732 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.774+374G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47580732 | |||||||
| chr16:47580741 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.774+383T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47580741 | |||||||
| chr16:47580801 | G | T | 7 | a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 others(4): Show |
7 | HG01891.hp1 HG02258.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.774+443G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47580801 | |||||||
| chr16:47581021 | A | T | 2 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | HG03831.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.774+663A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47581021 | |||||||
| chr16:47581211 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.774+853C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47581211 | |||||||
| chr16:47581470 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.774+1112G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47581470 | |||||||
| chr16:47581613 | T | A | 1 | a0001c0001t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.774+1255T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47581613 | |||||||
| chr16:47581824 | C | T | 1 | a0002c0002t0002g0045 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.774+1466C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47581824 | |||||||
| chr16:47581856 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.774+1498T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47581856 | |||||||
| chr16:47582162 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.774+1804A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47582162 | |||||||
| chr16:47582254 | G | A | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.774+1896G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47582254 | |||||||
| chr16:47583558 | TTTAACTA others(2): Show |
T | 3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.774+3205_774+3213d others(11): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr16 | 47583558 | ||||||
| chr16:47583570 | A | C | 3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.774+3212A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47583570 | |||||||
| chr16:47583571 | A | AT | 41 | a0001c0001t0001g0063 a0001c0001t0002g0001 a0001c0001t0002g0023 others(38): Show |
42 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.774+3215dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr16 | 47583571 | ||||||
| chr16:47583626 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.774+3268G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47583626 | |||||||
| chr16:47583707 | A | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.774+3349A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47583707 | |||||||
| chr16:47583900 | G | A | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.774+3542G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47583900 | |||||||
| chr16:47585209 | G | A | 3 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0005c0007t0011g0096 |
3 | HG02109.hp2 HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.775-2459G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47585209 | |||||||
| chr16:47585340 | C | T | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.775-2328C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47585340 | |||||||
| chr16:47585417 | A | C | 3 | a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 |
3 | HG02622.hp1 HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.775-2251A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47585417 | |||||||
| chr16:47585705 | A | G | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.775-1963A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47585705 | |||||||
| chr16:47586252 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.775-1416T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47586252 | |||||||
| chr16:47586820 | A | G | 36 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(33): Show |
37 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.775-848A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47586820 | |||||||
| chr16:47586885 | G | A | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.775-783G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47586885 | |||||||
| chr16:47587203 | T | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.775-465T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47587203 | |||||||
| chr16:47587662 | G | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
splice_region_variant&intron_variant | LOW | c.775-6G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | chr16 | 47587662 | |||||||
| chr16:47587780 | T | C | 2 | a0001c0001t0002g0001 a0001c0001t0002g0027 |
3 | HG02055.hp2 HG02109.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.870+17T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 9/30 | chr16 | 47587780 | |||||||
| chr16:47587966 | G | A | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.870+203G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 9/30 | chr16 | 47587966 | |||||||
| chr16:47588243 | A | G | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.870+480A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 9/30 | chr16 | 47588243 | |||||||
| chr16:47588278 | T | C | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.870+515T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 9/30 | chr16 | 47588278 | |||||||
| chr16:47588280 | A | T | 2 | a0001c0001t0001g0063 a0001c0001t0002g0064 |
2 | HG01891.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.870+517A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 9/30 | chr16 | 47588280 | |||||||
| chr16:47588847 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.871-58G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 9/30 | chr16 | 47588847 | |||||||
| chr16:47589447 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1068+345C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47589447 | |||||||
| chr16:47589659 | C | T | 4 | a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 others(1): Show |
4 | HG01891.hp1 HG02258.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1068+557C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47589659 | |||||||
| chr16:47590282 | C | CT | 33 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(30): Show |
34 | HG00735.hp1 HG01074.hp2 HG01255.hp1 others(31): Show |
intron_variant | MODIFIER | c.1068+1197dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | 47590282 | ||||||
| chr16:47590400 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1068+1298A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47590400 | |||||||
| chr16:47590442 | A | G | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1068+1340A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47590442 | |||||||
| chr16:47590653 | A | ACTTTGGA others(21): Show |
2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1068+1579_1068+160 others(32): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | 47590653 | ||||||
| chr16:47590786 | G | T | 1 | a0001c0001t0001g0007 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1068+1684G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47590786 | |||||||
| chr16:47591072 | C | A | 3 | a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0091 |
3 | HG02886.hp1 HG03098.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1068+1970C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47591072 | |||||||
| chr16:47591184 | G | A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1068+2082G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47591184 | |||||||
| chr16:47591312 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1069-2188C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47591312 | |||||||
| chr16:47591404 | A | G | 1 | a0001c0001t0002g0027 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1069-2096A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47591404 | |||||||
| chr16:47592328 | A | T | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1069-1172A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47592328 | |||||||
| chr16:47592836 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1069-664T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47592836 | |||||||
| chr16:47592864 | A | G | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1069-636A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47592864 | |||||||
| chr16:47593170 | GGA | G | 6 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(3): Show |
6 | HG01074.hp1 HG01109.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1069-316_1069-315d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | 47593170 | ||||||
| chr16:47593227 | AGGAG | A | 2 | a0001c0001t0004g0054 a0001c0005t0007g0081 |
2 | HG02818.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.1069-255_1069-252d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | 47593227 | ||||||
| chr16:47593247 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1069-253G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47593247 | |||||||
| chr16:47593263 | A | AAG | 27 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0002c0002t0002g0028 others(24): Show |
27 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.1069-225_1069-224d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | 47593263 | ||||||
| chr16:47593340 | G | T | 3 | a0001c0001t0001g0092 a0001c0001t0005g0068 a0001c0001t0005g0069 |
3 | HG00735.hp2 HG01255.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1069-160G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47593340 | |||||||
| chr16:47593478 | A | C | 2 | a0001c0001t0002g0001 a0001c0001t0002g0027 |
3 | HG02055.hp2 HG02109.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.1069-22A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | chr16 | 47593478 | |||||||
| chr16:47593571 | T | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1126+14T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 11/30 | chr16 | 47593571 | |||||||
| chr16:47593691 | T | C | 1 | a0002c0002t0002g0034 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1126+134T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 11/30 | chr16 | 47593691 | |||||||
| chr16:47593706 | A | G | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1126+149A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 11/30 | chr16 | 47593706 | |||||||
| chr16:47594504 | A | C | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1204+290A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 12/30 | chr16 | 47594504 | |||||||
| chr16:47595059 | A | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1204+845A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 12/30 | chr16 | 47595059 | |||||||
| chr16:47596144 | GT | G | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1205-225delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr16 | 47596144 | ||||||
