Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 100132247 |
| ensemblid | ENSG00000243716.12 |
| hgncid | 37233 |
| symbol | NPIPB5 |
| name | nuclear pore complex interacting protein family member B5 |
| refseq_nuc | NM_001395849.1 |
| refseq_prot | NP_001382778.1 |
| ensembl_nuc | ENST00000424340.7 |
| ensembl_prot | ENSP00000440703.1 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 22510891 |
| end | 22536535 |
| strand | + |
| ver | v1.2 |
| region | chr16:22510891-22536535 |
| region5000 | chr16:22505891-22541535 |
| regionname0 | NPIPB5_chr16_22510891_22536535 |
| regionname5000 | NPIPB5_chr16_22505891_22541535 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 1133 | 14 | 0 | 1 | 8 | 2 | 2 | 5 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0002 | 0/0 | 1133 | 3 | 0 | 3 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0003 | 0/0 | 1213 | 3 | 2 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1208): Show |
chr16 | 22505891 | 22541535 |
| a0004 | 0/0 | 925 | 2 | 0 | 1 | 1 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(920): Show |
chr16 | 22505891 | 22541535 |
| a0005 | 0/0 | 967 | 2 | 0 | 0 | 1 | 0 | 1 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(962): Show |
chr16 | 22505891 | 22541535 |
| a0006 | 0/0 | 1385 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1380): Show |
chr16 | 22505891 | 22541535 |
| a0007 | 0/0 | 1133 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0008 | 0/0 | 1049 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1044): Show |
chr16 | 22505891 | 22541535 |
| a0009 | 0/0 | 710 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(705): Show |
chr16 | 22505891 | 22541535 |
| a0010 | 0/0 | 887 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(882): Show |
chr16 | 22505891 | 22541535 |
| a0011 | 0/0 | 709 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(704): Show |
chr16 | 22505891 | 22541535 |
| a0012 | 0/0 | 1217 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1212): Show |
chr16 | 22505891 | 22541535 |
| a0013 | 0/0 | 1205 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1200): Show |
chr16 | 22505891 | 22541535 |
| a0014 | 0/0 | 375 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(370): Show |
chr16 | 22505891 | 22541535 |
| a0015 | 0/0 | 1175 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1170): Show |
chr16 | 22505891 | 22541535 |
| a0016 | 0/0 | 1132 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1127): Show |
chr16 | 22505891 | 22541535 |
| a0017 | 0/0 | 1091 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1086): Show |
chr16 | 22505891 | 22541535 |
| a0018 | 0/0 | 925 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(920): Show |
chr16 | 22505891 | 22541535 |
| a0019 | 0/0 | 1133 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0020 | 0/0 | 1049 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1044): Show |
chr16 | 22505891 | 22541535 |
| a0021 | 0/0 | 1133 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0022 | 0/0 | 1133 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0023 | 0/0 | 1007 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1002): Show |
chr16 | 22505891 | 22541535 |
| a0024 | 0/0 | 1133 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0025 | 0/0 | 1255 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1250): Show |
chr16 | 22505891 | 22541535 |
| a0026 | 0/0 | 1156 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1151): Show |
chr16 | 22505891 | 22541535 |
| a0027 | 0/0 | 1133 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(1128): Show |
chr16 | 22505891 | 22541535 |
| a0028 | 0/0 | 713 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | MVKLS others(708): Show |
chr16 | 22505891 | 22541535 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 3399 | 14 | 0 | 1 | 8 | 2 | 2 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0002c0003 | 0/0 | 3399 | 2 | 0 | 2 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0002c0016 | 0/0 | 3399 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0003c0002 | 0/0 | 3639 | 2 | 2 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3634): Show |
chr16 | 22505891 | 22541535 | ||
| a0003c0010 | 0/0 | 3639 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3634): Show |
chr16 | 22505891 | 22541535 | ||
| a0004c0025 | 0/0 | 3538 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3533): Show |
chr16 | 22505891 | 22541535 | ||
| a0004c0026 | 0/0 | 3538 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3533): Show |
chr16 | 22505891 | 22541535 | ||
| a0005c0005 | 0/0 | 3664 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3659): Show |
chr16 | 22505891 | 22541535 | ||
| a0005c0006 | 0/0 | 3664 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3659): Show |
chr16 | 22505891 | 22541535 | ||
| a0006c0022 | 0/0 | 4155 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(4150): Show |
chr16 | 22505891 | 22541535 | ||
| a0007c0012 | 0/0 | 3399 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0008c0011 | 0/0 | 3147 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3142): Show |
chr16 | 22505891 | 22541535 | ||
| a0009c0004 | 0/0 | 3331 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3326): Show |
chr16 | 22505891 | 22541535 | ||
| a0010c0023 | 0/0 | 3424 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3419): Show |
chr16 | 22505891 | 22541535 | ||
| a0011c0008 | 0/0 | 3415 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3410): Show |
chr16 | 22505891 | 22541535 | ||
| a0012c0019 | 0/0 | 3651 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3646): Show |
chr16 | 22505891 | 22541535 | ||
| a0013c0030 | 0/0 | 3615 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3610): Show |
chr16 | 22505891 | 22541535 | ||
| a0014c0031 | 0/0 | 3562 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3557): Show |
chr16 | 22505891 | 22541535 | ||
| a0015c0007 | 0/0 | 3525 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3520): Show |
chr16 | 22505891 | 22541535 | ||
| a0016c0024 | 0/0 | 3396 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3391): Show |
chr16 | 22505891 | 22541535 | ||
| a0017c0018 | 0/0 | 3273 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3268): Show |
chr16 | 22505891 | 22541535 | ||
| a0018c0020 | 0/0 | 3538 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3533): Show |
chr16 | 22505891 | 22541535 | ||
| a0019c0017 | 0/0 | 3399 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0020c0028 | 0/0 | 3147 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3142): Show |
chr16 | 22505891 | 22541535 | ||
| a0021c0029 | 0/0 | 3399 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0022c0013 | 0/0 | 3399 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0023c0009 | 0/0 | 3021 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3016): Show |
chr16 | 22505891 | 22541535 | ||
| a0024c0015 | 0/0 | 3399 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0025c0032 | 0/0 | 3765 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3760): Show |
chr16 | 22505891 | 22541535 | ||
| a0026c0021 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3463): Show |
chr16 | 22505891 | 22541535 | ||
| a0027c0014 | 0/0 | 3399 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3394): Show |
chr16 | 22505891 | 22541535 | ||
| a0028c0027 | 0/0 | 3427 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | ATGGT others(3422): Show |
chr16 | 22505891 | 22541535 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 6463 | 13 | 0 | 1 | 7 | 2 | 2 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0001c0001t0017 | 0/0 | 6463 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0002c0003t0001 | 0/0 | 6463 | 2 | 0 | 2 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0002c0016t0001 | 0/0 | 6463 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0003c0002t0005 | 0/0 | 6703 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6698): Show |
chr16 | 22505891 | 22541535 |
| a0003c0002t0006 | 0/0 | 6703 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6698): Show |
chr16 | 22505891 | 22541535 |
| a0003c0010t0003 | 0/0 | 6703 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6698): Show |
chr16 | 22505891 | 22541535 |
| a0004c0025t0002 | 0/0 | 6602 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6597): Show |
chr16 | 22505891 | 22541535 |
| a0004c0026t0015 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6597): Show |
chr16 | 22505891 | 22541535 |
| a0005c0005t0011 | 0/0 | 6728 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6723): Show |
chr16 | 22505891 | 22541535 |
| a0005c0006t0001 | 0/0 | 6728 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6723): Show |
chr16 | 22505891 | 22541535 |
| a0006c0022t0001 | 0/0 | 7219 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(7214): Show |
chr16 | 22505891 | 22541535 |
| a0007c0012t0001 | 0/0 | 6463 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0008c0011t0001 | 0/0 | 6211 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6206): Show |
chr16 | 22505891 | 22541535 |
| a0009c0004t0010 | 0/0 | 6395 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6390): Show |