| chr16:47596628 | T | C | 6 | a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0073 others(3): Show |
6 | HG00438.hp1 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.1363+97T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47596628 | |||||||
| chr16:47597206 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1363+675A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47597206 | |||||||
| chr16:47597370 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1363+839G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47597370 | |||||||
| chr16:47597668 | T | C | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1363+1137T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47597668 | |||||||
| chr16:47597678 | C | CT | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1363+1166dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47597678 | ||||||
| chr16:47597678 | CT | C | 13 | a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0083 others(10): Show |
14 | HG01884.hp1 HG02109.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.1363+1166delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47597678 | ||||||
| chr16:47597904 | G | A | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1363+1373G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47597904 | |||||||
| chr16:47597928 | T | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1363+1397T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47597928 | |||||||
| chr16:47598185 | A | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1363+1654A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47598185 | |||||||
| chr16:47598254 | A | G | 3 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 |
4 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.1363+1723A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47598254 | |||||||
| chr16:47598742 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1363+2211G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47598742 | |||||||
| chr16:47598973 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1363+2442G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47598973 | |||||||
| chr16:47599337 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1363+2806T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47599337 | |||||||
| chr16:47600603 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1363+4072G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47600603 | |||||||
| chr16:47600708 | A | G | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1363+4177A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47600708 | |||||||
| chr16:47600780 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1363+4249C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47600780 | |||||||
| chr16:47600983 | G | A | 1 | a0002c0002t0002g0044 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1363+4452G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47600983 | |||||||
| chr16:47601378 | T | C | 38 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(35): Show |
39 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.1363+4847T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47601378 | |||||||
| chr16:47601471 | C | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1363+4940C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47601471 | |||||||
| chr16:47601620 | G | A | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1363+5089G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47601620 | |||||||
| chr16:47601704 | C | CA | 5 | a0001c0001t0001g0007 a0001c0001t0003g0019 a0001c0001t0003g0020 others(2): Show |
5 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1363+5187dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47601704 | ||||||
| chr16:47601857 | A | G | 1 | a0001c0001t0001g0092 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1363+5326A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47601857 | |||||||
| chr16:47602302 | G | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1363+5771G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47602302 | |||||||
| chr16:47602405 | G | A | 1 | a0001c0001t0001g0006 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1363+5874G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47602405 | |||||||
| chr16:47602542 | CT | C | 28 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0087 others(25): Show |
28 | HG00280.hp1 HG00735.hp1 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.1363+6031delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47602542 | ||||||
| chr16:47602745 | G | C | 20 | a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0062 others(17): Show |
21 | HG00280.hp2 HG00438.hp1 HG01261.hp1 others(18): Show |
intron_variant | MODIFIER | c.1363+6214G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47602745 | |||||||
| chr16:47603094 | A | G | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1363+6563A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603094 | |||||||
| chr16:47603163 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1363+6632G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603163 | |||||||
| chr16:47603472 | TC | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1363+6942delC | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603472 | |||||||
| chr16:47603503 | CT | C | 8 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0070 others(5): Show |
8 | HG00438.hp2 HG02886.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1363+6989delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47603503 | ||||||
| chr16:47603562 | G | A | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1363+7031G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603562 | |||||||
| chr16:47603671 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1363+7140T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603671 | |||||||
| chr16:47603711 | C | T | 1 | a0001c0001t0001g0063 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1364-7115C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603711 | |||||||
| chr16:47603721 | T | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1364-7105T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603721 | |||||||
| chr16:47603743 | A | T | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1364-7083A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47603743 | |||||||
| chr16:47604011 | G | A | 1 | a0002c0002t0002g0045 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1364-6815G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604011 | |||||||
| chr16:47604115 | C | G | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1364-6711C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604115 | |||||||
| chr16:47604350 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1364-6476A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604350 | |||||||
| chr16:47604440 | CAT | C | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG01884.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1364-6385_1364-638 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604440 | |||||||
| chr16:47604600 | T | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1364-6226T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604600 | |||||||
| chr16:47604692 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1364-6134G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604692 | |||||||
| chr16:47604723 | C | T | 16 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(13): Show |
16 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1364-6103C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47604723 | |||||||
| chr16:47605443 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1364-5383G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47605443 | |||||||
| chr16:47605535 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1364-5291C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47605535 | |||||||
| chr16:47605781 | G | A | 3 | a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0040 |
3 | HG02895.hp1 HG02897.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1364-5045G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47605781 | |||||||
| chr16:47606312 | A | G | 1 | a0003c0010t0006g0011 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1364-4514A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47606312 | |||||||
| chr16:47606526 | C | T | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1364-4300C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47606526 | |||||||
| chr16:47606559 | T | G | 1 | a0001c0001t0001g0089 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1364-4267T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47606559 | |||||||
| chr16:47606760 | A | G | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1364-4066A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47606760 | |||||||
| chr16:47606892 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1364-3934T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47606892 | |||||||
| chr16:47607213 | G | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1364-3613G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47607213 | |||||||
| chr16:47607772 | G | A | 1 | a0001c0001t0002g0064 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1364-3054G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47607772 | |||||||
| chr16:47607987 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1364-2839A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47607987 | |||||||
| chr16:47608027 | T | G | 39 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(36): Show |
40 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(37): Show |
intron_variant | MODIFIER | c.1364-2799T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47608027 | |||||||
| chr16:47608652 | C | A | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1364-2174C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47608652 | |||||||
| chr16:47608652 | C | T | 1 | a0002c0002t0002g0029 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1364-2174C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47608652 | |||||||
| chr16:47609152 | A | G | 1 | a0001c0005t0007g0081 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1364-1674A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47609152 | |||||||
| chr16:47609428 | C | CT | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1364-1392dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609428 | ||||||
| chr16:47609440 | TG | T | 20 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0001 others(17): Show |
21 | HG01496.hp2 HG01884.hp1 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.1364-1376delG | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609440 | ||||||
| chr16:47609440 | TGG | T | 19 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(16): Show |
19 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.1364-1377_1364-137 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609440 | ||||||
| chr16:47609515 | C | T | 1 | a0001c0005t0007g0081 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1364-1311C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47609515 | |||||||
| chr16:47609549 | GTGTT | G | 2 | a0001c0001t0001g0086 a0001c0001t0001g0091 |
2 | HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1364-1273_1364-127 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609549 | ||||||
| chr16:47609553 | T | TTG | 6 | a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0002g0064 others(3): Show |
6 | HG01891.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1364-1249_1364-124 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609553 | ||||||
| chr16:47609553 | TTG | T | 35 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0026 others(32): Show |
36 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.1364-1249_1364-124 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609553 | ||||||
| chr16:47609553 | TTGTG | T | 3 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0005c0007t0011g0096 |
3 | HG01884.hp1 HG02109.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1364-1251_1364-124 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47609553 | ||||||
| chr16:47610092 | A | G | 1 | a0002c0002t0002g0036 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1364-734A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47610092 | |||||||
| chr16:47610159 | A | AT | 59 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(56): Show |
61 | HG00280.hp1 HG00280.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.1364-644dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47610159 | ||||||
| chr16:47610159 | A | ATT | 13 | a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0070 others(10): Show |
13 | HG00438.hp1 HG02055.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.1364-645_1364-644d others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47610159 | ||||||
| chr16:47610159 | A | ATTT | 5 | a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0002g0064 others(2): Show |
5 | HG00438.hp2 HG01891.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1364-646_1364-644d others(5): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr16 | 47610159 | ||||||
| chr16:47610374 | T | A | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1364-452T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 13/30 | chr16 | 47610374 | |||||||
| chr16:47611161 | T | C | 1 | a0002c0002t0002g0029 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1458+241T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47611161 | |||||||
| chr16:47611236 | T | C | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1458+316T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47611236 | |||||||
| chr16:47611330 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+410C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47611330 | |||||||
| chr16:47612513 | G | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1458+1593G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47612513 | |||||||
| chr16:47613333 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1458+2413T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47613333 | |||||||
| chr16:47613473 | G | C | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1458+2553G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47613473 | |||||||
| chr16:47613507 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+2587T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47613507 | |||||||
| chr16:47613778 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1458+2858C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47613778 | |||||||
| chr16:47616067 | A | G | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1458+5147A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47616067 | |||||||
| chr16:47616482 | T | TAATATAT others(26): Show |
2 | a0001c0001t0005g0068 a0001c0001t0005g0069 |
2 | HG00735.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.1458+5574_1458+560 others(37): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47616482 | ||||||
| chr16:47616541 | T | C | 1 | a0001c0001t0001g0087 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1458+5621T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47616541 | |||||||
| chr16:47616548 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1458+5628A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47616548 | |||||||
| chr16:47616564 | T | TATATTTT others(28): Show |
1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1458+5679_1458+571 others(39): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47616564 | ||||||
| chr16:47616567 | AT | A | 2 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1458+5651delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47616567 | ||||||
| chr16:47616599 | A | AATATTTT others(63): Show |
2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1458+5748_1458+574 others(74): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47616599 | ||||||
| chr16:47616864 | T | C | 2 | a0002c0002t0002g0034 a0002c0002t0002g0043 |
2 | HG01109.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1458+5944T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47616864 | |||||||
| chr16:47616996 | G | A | 1 | a0002c0002t0002g0039 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1458+6076G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47616996 | |||||||
| chr16:47617121 | G | A | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1458+6201G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47617121 | |||||||
| chr16:47617344 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1458+6424A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47617344 | |||||||
| chr16:47617570 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1458+6650T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47617570 | |||||||
| chr16:47617929 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1458+7009A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47617929 | |||||||
| chr16:47618222 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+7302A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47618222 | |||||||
| chr16:47618669 | G | C | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.1458+7749G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47618669 | |||||||
| chr16:47619210 | C | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1458+8290C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47619210 | |||||||
| chr16:47619262 | G | T | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1458+8342G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47619262 | |||||||
| chr16:47620743 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+9823G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47620743 | |||||||
| chr16:47620889 | AT | A | 11 | a0001c0001t0002g0064 a0001c0001t0002g0093 a0001c0001t0002g0094 others(8): Show |
11 | HG01496.hp2 HG01891.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.1458+9970delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47620889 | |||||||
| chr16:47620890 | T | A | 32 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(29): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.1458+9970T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47620890 | |||||||
| chr16:47620925 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+10005G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47620925 | |||||||
| chr16:47622261 | T | G | 4 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(1): Show |
4 | HG01074.hp1 HG01109.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+11341T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47622261 | |||||||
| chr16:47622633 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+11713C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47622633 | |||||||
| chr16:47622819 | T | C | 1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1458+11899T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47622819 | |||||||
| chr16:47622904 | A | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1458+11984A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47622904 | |||||||
| chr16:47623140 | C | G | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1458+12220C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47623140 | |||||||
| chr16:47623486 | G | GT | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+12579dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47623486 | ||||||
| chr16:47623486 | GT | G | 33 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(30): Show |
33 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.1458+12579delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47623486 | ||||||
| chr16:47623557 | A | AT | 5 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(2): Show |
5 | HG01109.hp2 HG02897.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.1458+12658dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47623557 | ||||||
| chr16:47623557 | AT | A | 34 | a0001c0001t0001g0063 a0001c0001t0002g0001 a0001c0001t0002g0023 others(31): Show |
35 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.1458+12658delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47623557 | ||||||
| chr16:47623704 | C | T | 4 | a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0083 others(1): Show |
4 | HG03017.hp1 HG03491.hp2 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.1458+12784C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47623704 | |||||||
| chr16:47623804 | C | T | 3 | a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0091 |
3 | HG02886.hp1 HG03098.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1458+12884C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47623804 | |||||||
| chr16:47624282 | A | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1458+13362A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47624282 | |||||||
| chr16:47624289 | G | C | 1 | a0002c0002t0002g0028 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1458+13369G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47624289 | |||||||
| chr16:47624788 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1458+13868C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47624788 | |||||||
| chr16:47625109 | C | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1458+14189C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47625109 | |||||||
| chr16:47626110 | C | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1459-14925C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47626110 | |||||||
| chr16:47626123 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1459-14912T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47626123 | |||||||
| chr16:47626324 | G | C | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1459-14711G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47626324 | |||||||
| chr16:47626338 | A | C | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1459-14697A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47626338 | |||||||