chr16 | 22505891 | 22541535 |
| a0010c0023t0002 | 0/0 | 6488 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6483): Show |
chr16 | 22505891 | 22541535 |
| a0011c0008t0016 | 0/0 | 6478 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6473): Show |
chr16 | 22505891 | 22541535 |
| a0012c0019t0012 | 0/0 | 6710 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6705): Show |
chr16 | 22505891 | 22541535 |
| a0013c0030t0007 | 0/0 | 6669 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6664): Show |
chr16 | 22505891 | 22541535 |
| a0014c0031t0008 | 0/0 | 6615 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6610): Show |
chr16 | 22505891 | 22541535 |
| a0015c0007t0001 | 0/0 | 6589 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6584): Show |
chr16 | 22505891 | 22541535 |
| a0016c0024t0002 | 0/0 | 6460 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6455): Show |
chr16 | 22505891 | 22541535 |
| a0017c0018t0009 | 0/0 | 6336 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6331): Show |
chr16 | 22505891 | 22541535 |
| a0018c0020t0002 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6597): Show |
chr16 | 22505891 | 22541535 |
| a0019c0017t0001 | 0/0 | 6463 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0020c0028t0003 | 0/0 | 6211 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6206): Show |
chr16 | 22505891 | 22541535 |
| a0021c0029t0001 | 0/0 | 6463 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0022c0013t0001 | 0/0 | 6463 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0023c0009t0001 | 0/0 | 6085 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6080): Show |
chr16 | 22505891 | 22541535 |
| a0024c0015t0001 | 0/0 | 6463 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0025c0032t0014 | 0/0 | 6828 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6823): Show |
chr16 | 22505891 | 22541535 |
| a0026c0021t0004 | 0/0 | 6532 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6527): Show |
chr16 | 22505891 | 22541535 |
| a0027c0014t0001 | 0/0 | 6463 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6458): Show |
chr16 | 22505891 | 22541535 |
| a0028c0027t0013 | 0/0 | 6491 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | GATAG others(6486): Show |
chr16 | 22505891 | 22541535 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0024 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0001c0001t0017g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0002c0003t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0002c0003t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0002c0016t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0003c0002t0005g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0003c0002t0006g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0003c0010t0003g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0004c0025t0002g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0004c0026t0015g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0005c0005t0011g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0005c0006t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0006c0022t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0007c0012t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0008c0011t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0009c0004t0010g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0010c0023t0002g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0011c0008t0016g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0012c0019t0012g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0013c0030t0007g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0014c0031t0008g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0015c0007t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0016c0024t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0017c0018t0009g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0018c0020t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0019c0017t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0020c0028t0003g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0021c0029t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0022c0013t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0023c0009t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0024c0015t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0025c0032t0014g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0026c0021t0004g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0027c0014t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| a0028c0027t0013g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0017 | EUR | GBR | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0026 | EUR | GBR | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00323 | hp1 | a0006 | c0022 | t0001 | g0009 | EUR | FIN | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00323 | hp2 | a0007 | c0012 | t0001 | g0022 | EUR | FIN | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00438 | hp1 | a0001 | c0001 | t0017 | g0028 | EAS | CHS | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00438 | hp2 | a0008 | c0011 | t0001 | g0029 | EAS | CHS | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00621 | hp1 | a0009 | c0004 | t0010 | g0043 | EAS | CHS | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0034 | EAS | CHS | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00642 | hp1 | a0010 | c0023 | t0002 | g0007 | AMR | PUR | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0033 | AMR | PUR | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG01496 | hp1 | a0011 | c0008 | t0016 | g0039 | AMR | CLM | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG01496 | hp2 | a0012 | c0019 | t0012 | g0010 | AMR | CLM | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG01975 | hp1 | a0002 | c0003 | t0001 | g0045 | AMR | PEL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG01975 | hp2 | a0013 | c0030 | t0007 | g0011 | AMR | PEL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG01981 | hp1 | a0002 | c0003 | t0001 | g0030 | AMR | PEL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG01981 | hp2 | a0014 | c0031 | t0008 | g0013 | AMR | PEL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02040 | hp1 | a0015 | c0007 | t0001 | g0035 | EAS | KHV | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02040 | hp2 | a0016 | c0024 | t0002 | g0006 | EAS | KHV | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02148 | hp1 | a0002 | c0016 | t0001 | g0031 | AMR | PEL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02148 | hp2 | a0004 | c0026 | t0015 | g0005 | AMR | PEL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02155 | hp1 | a0017 | c0018 | t0009 | g0002 | EAS | CDX | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | CDX | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0021 | SAS | PJL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02602 | hp2 | a0005 | c0005 | t0011 | g0019 | SAS | PJL | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02622 | hp1 | a0003 | c0002 | t0005 | g0003 | AFR | GWD | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG02622 | hp2 | a0018 | c0020 | t0002 | g0041 | AFR | GWD | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG03834 | hp1 | a0019 | c0017 | t0001 | g0025 | SAS | BEB | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0037 | SAS | BEB | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG03927 | hp1 | a0003 | c0010 | t0003 | g0014 | SAS | BEB | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| HG03927 | hp2 | a0020 | c0028 | t0003 | g0015 | SAS | BEB | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA18522 | hp1 | a0021 | c0029 | t0001 | g0004 | AFR | YRI | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA18522 | hp2 | a0022 | c0013 | t0001 | g0038 | AFR | YRI | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA18948 | hp1 | a0023 | c0009 | t0001 | g0027 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19002 | hp1 | a0024 | c0015 | t0001 | g0020 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19043 | hp1 | a0025 | c0032 | t0014 | g0012 | AFR | LWK | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19043 | hp2 | a0026 | c0021 | t0004 | g0042 | AFR | LWK | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19057 | hp2 | a0004 | c0025 | t0002 | g0008 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19082 | hp1 | a0027 | c0014 | t0001 | g0018 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA19082 | hp2 | a0005 | c0006 | t0001 | g0016 | EAS | JPT | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA20300 | hp1 | a0028 | c0027 | t0013 | g0040 | AFR | USA | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| NA20300 | hp2 | a0003 | c0002 | t0006 | g0046 | AFR | USA | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0024 | REF | REF | NPIPB5_chr16_22505891_22541535 | NPIPB5 | chr16 | 22505891 | 22541535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:22527841 | G | T | 14 | a0004 a0006 a0009 others(11): Show |
15 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(12): Show |