| chr16:47626985 | T | C | 1 | a0002c0002t0002g0047 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1459-14050T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47626985 | |||||||
| chr16:47627620 | C | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1459-13415C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47627620 | |||||||
| chr16:47627960 | G | T | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1459-13075G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47627960 | |||||||
| chr16:47628259 | G | A | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1459-12776G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47628259 | |||||||
| chr16:47628546 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1459-12489A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47628546 | |||||||
| chr16:47628684 | C | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1459-12351C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47628684 | |||||||
| chr16:47629465 | C | T | 1 | a0001c0001t0001g0067 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1459-11570C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47629465 | |||||||
| chr16:47629500 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1459-11535T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47629500 | |||||||
| chr16:47629568 | T | C | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1459-11467T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47629568 | |||||||
| chr16:47630177 | A | T | 2 | a0002c0002t0002g0031 a0002c0002t0002g0032 |
2 | HG02723.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1459-10858A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47630177 | |||||||
| chr16:47630565 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1459-10470G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47630565 | |||||||
| chr16:47630681 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1459-10354G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47630681 | |||||||
| chr16:47631213 | G | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1459-9822G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47631213 | |||||||
| chr16:47631237 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1459-9798T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47631237 | |||||||
| chr16:47631669 | C | T | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1459-9366C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47631669 | |||||||
| chr16:47631838 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1459-9197G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47631838 | |||||||
| chr16:47631953 | T | G | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1459-9082T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47631953 | |||||||
| chr16:47633080 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1459-7955C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47633080 | |||||||
| chr16:47633483 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1459-7552G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47633483 | |||||||
| chr16:47633484 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1459-7551C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47633484 | |||||||
| chr16:47633612 | G | A | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1459-7423G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47633612 | |||||||
| chr16:47633964 | C | T | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1459-7071C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47633964 | |||||||
| chr16:47635180 | T | C | 1 | a0002c0002t0002g0030 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1459-5855T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47635180 | |||||||
| chr16:47635762 | G | T | 20 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1459-5273G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47635762 | |||||||
| chr16:47636315 | C | A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1459-4720C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47636315 | |||||||
| chr16:47636875 | G | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1459-4160G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47636875 | |||||||
| chr16:47637260 | C | G | 1 | a0001c0001t0001g0077 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1459-3775C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47637260 | |||||||
| chr16:47637384 | C | T | 1 | a0001c0001t0001g0058 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1459-3651C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47637384 | |||||||
| chr16:47637537 | C | T | 1 | a0002c0002t0002g0036 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1459-3498C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47637537 | |||||||
| chr16:47637707 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1459-3328A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47637707 | |||||||
| chr16:47637953 | G | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1459-3082G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47637953 | |||||||
| chr16:47638568 | T | A | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.1459-2467T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47638568 | |||||||
| chr16:47638636 | C | G | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1459-2399C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47638636 | |||||||
| chr16:47639281 | G | GAAAC | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1459-1734_1459-173 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | 47639281 | ||||||
| chr16:47639399 | G | A | 20 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1459-1636G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47639399 | |||||||
| chr16:47640078 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1459-957C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47640078 | |||||||
| chr16:47640398 | G | A | 1 | a0001c0001t0001g0010 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1459-637G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47640398 | |||||||
| chr16:47640507 | A | G | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1459-528A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47640507 | |||||||
| chr16:47640910 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1459-125C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47640910 | |||||||
| chr16:47641026 | G | T | 1 | a0001c0001t0001g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1459-9G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 14/30 | chr16 | 47641026 | |||||||
| chr16:47641873 | T | G | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1608+181T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47641873 | |||||||
| chr16:47641956 | AT | A | 2 | a0002c0002t0002g0042 a0002c0002t0002g0051 |
2 | HG02717.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1608+266delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr16 | 47641956 | ||||||
| chr16:47642046 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1608+354C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642046 | |||||||
| chr16:47642224 | G | A | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1608+532G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642224 | |||||||
| chr16:47642494 | G | T | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1608+802G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642494 | |||||||
| chr16:47642539 | C | G | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1608+847C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642539 | |||||||
| chr16:47642746 | G | A | 1 | a0001c0001t0001g0086 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1608+1054G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642746 | |||||||
| chr16:47642747 | A | T | 1 | a0001c0001t0001g0086 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1608+1055A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642747 | |||||||
| chr16:47642933 | A | G | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1608+1241A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47642933 | |||||||
| chr16:47643627 | A | G | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1608+1935A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47643627 | |||||||
| chr16:47644120 | G | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1608+2428G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47644120 | |||||||
| chr16:47645495 | C | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1609-3038C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47645495 | |||||||
| chr16:47645532 | G | A | 1 | a0001c0001t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1609-3001G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47645532 | |||||||
| chr16:47645680 | T | C | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1609-2853T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47645680 | |||||||
| chr16:47645823 | C | T | 1 | a0001c0001t0001g0077 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1609-2710C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47645823 | |||||||
| chr16:47646274 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1609-2259G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47646274 | |||||||
| chr16:47646301 | A | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1609-2232A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47646301 | |||||||
| chr16:47646363 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1609-2170C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47646363 | |||||||
| chr16:47646530 | T | TA | 4 | a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0026 others(1): Show |
5 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.1609-1989dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr16 | 47646530 | ||||||
| chr16:47646530 | TA | T | 6 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0003g0022 others(3): Show |
6 | HG01496.hp2 HG02280.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1609-1989delA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr16 | 47646530 | ||||||
| chr16:47646533 | A | T | 2 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1609-2000A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47646533 | |||||||
| chr16:47646572 | T | TA | 11 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(8): Show |
12 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1609-1949dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr16 | 47646572 | ||||||
| chr16:47646572 | T | TAA | 26 | a0001c0001t0002g0095 a0002c0002t0002g0028 a0002c0002t0002g0029 others(23): Show |
26 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.1609-1950_1609-194 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr16 | 47646572 | ||||||
| chr16:47646687 | T | C | 1 | a0001c0001t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1609-1846T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47646687 | |||||||