missense_variant | MODERATE | c.413G>T | p.Gly138Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/7 | 3324/6463 | 413/3402 | 138/1133 | chr16 | 22527841 | |||
| chr16:22527871 | A | G | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.443A>G | p.His148Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/7 | 3354/6463 | 443/3402 | 148/1133 | chr16 | 22527871 | |||
| chr16:22527946 | A | G | 1 | a0028 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.518A>G | p.Asn173Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/7 | 3429/6463 | 518/3402 | 173/1133 | chr16 | 22527946 | |||
| chr16:22527961 | C | G | 4 | a0004 a0006 a0010 others(1): Show |
5 | HG00323.hp1 HG00642.hp1 HG02040.hp2 others(2): Show |
missense_variant | MODERATE | c.533C>G | p.Thr178Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/7 | 3444/6463 | 533/3402 | 178/1133 | chr16 | 22527961 | |||
| chr16:22533794 | C | G | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.811C>G | p.Leu271Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3722/6463 | 811/3402 | 271/1133 | chr16 | 22533794 | |||
| chr16:22533848 | G | C | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.865G>C | p.Val289Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3776/6463 | 865/3402 | 289/1133 | chr16 | 22533848 | |||
| chr16:22533851 | C | G | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.868C>G | p.Leu290Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3779/6463 | 868/3402 | 290/1133 | chr16 | 22533851 | |||
| chr16:22533905 | G | C | 3 | a0013 a0014 a0026 |
3 | HG01975.hp2 HG01981.hp2 NA19043.hp2 |
missense_variant | MODERATE | c.922G>C | p.Val308Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3833/6463 | 922/3402 | 308/1133 | chr16 | 22533905 | |||
| chr16:22533908 | C | G | 1 | a0013 | 1 | HG01975.hp2 | missense_variant | MODERATE | c.925C>G | p.Leu309Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3836/6463 | 925/3402 | 309/1133 | chr16 | 22533908 | |||
| chr16:22533908 | C | T | 1 | a0014 | 1 | HG01981.hp2 | missense_variant | MODERATE | c.925C>T | p.Leu309Phe | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3836/6463 | 925/3402 | 309/1133 | chr16 | 22533908 | |||
| chr16:22533965 | C | G | 1 | a0014 | 1 | HG01981.hp2 | missense_variant | MODERATE | c.982C>G | p.Leu328Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3893/6463 | 982/3402 | 328/1133 | chr16 | 22533965 | |||
| chr16:22533965 | C | T | 1 | a0013 | 1 | HG01975.hp2 | missense_variant | MODERATE | c.982C>T | p.Leu328Phe | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3893/6463 | 982/3402 | 328/1133 | chr16 | 22533965 | |||
| chr16:22533975 | T | TTCCACCC others(17): Show |
1 | a0026 | 1 | NA19043.hp2 | disruptive_inframe_insertion | MODERATE | c.1004_1005insTCTACC others(18): Show |
p.Ala335_Asp336insLe others(22): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3916/6463 | 1005/3402 | 335/1133 | INFO_REALIGN_3_PRIME | chr16 | 22533975 | ||
| chr16:22534008 | C | G | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1025C>G | p.Pro342Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3936/6463 | 1025/3402 | 342/1133 | chr16 | 22534008 | |||
| chr16:22534010 | C | G | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1027C>G | p.Pro343Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3938/6463 | 1027/3402 | 343/1133 | chr16 | 22534010 | |||
| chr16:22534022 | C | G | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.1039C>G | p.Leu347Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3950/6463 | 1039/3402 | 347/1133 | chr16 | 22534022 | |||
| chr16:22534025 | A | C | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1042A>C | p.Thr348Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3953/6463 | 1042/3402 | 348/1133 | chr16 | 22534025 | |||
| chr16:22534026 | C | A | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1043C>A | p.Thr348Asn | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3954/6463 | 1043/3402 | 348/1133 | chr16 | 22534026 | |||
| chr16:22534043 | G | GCGGATGA others(30): Show |
1 | a0014 | 1 | HG01981.hp2 | frameshift_variant | HIGH | c.1061_1062insGGATGA others(31): Show |
p.Leu355fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3973/6463 | 1062/3402 | 354/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534043 | ||
| chr16:22534044 | C | CGGATGAT others(38): Show |
1 | a0013 | 1 | HG01975.hp2 | disruptive_inframe_insertion | MODERATE | c.1061_1062insGGATGA others(39): Show |
p.Ala354_Leu355insAs others(43): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3973/6463 | 1062/3402 | 354/1133 | chr16 | 22534044 | |||
| chr16:22534044 | C | CGGATGAT others(38): Show |
1 | a0026 | 1 | NA19043.hp2 | disruptive_inframe_insertion | MODERATE | c.1061_1062insGGATGA others(39): Show |
p.Ala354_Leu355insAs others(43): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3973/6463 | 1062/3402 | 354/1133 | chr16 | 22534044 | |||
| chr16:22534047 | T | C | 2 | a0013 a0026 |
2 | HG01975.hp2 NA19043.hp2 |
missense_variant | MODERATE | c.1064T>C | p.Leu355Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3975/6463 | 1064/3402 | 355/1133 | chr16 | 22534047 | |||
| chr16:22534056 | C | CGGATGAT others(38): Show |
1 | a0013 | 1 | HG01975.hp2 | disruptive_inframe_insertion | MODERATE | c.1073_1074insGGATGA others(39): Show |
p.Ala358_Pro359insAs others(43): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3985/6463 | 1074/3402 | 358/1133 | chr16 | 22534056 | |||
| chr16:22534079 | C | A | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1096C>A | p.Leu366Ile | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4007/6463 | 1096/3402 | 366/1133 | chr16 | 22534079 | |||
| chr16:22534089 | G | C | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1106G>C | p.Arg369Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4017/6463 | 1106/3402 | 369/1133 | chr16 | 22534089 | |||
| chr16:22534097 | T | C | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1114T>C | p.Cys372Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4025/6463 | 1114/3402 | 372/1133 | chr16 | 22534097 | |||
| chr16:22534104 | T | G | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1121T>G | p.Leu374Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4032/6463 | 1121/3402 | 374/1133 | chr16 | 22534104 | |||
| chr16:22534106 | C | G | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1123C>G | p.His375Asp | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4034/6463 | 1123/3402 | 375/1133 | chr16 | 22534106 | |||
| chr16:22534107 | A | G | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1124A>G | p.His375Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4035/6463 | 1124/3402 | 375/1133 | chr16 | 22534107 | |||
| chr16:22534108 | T | G | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1125T>G | p.His375Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4036/6463 | 1125/3402 | 375/1133 | chr16 | 22534108 | |||
| chr16:22534146 | C | T | 1 | a0017 | 1 | HG02155.hp1 | missense_variant | MODERATE | c.1163C>T | p.Pro388Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4074/6463 | 1163/3402 | 388/1133 | chr16 | 22534146 | |||
| chr16:22534219 | CGAGCGTC others(119): Show |
C | 1 | a0023 | 1 | NA18948.hp1 | disruptive_inframe_deletion | MODERATE | c.1362_1487del | p.Glu455_Ala496del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4273/6463 | 1362/3402 | 454/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534219 | ||
| chr16:22534281 | G | A | 1 | a0028 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.1298G>A | p.Arg433His | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4209/6463 | 1298/3402 | 433/1133 | chr16 | 22534281 | |||
| chr16:22534292 | C | G | 2 | a0021 a0026 |
2 | NA18522.hp1 NA19043.hp2 |
missense_variant | MODERATE | c.1309C>G | p.Pro437Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4220/6463 | 1309/3402 | 437/1133 | chr16 | 22534292 | |||
| chr16:22534296 | TTCCACCC others(5): Show |
T | 1 | a0021 | 1 | NA18522.hp1 | disruptive_inframe_deletion | MODERATE | c.1326_1337delTCCACC others(6): Show |
p.Pro443_Ala446del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4237/6463 | 1326/3402 | 442/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534296 | ||
| chr16:22534308 | C | CTCCACCC others(107): Show |
1 | a0026 | 1 | NA19043.hp2 | disruptive_inframe_insertion | MODERATE | c.1361_1362insCGAGCG others(108): Show |
p.Ala454_Glu455insGl others(112): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4273/6463 | 1362/3402 | 454/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534308 | ||
| chr16:22534397 | C | T | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.1414C>T | p.Pro472Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4325/6463 | 1414/3402 | 472/1133 | chr16 | 22534397 | |||
| chr16:22534410 | A | C | 1 | a0018 | 1 | HG02622.hp2 | missense_variant | MODERATE | c.1427A>C | p.Gln476Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4338/6463 | 1427/3402 | 476/1133 | chr16 | 22534410 | |||
| chr16:22534544 | G | C | 11 | a0005 a0006 a0009 others(8): Show |
12 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(9): Show |
missense_variant | MODERATE | c.1561G>C | p.Ala521Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4472/6463 | 1561/3402 | 521/1133 | chr16 | 22534544 | |||
| chr16:22534544 | G | GCCCTTCC others(233): Show |
2 | a0003 a0025 |
4 | HG02622.hp1 HG03927.hp1 NA19043.hp1 others(1): Show |
conservative_inframe_insertion | MODERATE | c.1728_1729insGAGCGT others(234): Show |
p.Ala576_Phe577insGl others(238): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534544 | ||
| chr16:22534548 | T | TTCCACCC others(5): Show |
4 | a0009 a0010 a0016 others(1): Show |
4 | HG00621.hp1 HG00642.hp1 HG02040.hp2 others(1): Show |
disruptive_inframe_insertion | MODERATE | c.1566_1577dupTCCACC others(6): Show |
p.Ala526_Asp527insPr others(10): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4489/6463 | 1578/3402 | 526/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534548 | ||
| chr16:22534548 | T | TTCCACCC others(119): Show |
2 | a0004 a0018 |
3 | HG02148.hp2 HG02622.hp2 NA19057.hp2 |
conservative_inframe_insertion | MODERATE | c.1603_1728dupGAGCGT others(120): Show |
p.Glu535_Ala576dup | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534548 | ||
| chr16:22534548 | T | TTCCACCC others(119): Show |
1 | a0015 | 1 | HG02040.hp1 | disruptive_inframe_insertion | MODERATE | c.1592_1593insTACACC others(120): Show |
p.Ile530_Lys531insAs others(124): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4504/6463 | 1593/3402 | 531/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534548 | ||
| chr16:22534548 | T | TTCCACCC others(131): Show |
2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
disruptive_inframe_insertion | MODERATE | c.1577_1578insTCCACC others(132): Show |
p.Ala526_Asp527insPr others(136): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4489/6463 | 1578/3402 | 526/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534548 | ||
| chr16:22534548 | T | TTCCACCC others(623): Show |
1 | a0006 | 1 | HG00323.hp1 | disruptive_inframe_insertion | MODERATE | c.1577_1578insTCCACC others(624): Show |
p.Ala526_Asp527insPr others(628): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4489/6463 | 1578/3402 | 526/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534548 | ||
| chr16:22534548 | T | TTCCACCC others(245): Show |
2 | a0005 a0012 |
3 | HG01496.hp2 HG02602.hp2 NA19082.hp2 |
disruptive_inframe_insertion | MODERATE | c.1577_1578insTCCACC others(246): Show |
p.Ala526_Asp527insPr others(250): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4489/6463 | 1578/3402 | 526/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534548 | ||
| chr16:22534576 | G | T | 2 | a0011 a0017 |
2 | HG01496.hp1 HG02155.hp1 |
missense_variant | MODERATE | c.1593G>T | p.Lys531Asn | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4504/6463 | 1593/3402 | 531/1133 | chr16 | 22534576 | |||
| chr16:22534658 | C | G | 2 | a0009 a0016 |
2 | HG00621.hp1 HG02040.hp2 |
missense_variant | MODERATE | c.1675C>G | p.Pro559Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4586/6463 | 1675/3402 | 559/1133 | chr16 | 22534658 | |||
| chr16:22534662 | TTCCACCC others(5): Show |
T | 2 | a0009 a0016 |
2 | HG00621.hp1 HG02040.hp2 |
disruptive_inframe_deletion | MODERATE | c.1692_1703delTCCACC others(6): Show |
p.Pro565_Ala568del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4603/6463 | 1692/3402 | 564/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534662 | ||
| chr16:22534710 | C | CCGAGCGT others(12): Show |
4 | a0009 a0011 a0016 others(1): Show |
4 | HG00621.hp1 HG01496.hp1 HG02040.hp2 others(1): Show |
frameshift_variant | HIGH | c.1728_1729insGAGCGT others(13): Show |
p.Phe577fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534710 | ||
| chr16:22534711 | CTTCCACC others(97): Show |
C | 1 | a0017 | 1 | HG02155.hp1 | frameshift_variant | HIGH | c.1729_1832del | p.Phe577fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | chr16 | 22534711 | |||
| chr16:22534729 | G | GATA | 4 | a0009 a0011 a0016 others(1): Show |
4 | HG00621.hp1 HG01496.hp1 HG02040.hp2 others(1): Show |
disruptive_inframe_insertion | MODERATE | c.1748_1749insAAT | p.Ile583dup | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4660/6463 | 1749/3402 | 583/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534729 | ||
| chr16:22534729 | G | GATAATCT others(110): Show |
2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
disruptive_inframe_insertion | MODERATE | c.1748_1749insAATCTC others(111): Show |
p.Ile583_Ser584insIl others(115): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4660/6463 | 1749/3402 | 583/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534729 | ||
| chr16:22534729 | GATCTCAA others(497): Show |
G | 1 | a0001 | 1 | HG00642.hp2 | conservative_inframe_deletion | MODERATE | c.1825_2328del | p.Tyr609_Arg776del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4736/6463 | 1825/3402 | 609/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534729 | ||
| chr16:22534773 | C | G | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.1790C>G | p.Pro597Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4701/6463 | 1790/3402 | 597/1133 | chr16 | 22534773 | |||
| chr16:22534808 | T | C | 6 | a0009 a0011 a0013 others(3): Show |
6 | HG00621.hp1 HG01496.hp1 HG01975.hp2 others(3): Show |
missense_variant | MODERATE | c.1825T>C | p.Tyr609His | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4736/6463 | 1825/3402 | 609/1133 | chr16 | 22534808 | |||
| chr16:22534814 | CTGAGCGT others(12): Show |
C | 2 | a0011 a0028 |
2 | HG01496.hp1 NA20300.hp1 |
frameshift_variant | HIGH | c.1832_1850delTGAGCG others(13): Show |
p.Leu611fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4743/6463 | 1832/3402 | 611/1133 | chr16 | 22534814 | |||
| chr16:22534815 | T | C | 4 | a0009 a0013 a0014 others(1): Show |
4 | HG00621.hp1 HG01975.hp2 HG01981.hp2 others(1): Show |
missense_variant | MODERATE | c.1832T>C | p.Leu611Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4743/6463 | 1832/3402 | 611/1133 | chr16 | 22534815 | |||
| chr16:22534826 | G | A | 1 | a0017 | 1 | HG02155.hp1 | missense_variant | MODERATE | c.1843G>A | p.Gly615Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4754/6463 | 1843/3402 | 615/1133 | chr16 | 22534826 | |||
| chr16:22534829 | T | G | 5 | a0009 a0013 a0014 others(2): Show |
5 | HG00621.hp1 HG01975.hp2 HG01981.hp2 others(2): Show |
missense_variant | MODERATE | c.1846T>G | p.Phe616Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4757/6463 | 1846/3402 | 616/1133 | chr16 | 22534829 | |||
| chr16:22534830 | T | G | 5 | a0009 a0013 a0014 others(2): Show |
5 | HG00621.hp1 HG01975.hp2 HG01981.hp2 others(2): Show |
missense_variant | MODERATE | c.1847T>G | p.Phe616Cys | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4758/6463 | 1847/3402 | 616/1133 | chr16 | 22534830 | |||
| chr16:22534842 | A | C | 7 | a0009 a0011 a0013 others(4): Show |
7 | HG00621.hp1 HG01496.hp1 HG01975.hp2 others(4): Show |
missense_variant | MODERATE | c.1859A>C | p.His620Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4770/6463 | 1859/3402 | 620/1133 | chr16 | 22534842 | |||
| chr16:22534848 | C | A | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.1865C>A | p.Pro622Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4776/6463 | 1865/3402 | 622/1133 | chr16 | 22534848 | |||
| chr16:22534848 | C | G | 5 | a0009 a0011 a0016 others(2): Show |
5 | HG00621.hp1 HG01496.hp1 HG02040.hp2 others(2): Show |
missense_variant | MODERATE | c.1865C>G | p.Pro622Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4776/6463 | 1865/3402 | 622/1133 | chr16 | 22534848 | |||
| chr16:22534848 | CGATGATA others(245): Show |
C | 2 | a0008 a0023 |
2 | HG00438.hp2 NA18948.hp1 |
conservative_inframe_deletion | MODERATE | c.1987_2238del | p.Glu663_Pro746del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4898/6463 | 1987/3402 | 663/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534848 | ||
| chr16:22534852 | GATA | G | 2 | a0011 a0028 |
2 | HG01496.hp1 NA20300.hp1 |
disruptive_inframe_deletion | MODERATE | c.1872_1874delAAT | p.Ile625del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4783/6463 | 1872/3402 | 624/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534852 | ||
| chr16:22534934 | C | T | 2 | a0011 a0028 |
2 | HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.1951C>T | p.His651Tyr | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4862/6463 | 1951/3402 | 651/1133 | chr16 | 22534934 | |||
| chr16:22534940 | CCGAGCGT others(12): Show |
C | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
frameshift_variant | HIGH | c.1959_1977delGAGCGT others(13): Show |
p.Val655fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534940 | ||
| chr16:22534941 | C | CTTCCACC others(97): Show |
1 | a0009 | 1 | HG00621.hp1 | frameshift_variant&stop_gained | HIGH | c.1958_1959insTTCCAC others(98): Show |
p.Val655fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | chr16 | 22534941 | |||
| chr16:22534941 | C | T | 2 | a0011 a0028 |
2 | HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.1958C>T | p.Pro653Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4869/6463 | 1958/3402 | 653/1133 | chr16 | 22534941 | |||