| chr16:47646927 | A | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1609-1606A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47646927 | |||||||
| chr16:47647002 | C | T | 3 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 |
4 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.1609-1531C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647002 | |||||||
| chr16:47647095 | T | TTTTA | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1609-1424_1609-142 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr16 | 47647095 | ||||||
| chr16:47647113 | G | T | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1609-1420G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647113 | |||||||
| chr16:47647163 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1609-1370G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647163 | |||||||
| chr16:47647308 | G | A | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1609-1225G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647308 | |||||||
| chr16:47647314 | G | A | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1609-1219G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647314 | |||||||
| chr16:47647521 | G | A | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1609-1012G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647521 | |||||||
| chr16:47647695 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1609-838C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47647695 | |||||||
| chr16:47648170 | G | C | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1609-363G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47648170 | |||||||
| chr16:47648291 | G | A | 1 | a0001c0001t0008g0012 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1609-242G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47648291 | |||||||
| chr16:47648419 | G | A | 1 | a0001c0001t0001g0006 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1609-114G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 16/30 | chr16 | 47648419 | |||||||
| chr16:47649012 | G | C | 1 | a0001c0001t0005g0068 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1693-88G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 17/30 | chr16 | 47649012 | |||||||
| chr16:47649394 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1797+190C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | chr16 | 47649394 | |||||||
| chr16:47649438 | A | G | 3 | a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0083 |
3 | HG03017.hp1 HG03491.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1797+234A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | chr16 | 47649438 | |||||||
| chr16:47649709 | AGCT | A | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1797+507_1797+509d others(5): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr16 | 47649709 | ||||||
| chr16:47649922 | C | CAGAT | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1798-604_1798-601d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr16 | 47649922 | ||||||
| chr16:47649926 | T | C | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1798-618T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | chr16 | 47649926 | |||||||
| chr16:47650094 | CTTGAACT others(5): Show |
C | 1 | a0002c0002t0002g0052 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1798-446_1798-435d others(14): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr16 | 47650094 | ||||||
| chr16:47650120 | T | A | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1798-424T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | chr16 | 47650120 | |||||||
| chr16:47650137 | T | C | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1798-407T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | chr16 | 47650137 | |||||||
| chr16:47650679 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1880+53G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 19/30 | chr16 | 47650679 | |||||||
| chr16:47650775 | TATTA | T | 21 | a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0065 others(18): Show |
22 | HG00438.hp2 HG01261.hp1 HG01261.hp2 others(19): Show |
intron_variant | MODIFIER | c.1881-52_1881-49del others(4): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr16 | 47650775 | ||||||
| chr16:47651236 | T | C | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1971+315T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47651236 | |||||||
| chr16:47651750 | C | T | 1 | a0002c0002t0002g0041 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1971+829C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47651750 | |||||||
| chr16:47651817 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1971+896T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47651817 | |||||||
| chr16:47652379 | C | CT | 8 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(5): Show |
8 | HG00438.hp1 HG02886.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.1971+1476dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47652379 | ||||||
| chr16:47652379 | CT | C | 7 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(4): Show |
8 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1971+1476delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47652379 | ||||||
| chr16:47652491 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1971+1570C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47652491 | |||||||
| chr16:47652945 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1971+2024A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47652945 | |||||||
| chr16:47652961 | G | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1971+2040G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47652961 | |||||||
| chr16:47652990 | CT | C | 7 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0003g0019 others(4): Show |
7 | HG01884.hp1 HG02109.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.1971+2083delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47652990 | ||||||
| chr16:47653513 | A | G | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1971+2592A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47653513 | |||||||
| chr16:47654278 | C | T | 1 | a0001c0001t0001g0074 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1971+3357C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47654278 | |||||||
| chr16:47654809 | G | C | 1 | a0001c0001t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1971+3888G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47654809 | |||||||
| chr16:47654957 | AAAAT | A | 3 | a0001c0001t0001g0062 a0001c0001t0002g0064 a0001c0001t0009g0005 |
3 | HG01891.hp2 HG02965.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1971+4044_1971+404 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47654957 | ||||||
| chr16:47655313 | C | T | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1971+4392C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47655313 | |||||||
| chr16:47655408 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1971+4487G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47655408 | |||||||
| chr16:47655894 | T | C | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1972-4612T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47655894 | |||||||
| chr16:47656188 | T | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1972-4318T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47656188 | |||||||
| chr16:47656499 | A | G | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1972-4007A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47656499 | |||||||
| chr16:47656526 | G | C | 1 | a0001c0001t0001g0087 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1972-3980G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47656526 | |||||||
| chr16:47656563 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1972-3943A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47656563 | |||||||
| chr16:47656942 | T | C | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1972-3564T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47656942 | |||||||
| chr16:47657053 | C | T | 3 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 |
4 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.1972-3453C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47657053 | |||||||
| chr16:47657131 | T | C | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1972-3375T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47657131 | |||||||
| chr16:47657167 | C | G | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1972-3339C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47657167 | |||||||
| chr16:47657298 | C | T | 4 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show |
4 | HG00438.hp1 HG03831.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.1972-3208C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47657298 | |||||||
| chr16:47658184 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1972-2322C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47658184 | |||||||
| chr16:47658501 | G | A | 1 | a0001c0001t0001g0010 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1972-2005G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47658501 | |||||||
| chr16:47658809 | A | AGT | 31 | a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0067 others(28): Show |
31 | HG00280.hp1 HG00438.hp2 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.1972-1656_1972-165 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47658809 | ||||||
| chr16:47658809 | A | AGTGT | 23 | a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0058 others(20): Show |
24 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1972-1658_1972-165 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47658809 | ||||||
| chr16:47658809 | A | AGTGTGT | 6 | a0001c0001t0001g0061 a0001c0001t0001g0077 a0002c0002t0002g0044 others(3): Show |
6 | HG02258.hp2 HG02895.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.1972-1660_1972-165 others(10): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47658809 | ||||||
| chr16:47658809 | A | AGTGTGTG others(5): Show |
2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1972-1666_1972-165 others(16): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47658809 | ||||||
| chr16:47658809 | AGT | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(3): Show |
7 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1972-1656_1972-165 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47658809 | ||||||
| chr16:47658809 | AGTGT | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1972-1658_1972-165 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | 47658809 | ||||||
| chr16:47658885 | A | G | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1972-1621A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47658885 | |||||||
| chr16:47659378 | G | A | 2 | a0001c0001t0003g0020 a0001c0001t0003g0021 |
2 | HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1972-1128G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47659378 | |||||||