| chr16:22534946 | G | A | 1 | a0011 | 1 | HG01496.hp1 | missense_variant | MODERATE | c.1963G>A | p.Val655Ile | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4874/6463 | 1963/3402 | 655/1133 | chr16 | 22534946 | |||
| chr16:22534955 | G | T | 3 | a0009 a0011 a0028 |
3 | HG00621.hp1 HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.1972G>T | p.Gly658Cys | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4883/6463 | 1972/3402 | 658/1133 | chr16 | 22534955 | |||
| chr16:22534956 | G | T | 3 | a0009 a0011 a0028 |
3 | HG00621.hp1 HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.1973G>T | p.Gly658Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4884/6463 | 1973/3402 | 658/1133 | chr16 | 22534956 | |||
| chr16:22534968 | C | A | 3 | a0009 a0011 a0028 |
3 | HG00621.hp1 HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.1985C>A | p.Pro662His | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4896/6463 | 1985/3402 | 662/1133 | chr16 | 22534968 | |||
| chr16:22534970 | G | C | 7 | a0009 a0011 a0013 others(4): Show |
7 | HG00621.hp1 HG01496.hp1 HG01975.hp2 others(4): Show |
missense_variant | MODERATE | c.1987G>C | p.Glu663Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4898/6463 | 1987/3402 | 663/1133 | chr16 | 22534970 | |||
| chr16:22534970 | GAGCGGAT others(245): Show |
G | 1 | a0020 | 1 | HG03927.hp2 | disruptive_inframe_deletion | MODERATE | c.2286_2537del | p.Phe763_Pro846del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5197/6463 | 2286/3402 | 762/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534970 | ||
| chr16:22534974 | G | A | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.1991G>A | p.Arg664Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4902/6463 | 1991/3402 | 664/1133 | chr16 | 22534974 | |||
| chr16:22534974 | G | C | 3 | a0009 a0011 a0028 |
3 | HG00621.hp1 HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.1991G>C | p.Arg664Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4902/6463 | 1991/3402 | 664/1133 | chr16 | 22534974 | |||
| chr16:22534978 | GATA | G | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
disruptive_inframe_deletion | MODERATE | c.1998_2000delAAT | p.Ile667del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4909/6463 | 1998/3402 | 666/1133 | INFO_REALIGN_3_PRIME | chr16 | 22534978 | ||
| chr16:22535059 | A | C | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.2076A>C | p.Arg692Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4987/6463 | 2076/3402 | 692/1133 | chr16 | 22535059 | |||
| chr16:22535060 | C | T | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2077C>T | p.His693Tyr | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4988/6463 | 2077/3402 | 693/1133 | chr16 | 22535060 | |||
| chr16:22535067 | C | T | 3 | a0016 a0017 a0024 |
3 | HG02040.hp2 HG02155.hp1 NA19002.hp1 |
missense_variant | MODERATE | c.2084C>T | p.Pro695Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4995/6463 | 2084/3402 | 695/1133 | chr16 | 22535067 | |||
| chr16:22535081 | G | T | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2098G>T | p.Gly700Cys | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5009/6463 | 2098/3402 | 700/1133 | chr16 | 22535081 | |||
| chr16:22535082 | G | T | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2099G>T | p.Gly700Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5010/6463 | 2099/3402 | 700/1133 | chr16 | 22535082 | |||
| chr16:22535094 | C | A | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2111C>A | p.Pro704His | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5022/6463 | 2111/3402 | 704/1133 | chr16 | 22535094 | |||
| chr16:22535096 | C | G | 3 | a0009 a0011 a0028 |
3 | HG00621.hp1 HG01496.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.2113C>G | p.Gln705Glu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5024/6463 | 2113/3402 | 705/1133 | chr16 | 22535096 | |||
| chr16:22535100 | A | AGATGATA others(119): Show |
1 | a0025 | 1 | NA19043.hp1 | disruptive_inframe_insertion | MODERATE | c.2243_2368dupGGATGA others(120): Show |
p.Arg748_Gln789dup | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5280/6463 | 2369/3402 | 790/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535100 | ||
| chr16:22535100 | A | C | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2117A>C | p.Gln706Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5028/6463 | 2117/3402 | 706/1133 | chr16 | 22535100 | |||
| chr16:22535100 | A | G | 7 | a0009 a0011 a0013 others(4): Show |
7 | HG00621.hp1 HG01496.hp1 HG01975.hp2 others(4): Show |
missense_variant | MODERATE | c.2117A>G | p.Gln706Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5028/6463 | 2117/3402 | 706/1133 | chr16 | 22535100 | |||
| chr16:22535129 | G | A | 1 | a0026 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.2146G>A | p.Val716Ile | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5057/6463 | 2146/3402 | 716/1133 | chr16 | 22535129 | |||
| chr16:22535198 | G | GTCTGCGG others(132): Show |
1 | a0006 | 1 | HG00323.hp1 | frameshift_variant | HIGH | c.2263_2264insCTCCGA others(133): Show |
p.Leu755fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5175/6463 | 2264/3402 | 755/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535198 | ||
| chr16:22535222 | C | G | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2239C>G | p.Gln747Glu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5150/6463 | 2239/3402 | 747/1133 | chr16 | 22535222 | |||
| chr16:22535225 | C | T | 1 | a0003 | 1 | HG03927.hp1 | missense_variant | MODERATE | c.2242C>T | p.Arg748Trp | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5153/6463 | 2242/3402 | 748/1133 | chr16 | 22535225 | |||
| chr16:22535226 | G | A | 2 | a0009 a0028 |
2 | HG00621.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.2243G>A | p.Arg748Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5154/6463 | 2243/3402 | 748/1133 | chr16 | 22535226 | |||
| chr16:22535324 | G | GTCTGCGG others(6): Show |
5 | a0004 a0005 a0010 others(2): Show |
7 | HG00642.hp1 HG01496.hp2 HG02148.hp2 others(4): Show |
frameshift_variant | HIGH | c.2350_2351insAGCTTC others(7): Show |
p.Gly784fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5262/6463 | 2351/3402 | 784/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535324 | ||
| chr16:22535337 | G | A | 1 | a0002 | 3 | HG01975.hp1 HG01981.hp1 HG02148.hp1 |
missense_variant | MODERATE | c.2354G>A | p.Arg785His | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5265/6463 | 2354/3402 | 785/1133 | chr16 | 22535337 | |||
| chr16:22535352 | A | G | 8 | a0004 a0005 a0006 others(5): Show |
10 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(7): Show |
missense_variant | MODERATE | c.2369A>G | p.Gln790Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5280/6463 | 2369/3402 | 790/1133 | chr16 | 22535352 | |||
| chr16:22535437 | A | C | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.2454A>C | p.Arg818Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5365/6463 | 2454/3402 | 818/1133 | chr16 | 22535437 | |||
| chr16:22535450 | G | GTCTGCGG others(6): Show |
1 | a0009 | 1 | HG00621.hp1 | frameshift_variant | HIGH | c.2476_2477insAGCTTC others(7): Show |
p.Gly826fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5388/6463 | 2477/3402 | 826/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535450 | ||
| chr16:22535478 | G | A | 1 | a0028 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.2495G>A | p.Arg832Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5406/6463 | 2495/3402 | 832/1133 | chr16 | 22535478 | |||
| chr16:22535519 | C | T | 1 | a0022 | 1 | NA18522.hp2 | missense_variant | MODERATE | c.2536C>T | p.Pro846Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5447/6463 | 2536/3402 | 846/1133 | chr16 | 22535519 | |||
| chr16:22535571 | CGAGCGTC others(6): Show |
C | 4 | a0006 a0009 a0012 others(1): Show |
4 | HG00323.hp1 HG00621.hp1 HG01496.hp2 others(1): Show |
frameshift_variant | HIGH | c.2603_2615delAGCGTC others(7): Show |
p.Glu868fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5514/6463 | 2603/3402 | 868/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535571 | ||
| chr16:22535584 | G | GGAGCGTC others(119): Show |
1 | a0003 | 2 | HG02622.hp1 HG03927.hp1 |
disruptive_inframe_insertion | MODERATE | c.2886_3011dupGGATGA others(120): Show |
p.Ala1004_Asp1005ins others(126): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5923/6463 | 3012/3402 | 1004/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535584 | ||
| chr16:22535584 | G | GGGCCGCT others(106): Show |
4 | a0004 a0005 a0010 others(1): Show |
6 | HG00642.hp1 HG02148.hp2 HG02602.hp2 others(3): Show |
frameshift_variant | HIGH | c.2602_2603insGCCGCT others(107): Show |
p.Glu868fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5514/6463 | 2603/3402 | 868/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535584 | ||
| chr16:22535584 | GGAGCGTC others(245): Show |
G | 1 | a0001 | 1 | HG00621.hp2 | disruptive_inframe_deletion | MODERATE | c.2760_3011del | p.Asp921_Ala1004del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5671/6463 | 2760/3402 | 920/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535584 | ||
| chr16:22535589 | G | T | 2 | a0016 a0017 |
2 | HG02040.hp2 HG02155.hp1 |
missense_variant | MODERATE | c.2606G>T | p.Arg869Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5517/6463 | 2606/3402 | 869/1133 | chr16 | 22535589 | |||
| chr16:22535660 | C | T | 1 | a0028 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.2677C>T | p.Leu893Phe | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5588/6463 | 2677/3402 | 893/1133 | chr16 | 22535660 | |||
| chr16:22535702 | A | C | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.2719A>C | p.Thr907Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5630/6463 | 2719/3402 | 907/1133 | chr16 | 22535702 | |||
| chr16:22535705 | C | T | 1 | a0007 | 1 | HG00323.hp2 | missense_variant | MODERATE | c.2722C>T | p.Pro908Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5633/6463 | 2722/3402 | 908/1133 | chr16 | 22535705 | |||
| chr16:22535710 | C | CGAGCGTC others(6): Show |
1 | a0028 | 1 | NA20300.hp1 | frameshift_variant | HIGH | c.2729_2741dupAGCGTC others(7): Show |
p.Pro915fs | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5653/6463 | 2742/3402 | 914/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535710 | ||
| chr16:22535742 | C | T | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.2759C>T | p.Ala920Val | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5670/6463 | 2759/3402 | 920/1133 | chr16 | 22535742 | |||
| chr16:22535771 | C | A | 2 | a0005 a0012 |
2 | HG01496.hp2 NA19082.hp2 |
missense_variant | MODERATE | c.2788C>A | p.Arg930Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5699/6463 | 2788/3402 | 930/1133 | chr16 | 22535771 | |||
| chr16:22535787 | TTCCACCC others(5): Show |
T | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
disruptive_inframe_deletion | MODERATE | c.2817_2828delTCCACC others(6): Show |
p.Pro940_Ala943del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5728/6463 | 2817/3402 | 939/1133 | INFO_REALIGN_3_PRIME | chr16 | 22535787 | ||
| chr16:22535828 | A | C | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.2845A>C | p.Thr949Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5756/6463 | 2845/3402 | 949/1133 | chr16 | 22535828 | |||
| chr16:22535837 | G | A | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.2854G>A | p.Glu952Lys | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5765/6463 | 2854/3402 | 952/1133 | chr16 | 22535837 | |||
| chr16:22535886 | C | T | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.2903C>T | p.Thr968Ile | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5814/6463 | 2903/3402 | 968/1133 | chr16 | 22535886 | |||
| chr16:22535979 | C | T | 2 | a0013 a0014 |
2 | HG01975.hp2 HG01981.hp2 |
missense_variant | MODERATE | c.2996C>T | p.Pro999Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5907/6463 | 2996/3402 | 999/1133 | chr16 | 22535979 | |||
| chr16:22536111 | G | A | 1 | a0021 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.3128G>A | p.Arg1043Gln | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 6039/6463 | 3128/3402 | 1043/1133 | chr16 | 22536111 | |||
| chr16:22536189 | C | G | 3 | a0004 a0006 a0010 |
3 | HG00323.hp1 HG00642.hp1 HG02148.hp2 |
missense_variant | MODERATE | c.3206C>G | p.Pro1069Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 6117/6463 | 3206/3402 | 1069/1133 | chr16 | 22536189 | |||
| chr16:22536267 | CACCCGAA others(80): Show |
C | 1 | a0009 | 1 | HG00621.hp1 | conservative_inframe_deletion | MODERATE | c.3307_3393delGTCGGT others(81): Show |
p.Val1103_Arg1131del | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 6218/6463 | 3307/3402 | 1103/1133 | INFO_REALIGN_3_PRIME | chr16 | 22536267 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:22513831 | A | C | 4 | a0013c0030 a0014c0031 a0021c0029 others(1): Show |
4 | HG01975.hp2 HG01981.hp2 NA18522.hp1 others(1): Show |
synonymous_variant | LOW | c.30A>C | p.Pro10Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 2941/6463 | 30/3402 | 10/1133 | chr16 | 22513831 | |||
| chr16:22523897 | G | A | 1 | a0009c0004 | 1 | HG00621.hp1 | synonymous_variant | LOW | c.198G>A | p.Ala66Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/7 | 3109/6463 | 198/3402 | 66/1133 | chr16 | 22523897 | |||
| chr16:22527598 | A | G | 1 | a0020c0028 | 1 | HG03927.hp2 | synonymous_variant | LOW | c.282A>G | p.Arg94Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 3/7 | 3193/6463 | 282/3402 | 94/1133 | chr16 | 22527598 | |||
| chr16:22527613 | A | G | 1 | a0025c0032 | 1 | NA19043.hp1 | synonymous_variant | LOW | c.297A>G | p.Gly99Gly | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 3/7 | 3208/6463 | 297/3402 | 99/1133 | chr16 | 22527613 | |||
| chr16:22532078 | G | A | 1 | a0019c0017 | 1 | HG03834.hp1 | synonymous_variant | LOW | c.564G>A | p.Ala188Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 5/7 | 3475/6463 | 564/3402 | 188/1133 | chr16 | 22532078 | |||
| chr16:22532096 | A | G | 2 | a0013c0030 a0014c0031 |
2 | HG01975.hp2 HG01981.hp2 |
synonymous_variant | LOW | c.582A>G | p.Arg194Arg | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 5/7 | 3493/6463 | 582/3402 | 194/1133 | chr16 | 22532096 | |||
| chr16:22533784 | C | T | 1 | a0025c0032 | 1 | NA19043.hp1 | synonymous_variant | LOW | c.801C>T | p.Pro267Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3712/6463 | 801/3402 | 267/1133 | chr16 | 22533784 | |||
| chr16:22533898 | C | T | 1 | a0026c0021 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.915C>T | p.Pro305Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3826/6463 | 915/3402 | 305/1133 | chr16 | 22533898 | |||
| chr16:22533955 | T | C | 3 | a0013c0030 a0014c0031 a0026c0021 |
3 | HG01975.hp2 HG01981.hp2 NA19043.hp2 |
synonymous_variant | LOW | c.972T>C | p.Pro324Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3883/6463 | 972/3402 | 324/1133 | chr16 | 22533955 | |||
| chr16:22533988 | G | A | 6 | a0004c0025 a0004c0026 a0005c0005 others(3): Show |
6 | HG00323.hp1 HG00642.hp1 HG02040.hp2 others(3): Show |
synonymous_variant | LOW | c.1005G>A | p.Ala335Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3916/6463 | 1005/3402 | 335/1133 | chr16 | 22533988 | |||
| chr16:22534018 | T | C | 2 | a0021c0029 a0028c0027 |
2 | NA18522.hp1 NA20300.hp1 |
synonymous_variant | LOW | c.1035T>C | p.Cys345Cys | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3946/6463 | 1035/3402 | 345/1133 | chr16 | 22534018 | |||
| chr16:22534021 | G | A | 14 | a0004c0025 a0004c0026 a0005c0005 others(11): Show |
14 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(11): Show |
synonymous_variant | LOW | c.1038G>A | p.Leu346Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3949/6463 | 1038/3402 | 346/1133 | chr16 | 22534021 | |||
| chr16:22534045 | T | A | 1 | a0014c0031 | 1 | HG01981.hp2 | synonymous_variant | LOW | c.1062T>A | p.Ala354Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3973/6463 | 1062/3402 | 354/1133 | chr16 | 22534045 | |||
| chr16:22534048 | A | C | 1 | a0014c0031 | 1 | HG01981.hp2 | synonymous_variant | LOW | c.1065A>C | p.Leu355Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3976/6463 | 1065/3402 | 355/1133 | chr16 | 22534048 | |||
| chr16:22534069 | G | A | 1 | a0026c0021 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1086G>A | p.Ala362Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 3997/6463 | 1086/3402 | 362/1133 | chr16 | 22534069 | |||
| chr16:22534105 | C | G | 1 | a0026c0021 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1122C>G | p.Leu374Leu | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4033/6463 | 1122/3402 | 374/1133 | chr16 | 22534105 | |||
| chr16:22534111 | C | G | 1 | a0026c0021 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1128C>G | p.Pro376Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4039/6463 | 1128/3402 | 376/1133 | chr16 | 22534111 | |||
| chr16:22534126 | G | A | 1 | a0017c0018 | 1 | HG02155.hp1 | synonymous_variant | LOW | c.1143G>A | p.Ala381Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4054/6463 | 1143/3402 | 381/1133 | chr16 | 22534126 | |||
| chr16:22534219 | C | T | 1 | a0026c0021 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1236C>T | p.Ala412Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4147/6463 | 1236/3402 | 412/1133 | chr16 | 22534219 | |||
| chr16:22534252 | G | A | 1 | a0004c0025 | 1 | NA19057.hp2 | synonymous_variant | LOW | c.1269G>A | p.Ala423Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4180/6463 | 1269/3402 | 423/1133 | chr16 | 22534252 | |||
| chr16:22534345 | T | C | 18 | a0001c0001 a0004c0025 a0004c0026 others(15): Show |
18 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(15): Show |
synonymous_variant | LOW | c.1362T>C | p.Ala454Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4273/6463 | 1362/3402 | 454/1133 | chr16 | 22534345 | |||
| chr16:22534618 | G | A | 2 | a0013c0030 a0014c0031 |
2 | HG01975.hp2 HG01981.hp2 |
synonymous_variant | LOW | c.1635G>A | p.Ala545Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4546/6463 | 1635/3402 | 545/1133 | chr16 | 22534618 | |||
| chr16:22534828 | A | G | 5 | a0009c0004 a0013c0030 a0014c0031 others(2): Show |