| chr16:47659440 | C | A | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1972-1066C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47659440 | |||||||
| chr16:47659980 | C | T | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1972-526C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47659980 | |||||||
| chr16:47660149 | A | G | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1972-357A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47660149 | |||||||
| chr16:47660340 | A | G | 1 | a0001c0001t0002g0027 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1972-166A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 20/30 | chr16 | 47660340 | |||||||
| chr16:47660910 | G | T | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.2196+91G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 22/30 | chr16 | 47660910 | |||||||
| chr16:47661164 | C | G | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.2196+345C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 22/30 | chr16 | 47661164 | |||||||
| chr16:47661303 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2197-416C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 22/30 | chr16 | 47661303 | |||||||
| chr16:47661548 | G | A | 38 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(35): Show |
39 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.2197-171G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 22/30 | chr16 | 47661548 | |||||||
| chr16:47661957 | C | T | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2278+157C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 23/30 | chr16 | 47661957 | |||||||
| chr16:47662509 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2278+709C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 23/30 | chr16 | 47662509 | |||||||
| chr16:47662538 | G | A | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.2278+738G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 23/30 | chr16 | 47662538 | |||||||
| chr16:47663065 | C | T | 1 | a0009c0011t0001g0059 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.2279-612C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 23/30 | chr16 | 47663065 | |||||||
| chr16:47663159 | T | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2279-518T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 23/30 | chr16 | 47663159 | |||||||
| chr16:47663840 | A | C | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2336+106A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47663840 | |||||||
| chr16:47663872 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2336+138A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47663872 | |||||||
| chr16:47663964 | C | T | 2 | a0001c0001t0001g0006 a0001c0001t0001g0063 |
2 | HG02622.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.2336+230C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47663964 | |||||||
| chr16:47664069 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2336+335T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47664069 | |||||||
| chr16:47664223 | A | G | 1 | a0001c0001t0001g0092 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2336+489A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47664223 | |||||||
| chr16:47664244 | T | C | 4 | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 others(1): Show |
5 | HG02055.hp2 HG02109.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.2336+510T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47664244 | |||||||
| chr16:47664289 | G | A | 1 | a0004c0004t0004g0055 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2336+555G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47664289 | |||||||
| chr16:47664805 | T | A | 38 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(35): Show |
39 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.2337-80T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 24/30 | chr16 | 47664805 | |||||||
| chr16:47665719 | C | G | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2427+744C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47665719 | |||||||
| chr16:47666336 | C | T | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2427+1361C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47666336 | |||||||
| chr16:47666548 | C | T | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2427+1573C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47666548 | |||||||
| chr16:47666722 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2427+1747C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47666722 | |||||||
| chr16:47667166 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2428-2049C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47667166 | |||||||
| chr16:47667201 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2428-2014G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47667201 | |||||||
| chr16:47667288 | A | G | 3 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 |
3 | HG00735.hp1 HG01074.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.2428-1927A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47667288 | |||||||
| chr16:47667518 | T | C | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2428-1697T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47667518 | |||||||
| chr16:47668459 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2428-756G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47668459 | |||||||
| chr16:47668483 | C | T | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.2428-732C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47668483 | |||||||
| chr16:47668523 | A | G | 1 | a0002c0002t0010g0035 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2428-692A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47668523 | |||||||
| chr16:47668526 | A | G | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.2428-689A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47668526 | |||||||
| chr16:47668792 | C | T | 4 | a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0076 others(1): Show |
5 | HG02559.hp2 HG02976.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2428-423C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 25/30 | chr16 | 47668792 | |||||||
| chr16:47669696 | G | A | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.2630+279G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47669696 | |||||||
| chr16:47669945 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2630+528A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47669945 | |||||||
| chr16:47669968 | C | A | 2 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | HG02280.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.2630+551C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47669968 | |||||||
| chr16:47670552 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2630+1135C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47670552 | |||||||
| chr16:47670715 | CT | C | 2 | a0001c0001t0001g0086 a0001c0001t0001g0091 |
2 | HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2630+1301delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47670715 | ||||||
| chr16:47671440 | A | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2630+2023A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47671440 | |||||||
| chr16:47671499 | T | C | 1 | a0001c0001t0001g0088 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2630+2082T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47671499 | |||||||
| chr16:47671587 | T | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2630+2170T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47671587 | |||||||
| chr16:47671760 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2630+2343C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47671760 | |||||||
| chr16:47671956 | CAAT | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2630+2547_2630+254 others(7): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47671956 | ||||||
| chr16:47671989 | T | C | 1 | a0006c0009t0001g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2630+2572T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47671989 | |||||||
| chr16:47672586 | A | G | 2 | a0001c0001t0003g0020 a0001c0001t0003g0021 |
2 | HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2630+3169A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47672586 | |||||||
| chr16:47672636 | G | A | 10 | a0002c0002t0002g0034 a0002c0002t0002g0043 a0002c0002t0002g0044 others(7): Show |
10 | HG01109.hp1 HG01891.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.2630+3219G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47672636 | |||||||
| chr16:47672795 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2630+3378A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47672795 | |||||||
| chr16:47672827 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2630+3410T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47672827 | |||||||
| chr16:47673129 | A | AT | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2630+3726dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47673129 | ||||||
| chr16:47673129 | AT | A | 53 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(50): Show |
54 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.2630+3726delT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47673129 | ||||||
| chr16:47673419 | G | A | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2630+4002G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47673419 | |||||||
| chr16:47673581 | A | G | 1 | a0002c0002t0002g0030 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2630+4164A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47673581 | |||||||
| chr16:47674647 | G | A | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.2630+5230G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47674647 | |||||||
| chr16:47675500 | T | TAC | 5 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(2): Show |
5 | HG02280.hp1 HG02818.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2630+6102_2630+610 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675500 | ||||||
| chr16:47675500 | T | TACAC | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.2630+6100_2630+610 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675500 | ||||||
| chr16:47675500 | TAC | T | 14 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0062 others(11): Show |
15 | HG00280.hp1 HG00438.hp2 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.2630+6102_2630+610 others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675500 | ||||||
| chr16:47675517 | A | ACTCT | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.2630+6101_2630+610 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675517 | ||||||
| chr16:47675517 | ACACT | A | 3 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 |
3 | HG02280.hp2 HG02717.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.2630+6102_2630+610 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675517 | ||||||