5 | HG00621.hp1 HG01975.hp2 HG01981.hp2 others(2): Show |
synonymous_variant | LOW | c.1845A>G | p.Gly615Gly | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4756/6463 | 1845/3402 | 615/1133 | chr16 | 22534828 | |||
| chr16:22534954 | G | A | 3 | a0009c0004 a0011c0008 a0028c0027 |
3 | HG00621.hp1 HG01496.hp1 NA20300.hp1 |
synonymous_variant | LOW | c.1971G>A | p.Gly657Gly | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4882/6463 | 1971/3402 | 657/1133 | chr16 | 22534954 | |||
| chr16:22535020 | C | T | 1 | a0002c0016 | 1 | HG02148.hp1 | synonymous_variant | LOW | c.2037C>T | p.Phe679Phe | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4948/6463 | 2037/3402 | 679/1133 | chr16 | 22535020 | |||
| chr16:22535080 | G | A | 2 | a0016c0024 a0017c0018 |
2 | HG02040.hp2 HG02155.hp1 |
synonymous_variant | LOW | c.2097G>A | p.Gly699Gly | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5008/6463 | 2097/3402 | 699/1133 | chr16 | 22535080 | |||
| chr16:22535320 | G | C | 1 | a0026c0021 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.2337G>C | p.Pro779Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5248/6463 | 2337/3402 | 779/1133 | chr16 | 22535320 | |||
| chr16:22535521 | T | C | 14 | a0004c0025 a0004c0026 a0005c0005 others(11): Show |
14 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(11): Show |
synonymous_variant | LOW | c.2538T>C | p.Pro846Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5449/6463 | 2538/3402 | 846/1133 | chr16 | 22535521 | |||
| chr16:22535794 | C | G | 2 | a0002c0003 a0002c0016 |
3 | HG01975.hp1 HG01981.hp1 HG02148.hp1 |
synonymous_variant | LOW | c.2811C>G | p.Pro937Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5722/6463 | 2811/3402 | 937/1133 | chr16 | 22535794 | |||
| chr16:22535836 | C | T | 1 | a0011c0008 | 1 | HG01496.hp1 | synonymous_variant | LOW | c.2853C>T | p.Ala951Ala | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5764/6463 | 2853/3402 | 951/1133 | chr16 | 22535836 | |||
| chr16:22535977 | G | T | 2 | a0013c0030 a0014c0031 |
2 | HG01975.hp2 HG01981.hp2 |
synonymous_variant | LOW | c.2994G>T | p.Gly998Gly | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5905/6463 | 2994/3402 | 998/1133 | chr16 | 22535977 | |||
| chr16:22536265 | A | G | 2 | a0013c0030 a0014c0031 |
2 | HG01975.hp2 HG01981.hp2 |
synonymous_variant | LOW | c.3282A>G | p.Ser1094Ser | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 6193/6463 | 3282/3402 | 1094/1133 | chr16 | 22536265 | |||
| chr16:22536271 | C | G | 2 | a0013c0030 a0014c0031 |
2 | HG01975.hp2 HG01981.hp2 |
synonymous_variant | LOW | c.3288C>G | p.Pro1096Pro | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 6199/6463 | 3288/3402 | 1096/1133 | chr16 | 22536271 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:22510920 | G | A | 1 | a0026c0021t0004 | 1 | NA19043.hp2 | 5_prime_UTR_variant | MODIFIER | c.-2882G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 2882 | chr16 | 22510920 | ||||||
| chr16:22510937 | C | A | 1 | a0003c0002t0005 | 1 | HG02622.hp1 | 5_prime_UTR_variant | MODIFIER | c.-2865C>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 2865 | chr16 | 22510937 | ||||||
| chr16:22511123 | T | G | 1 | a0003c0002t0006 | 1 | NA20300.hp2 | 5_prime_UTR_variant | MODIFIER | c.-2679T>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 2679 | chr16 | 22511123 | ||||||
| chr16:22511538 | T | C | 2 | a0013c0030t0007 a0014c0031t0008 |
2 | HG01975.hp2 HG01981.hp2 |
5_prime_UTR_variant | MODIFIER | c.-2264T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 2264 | chr16 | 22511538 | ||||||
| chr16:22512049 | CAACT | C | 2 | a0013c0030t0007 a0014c0031t0008 |
2 | HG01975.hp2 HG01981.hp2 |
5_prime_UTR_variant | MODIFIER | c.-1747_-1744delACTA | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1744 | INFO_REALIGN_3_PRIME | chr16 | 22512049 | |||||
| chr16:22512106 | A | C | 1 | a0014c0031t0008 | 1 | HG01981.hp2 | 5_prime_UTR_variant | MODIFIER | c.-1696A>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1696 | chr16 | 22512106 | ||||||
| chr16:22512135 | C | G | 2 | a0013c0030t0007 a0014c0031t0008 |
2 | HG01975.hp2 HG01981.hp2 |
5_prime_UTR_variant | MODIFIER | c.-1667C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1667 | chr16 | 22512135 | ||||||
| chr16:22512338 | T | C | 10 | a0003c0002t0005 a0003c0010t0003 a0005c0005t0011 others(7): Show |
10 | HG00621.hp1 HG01496.hp2 HG02155.hp1 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-1464T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1464 | chr16 | 22512338 | ||||||
| chr16:22512393 | T | G | 2 | a0003c0010t0003 a0020c0028t0003 |
2 | HG03927.hp1 HG03927.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-1409T>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | chr16 | 22512393 | |||||||
| chr16:22512416 | C | T | 1 | a0001c0001t0017 | 1 | HG00438.hp1 | 5_prime_UTR_variant | MODIFIER | c.-1386C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1386 | chr16 | 22512416 | ||||||
| chr16:22512576 | A | C | 1 | a0025c0032t0014 | 1 | NA19043.hp1 | 5_prime_UTR_variant | MODIFIER | c.-1226A>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1226 | chr16 | 22512576 | ||||||
| chr16:22512712 | C | G | 1 | a0025c0032t0014 | 1 | NA19043.hp1 | 5_prime_UTR_variant | MODIFIER | c.-1090C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1090 | chr16 | 22512712 | ||||||
| chr16:22512735 | G | A | 1 | a0004c0026t0015 | 1 | HG02148.hp2 | 5_prime_UTR_variant | MODIFIER | c.-1067G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1067 | chr16 | 22512735 | ||||||
| chr16:22512762 | GC | G | 2 | a0011c0008t0016 a0017c0018t0009 |
2 | HG01496.hp1 HG02155.hp1 |
5_prime_UTR_variant | MODIFIER | c.-1037delC | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 1037 | INFO_REALIGN_3_PRIME | chr16 | 22512762 | |||||
| chr16:22512772 | C | T | 1 | a0028c0027t0013 | 1 | NA20300.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-1030C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | chr16 | 22512772 | |||||||
| chr16:22512809 | G | A | 1 | a0009c0004t0010 | 1 | HG00621.hp1 | 5_prime_UTR_variant | MODIFIER | c.-993G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 993 | chr16 | 22512809 | ||||||
| chr16:22512884 | C | T | 6 | a0004c0025t0002 a0004c0026t0015 a0010c0023t0002 others(3): Show |
6 | HG00642.hp1 HG02040.hp2 HG02148.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-918C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 918 | chr16 | 22512884 | ||||||
| chr16:22513096 | GT | G | 2 | a0013c0030t0007 a0014c0031t0008 |
2 | HG01975.hp2 HG01981.hp2 |
5_prime_UTR_variant | MODIFIER | c.-703delT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 703 | INFO_REALIGN_3_PRIME | chr16 | 22513096 | |||||
| chr16:22513749 | TA | T | 2 | a0014c0031t0008 a0025c0032t0014 |
2 | HG01981.hp2 NA19043.hp1 |
5_prime_UTR_variant | MODIFIER | c.-50delA | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 50 | INFO_REALIGN_3_PRIME | chr16 | 22513749 | |||||
| chr16:22513750 | A | T | 2 | a0013c0030t0007 a0021c0029t0001 |
2 | HG01975.hp2 NA18522.hp1 |
5_prime_UTR_variant | MODIFIER | c.-52A>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/7 | 52 | chr16 | 22513750 | ||||||
| chr16:22536453 | AAAAAC | A | 3 | a0012c0019t0012 a0013c0030t0007 a0014c0031t0008 |
3 | HG01496.hp2 HG01975.hp2 HG01981.hp2 |
3_prime_UTR_variant | MODIFIER | c.*79_*83delAAAAC | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 79 | INFO_REALIGN_3_PRIME | chr16 | 22536453 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:22514096 | T | C | 1 | a0017c0018t0009g0002 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.120+175T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514096 | |||||||
| chr16:22514188 | C | T | 1 | a0003c0002t0006g0046 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.120+267C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514188 | |||||||
| chr16:22514213 | T | G | 11 | a0003c0002t0005g0003 a0004c0025t0002g0008 a0004c0026t0015g0005 others(8): Show |
11 | HG00323.hp1 HG00642.hp1 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.120+292T>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514213 | |||||||
| chr16:22514498 | G | C | 2 | a0003c0010t0003g0014 a0020c0028t0003g0015 |
2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.120+577G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514498 | |||||||
| chr16:22514506 | C | CA | 7 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0003c0002t0005g0003 others(4): Show |
8 | HG00099.hp1 HG02602.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.120+603dupA | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514506 | ||||||
| chr16:22514506 | CA | C | 4 | a0001c0001t0001g0044 a0002c0003t0001g0045 a0014c0031t0008g0013 others(1): Show |
4 | HG01975.hp1 HG01981.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.120+603delA | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514506 | ||||||
| chr16:22514801 | A | T | 1 | a0009c0004t0010g0043 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.120+880A>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514801 | |||||||