| chr16:47675519 | A | ACACACT | 16 | a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0034 others(13): Show |
16 | HG01109.hp1 HG01361.hp1 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.2630+6103_2630+610 others(10): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675519 | ||||||
| chr16:47675519 | A | ACACACTC others(5): Show |
3 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2630+6103_2630+610 others(16): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675519 | ||||||
| chr16:47675519 | A | ACACT | 8 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0004g0053 others(5): Show |
8 | HG01496.hp2 HG02109.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.2630+6103_2630+610 others(8): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675519 | ||||||
| chr16:47675519 | A | ACACTCT | 3 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 |
3 | HG00735.hp1 HG01074.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.2630+6103_2630+610 others(10): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47675519 | ||||||
| chr16:47675519 | A | T | 4 | a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0002g0064 others(1): Show |
4 | HG01496.hp1 HG01891.hp2 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.2630+6102A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47675519 | |||||||
| chr16:47675521 | T | A | 3 | a0001c0001t0001g0071 a0001c0001t0002g0095 a0002c0002t0002g0033 |
3 | HG00280.hp2 HG02896.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2630+6104T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47675521 | |||||||
| chr16:47675536 | C | T | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.2630+6119C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47675536 | |||||||
| chr16:47676396 | A | G | 1 | a0007c0006t0001g0072 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2630+6979A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47676396 | |||||||
| chr16:47676548 | A | G | 1 | a0002c0002t0002g0033 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2630+7131A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47676548 | |||||||
| chr16:47676943 | A | C | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2630+7526A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47676943 | |||||||
| chr16:47677010 | C | T | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2630+7593C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47677010 | |||||||
| chr16:47678021 | T | C | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2630+8604T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678021 | |||||||
| chr16:47678023 | C | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.2630+8606C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678023 | |||||||
| chr16:47678222 | A | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2630+8805A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678222 | |||||||
| chr16:47678234 | A | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2630+8817A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678234 | |||||||
| chr16:47678264 | T | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2630+8847T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678264 | |||||||
| chr16:47678266 | A | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2630+8849A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678266 | |||||||
| chr16:47678405 | C | A | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2630+8988C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678405 | |||||||
| chr16:47678525 | C | G | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2630+9108C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678525 | |||||||
| chr16:47678530 | G | C | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2630+9113G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678530 | |||||||
| chr16:47678588 | A | G | 1 | a0001c0001t0009g0005 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2630+9171A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678588 | |||||||
| chr16:47678634 | A | C | 6 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0019 others(3): Show |
6 | HG02280.hp1 HG02280.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.2630+9217A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678634 | |||||||
| chr16:47678726 | T | C | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.2630+9309T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678726 | |||||||
| chr16:47678728 | C | T | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.2630+9311C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678728 | |||||||
| chr16:47678752 | T | A | 1 | a0001c0001t0001g0077 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2630+9335T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47678752 | |||||||
| chr16:47679124 | G | A | 1 | a0001c0001t0001g0058 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2630+9707G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47679124 | |||||||
| chr16:47679404 | A | G | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2631-9637A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47679404 | |||||||
| chr16:47679480 | C | A | 1 | a0001c0001t0001g0071 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2631-9561C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47679480 | |||||||
| chr16:47679824 | G | C | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2631-9217G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47679824 | |||||||
| chr16:47680270 | T | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.2631-8771T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47680270 | |||||||
| chr16:47680476 | G | A | 2 | a0001c0001t0001g0071 a0001c0001t0008g0012 |
2 | HG00280.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.2631-8565G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47680476 | |||||||
| chr16:47680553 | C | G | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.2631-8488C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47680553 | |||||||
| chr16:47681076 | G | A | 1 | a0001c0001t0004g0053 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2631-7965G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681076 | |||||||
| chr16:47681273 | A | C | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7768A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681273 | |||||||
| chr16:47681288 | A | G | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7753A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681288 | |||||||
| chr16:47681325 | TG | T | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7715delG | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681325 | |||||||
| chr16:47681329 | A | G | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7712A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681329 | |||||||
| chr16:47681343 | T | C | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7698T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681343 | |||||||
| chr16:47681353 | A | T | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7688A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681353 | |||||||
| chr16:47681371 | G | A | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2631-7670G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681371 | |||||||
| chr16:47681387 | T | A | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7654T>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681387 | |||||||
| chr16:47681388 | T | C | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7653T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681388 | |||||||
| chr16:47681391 | C | A | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7650C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681391 | |||||||
| chr16:47681421 | C | G | 2 | a0002c0002t0002g0049 a0002c0002t0002g0050 |
2 | HG02976.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2631-7620C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681421 | |||||||
| chr16:47681425 | A | C | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7616A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681425 | |||||||
| chr16:47681443 | A | T | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7598A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681443 | |||||||
| chr16:47681453 | T | C | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7588T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681453 | |||||||
| chr16:47681456 | A | G | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7585A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681456 | |||||||
| chr16:47681458 | G | A | 6 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.2631-7583G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681458 | |||||||
| chr16:47681601 | T | C | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.2631-7440T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681601 | |||||||
| chr16:47681739 | G | C | 3 | a0002c0002t0002g0034 a0002c0002t0002g0043 a0002c0002t0010g0035 |
3 | HG01109.hp1 HG02630.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2631-7302G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681739 | |||||||
| chr16:47681943 | G | T | 3 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 |
3 | HG02818.hp1 HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2631-7098G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47681943 | |||||||
| chr16:47683097 | ATGC | A | 2 | a0002c0002t0002g0034 a0002c0002t0002g0043 |
2 | HG01109.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.2631-5937_2631-593 others(7): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47683097 | ||||||
| chr16:47683113 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2631-5928G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683113 | |||||||
| chr16:47683151 | A | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2631-5890A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683151 | |||||||
| chr16:47683177 | G | C | 4 | a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0083 others(1): Show |
4 | HG03017.hp1 HG03491.hp2 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.2631-5864G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683177 | |||||||
| chr16:47683328 | C | T | 2 | a0001c0001t0003g0020 a0001c0001t0003g0021 |
2 | HG02970.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2631-5713C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683328 | |||||||
| chr16:47683340 | T | C | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2631-5701T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683340 | |||||||
| chr16:47683486 | G | A | 1 | a0002c0002t0002g0030 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2631-5555G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683486 | |||||||
| chr16:47683592 | C | T | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2631-5449C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47683592 | |||||||
| chr16:47684061 | C | T | 7 | a0001c0001t0001g0077 a0001c0001t0002g0001 a0001c0001t0002g0023 others(4): Show |
8 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.2631-4980C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684061 | |||||||
| chr16:47684317 | C | T | 3 | a0001c0001t0001g0077 a0001c0001t0002g0024 a0001c0001t0002g0025 |
3 | HG01884.hp1 HG03453.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2631-4724C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684317 | |||||||
| chr16:47684422 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2631-4619C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684422 | |||||||
| chr16:47684443 | A | G | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2631-4598A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684443 | |||||||
| chr16:47684635 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2631-4406C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684635 | |||||||
| chr16:47684696 | G | T | 1 | a0002c0002t0002g0029 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2631-4345G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684696 | |||||||
| chr16:47684754 | G | A | 1 | a0001c0001t0001g0010 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2631-4287G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47684754 | |||||||
| chr16:47685105 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2631-3936C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47685105 | |||||||
| chr16:47685298 | G | A | 2 | a0001c0001t0005g0068 a0001c0001t0005g0069 |
2 | HG00735.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.2631-3743G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47685298 | |||||||
| chr16:47685745 | C | CT | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2631-3282dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | 47685745 | ||||||
| chr16:47686227 | G | A | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show |
95 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.2631-2814G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47686227 | |||||||
| chr16:47686576 | T | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2631-2465T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47686576 | |||||||
| chr16:47687076 | T | G | 6 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(3): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.2631-1965T>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47687076 | |||||||
| chr16:47687108 | C | T | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.2631-1933C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47687108 | |||||||
| chr16:47687268 | A | G | 5 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0004g0053 others(2): Show |
5 | HG01496.hp2 HG02723.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.2631-1773A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47687268 | |||||||
| chr16:47687387 | G | A | 1 | a0002c0002t0002g0048 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2631-1654G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47687387 | |||||||
| chr16:47688257 | A | G | 2 | a0001c0001t0005g0068 a0001c0001t0005g0069 |
2 | HG00735.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.2631-784A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47688257 | |||||||
| chr16:47688961 | A | G | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2631-80A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 26/30 | chr16 | 47688961 | |||||||
| chr16:47689457 | C | G | 3 | a0001c0001t0004g0053 a0001c0001t0004g0054 a0004c0004t0004g0055 |
3 | HG01496.hp2 HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2765+282C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47689457 | |||||||
| chr16:47690106 | G | A | 1 | a0001c0001t0003g0022 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2765+931G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47690106 | |||||||
| chr16:47690107 | T | C | 5 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0004g0053 others(2): Show |
5 | HG01496.hp2 HG02723.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.2765+932T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47690107 | |||||||
| chr16:47690159 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2765+984A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47690159 | |||||||
| chr16:47690478 | A | G | 3 | a0001c0001t0001g0092 a0001c0001t0005g0068 a0001c0001t0005g0069 |
3 | HG00735.hp2 HG01255.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2765+1303A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47690478 | |||||||
| chr16:47690503 | G | T | 1 | a0001c0001t0002g0093 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2765+1328G>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47690503 | |||||||
| chr16:47690782 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2765+1607C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47690782 | |||||||
| chr16:47691159 | T | C | 1 | a0001c0001t0002g0023 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2765+1984T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47691159 | |||||||
| chr16:47691702 | C | CA | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.2766-1661dupA | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | 47691702 | ||||||
| chr16:47691993 | G | A | 2 | a0001c0001t0004g0053 a0001c0001t0004g0054 |
2 | HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2766-1385G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47691993 | |||||||
| chr16:47691994 | C | G | 2 | a0001c0001t0004g0053 a0001c0001t0004g0054 |
2 | HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2766-1384C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47691994 | |||||||
| chr16:47691995 | A | T | 2 | a0001c0001t0004g0053 a0001c0001t0004g0054 |
2 | HG02723.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2766-1383A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47691995 | |||||||
| chr16:47691999 | G | C | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2766-1379G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47691999 | |||||||
| chr16:47692278 | G | A | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.2766-1100G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47692278 | |||||||
| chr16:47692364 | C | T | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2766-1014C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | chr16 | 47692364 | |||||||
| chr16:47692613 | C | CAAAT | 4 | a0001c0001t0001g0092 a0001c0001t0002g0023 a0006c0009t0001g0004 others(1): Show |
4 | HG02886.hp2 HG03017.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2766-732_2766-729d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | 47692613 | ||||||
| chr16:47692613 | CAAAT | C | 5 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0020 others(2): Show |
5 | HG00280.hp2 HG02280.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2766-732_2766-729d others(6): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | 47692613 | ||||||
| chr16:47694172 | G | A | 25 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(22): Show |
25 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2895+665G>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47694172 | |||||||
| chr16:47695150 | C | G | 1 | a0001c0001t0001g0090 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2896-1231C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47695150 | |||||||
| chr16:47695411 | T | C | 42 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(39): Show |
43 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.2896-970T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47695411 | |||||||
| chr16:47695430 | T | C | 20 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0062 others(17): Show |
21 | HG00280.hp1 HG00438.hp2 HG01261.hp1 others(18): Show |
intron_variant | MODIFIER | c.2896-951T>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47695430 | |||||||
| chr16:47695481 | A | G | 2 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | HG02970.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2896-900A>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47695481 | |||||||
| chr16:47695882 | C | T | 7 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(4): Show |
7 | HG00438.hp1 HG02886.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.2896-499C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47695882 | |||||||
| chr16:47695885 | C | T | 1 | a0002c0002t0002g0044 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2896-496C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47695885 | |||||||
| chr16:47696144 | TC | T | 37 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(34): Show |
38 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.2896-236delC | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 28/30 | chr16 | 47696144 | |||||||
| chr16:47696802 | C | G | 4 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(1): Show |
4 | HG02280.hp1 HG02818.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.3003+314C>G | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47696802 | |||||||
| chr16:47697443 | C | T | 2 | a0001c0001t0002g0064 a0001c0001t0009g0005 |
2 | HG01891.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.3003+955C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47697443 | |||||||
| chr16:47697493 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3004-955C>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47697493 | |||||||
| chr16:47697535 | A | T | 41 | a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0024 others(38): Show |
42 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.3004-913A>T | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47697535 | |||||||
| chr16:47698096 | G | C | 1 | a0005c0007t0011g0096 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3004-352G>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47698096 | |||||||
| chr16:47698231 | A | C | 1 | a0001c0001t0001g0077 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3004-217A>C | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47698231 | |||||||
| chr16:47698246 | C | A | 1 | a0001c0001t0002g0026 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3004-202C>A | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 29/30 | chr16 | 47698246 | |||||||
| chr16:47698601 | C | CT | 57 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(54): Show |
59 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(56): Show |
intron_variant | MODIFIER | c.3144+34dupT | PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr16 | 47698601 | ||||||
| chr16:47698601 | C | CTT | 11 | a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0057 others(8): Show |
11 | HG01074.hp1 HG02055.hp1 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.3144+33_3144+34dup others(2): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr16 | 47698601 | ||||||
| chr16:47698601 | C | CTTT | 21 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.3144+32_3144+34dup others(3): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr16 | 47698601 |