| chr16:22514806 | T | C | 1 | a0021c0029t0001g0004 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.120+885T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514806 | |||||||
| chr16:22514835 | TAC | T | 6 | a0001c0001t0001g0026 a0001c0001t0017g0028 a0003c0010t0003g0014 others(3): Show |
6 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+978_120+979del others(2): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACAC | T | 7 | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0044 others(4): Show |
7 | HG00099.hp1 HG01981.hp1 HG02148.hp1 others(4): Show |
intron_variant | MODIFIER | c.120+976_120+979del others(4): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACAC | T | 3 | a0001c0001t0001g0034 a0005c0005t0011g0019 a0015c0007t0001g0035 |
3 | HG00621.hp2 HG02040.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.120+974_120+979del others(6): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(1): Show |
T | 2 | a0001c0001t0001g0036 a0002c0003t0001g0045 |
2 | HG01975.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.120+972_120+979del others(8): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(3): Show |
T | 1 | a0001c0001t0001g0037 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.120+970_120+979del others(10): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(7): Show |
T | 2 | a0018c0020t0002g0041 a0022c0013t0001g0038 |
2 | HG02622.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.120+966_120+979del others(14): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(9): Show |
T | 2 | a0011c0008t0016g0039 a0017c0018t0009g0002 |
2 | HG01496.hp1 HG02155.hp1 |
intron_variant | MODIFIER | c.120+964_120+979del others(16): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(11): Show |
T | 4 | a0012c0019t0012g0010 a0021c0029t0001g0004 a0024c0015t0001g0020 others(1): Show |
4 | HG01496.hp2 NA18522.hp1 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.120+962_120+979del others(18): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(19): Show |
T | 2 | a0009c0004t0010g0043 a0025c0032t0014g0012 |
2 | HG00621.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.120+954_120+979del others(26): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(23): Show |
T | 1 | a0026c0021t0004g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.120+950_120+979del others(30): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514835 | TACACACA others(43): Show |
T | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.120+930_120+979del others(50): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22514835 | ||||||
| chr16:22514891 | C | T | 1 | a0018c0020t0002g0041 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.120+970C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514891 | |||||||
| chr16:22514895 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.120+974C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22514895 | |||||||
| chr16:22515045 | A | G | 1 | a0019c0017t0001g0025 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.120+1124A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515045 | |||||||
| chr16:22515332 | C | T | 1 | a0028c0027t0013g0040 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.120+1411C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515332 | |||||||
| chr16:22515577 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.120+1656G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515577 | |||||||
| chr16:22515787 | C | A | 1 | a0024c0015t0001g0020 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.120+1866C>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515787 | |||||||
| chr16:22515831 | G | T | 2 | a0003c0010t0003g0014 a0020c0028t0003g0015 |
2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.120+1910G>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515831 | |||||||
| chr16:22515863 | G | A | 1 | a0017c0018t0009g0002 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.120+1942G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515863 | |||||||
| chr16:22515885 | T | C | 31 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 others(28): Show |
32 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(29): Show |
intron_variant | MODIFIER | c.120+1964T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22515885 | |||||||
| chr16:22516405 | G | A | 1 | a0001c0001t0001g0033 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.120+2484G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516405 | |||||||
| chr16:22516448 | G | A | 1 | a0018c0020t0002g0041 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.120+2527G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516448 | |||||||
| chr16:22516508 | G | A | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.120+2587G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516508 | |||||||
| chr16:22516543 | G | A | 2 | a0003c0010t0003g0014 a0020c0028t0003g0015 |
2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.120+2622G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516543 | |||||||
| chr16:22516582 | G | A | 1 | a0009c0004t0010g0043 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.120+2661G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516582 | |||||||
| chr16:22516695 | C | T | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.120+2774C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516695 | |||||||
| chr16:22516812 | G | A | 8 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(5): Show |
8 | HG00323.hp1 HG00642.hp1 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.120+2891G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22516812 | |||||||
| chr16:22517276 | C | T | 1 | a0026c0021t0004g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.120+3355C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22517276 | |||||||
| chr16:22517531 | CT | C | 14 | a0002c0003t0001g0030 a0003c0002t0005g0003 a0003c0010t0003g0014 others(11): Show |
14 | HG00323.hp1 HG00642.hp1 HG01496.hp2 others(11): Show |
intron_variant | MODIFIER | c.120+3632delT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22517531 | ||||||
| chr16:22517627 | G | A | 1 | a0008c0011t0001g0029 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.120+3706G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22517627 | |||||||
| chr16:22517685 | C | A | 1 | a0012c0019t0012g0010 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.120+3764C>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22517685 | |||||||
| chr16:22517760 | C | T | 1 | a0012c0019t0012g0010 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.120+3839C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22517760 | |||||||
| chr16:22517908 | T | TTTTG | 13 | a0002c0003t0001g0030 a0002c0016t0001g0031 a0004c0025t0002g0008 others(10): Show |
13 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(10): Show |
intron_variant | MODIFIER | c.120+3993_120+3996d others(6): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22517908 | ||||||
| chr16:22517931 | T | G | 7 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(4): Show |
7 | HG00323.hp1 HG00642.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.120+4010T>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22517931 | |||||||
| chr16:22518156 | G | A | 1 | a0001c0001t0001g0033 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.120+4235G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22518156 | |||||||
| chr16:22519003 | T | C | 1 | a0018c0020t0002g0041 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.121-4817T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519003 | |||||||
| chr16:22519128 | T | C | 7 | a0001c0001t0001g0021 a0002c0003t0001g0030 a0002c0016t0001g0031 others(4): Show |
7 | HG00621.hp1 HG01496.hp2 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.121-4692T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519128 | |||||||
| chr16:22519186 | G | A | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-4634G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519186 | |||||||
| chr16:22519342 | C | T | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-4478C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519342 | |||||||
| chr16:22519629 | T | C | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-4191T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519629 | |||||||
| chr16:22519657 | T | TG | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-4162dupG | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22519657 | ||||||
| chr16:22519797 | T | C | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-4023T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519797 | |||||||
| chr16:22519884 | T | C | 1 | a0004c0026t0015g0005 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.121-3936T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22519884 | |||||||
| chr16:22519890 | T | TC | 3 | a0001c0001t0001g0033 a0003c0010t0003g0014 a0020c0028t0003g0015 |
3 | HG00642.hp2 HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.121-3925dupC | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22519890 | ||||||
| chr16:22519902 | C | CCCCCT | 7 | a0001c0001t0001g0033 a0004c0025t0002g0008 a0010c0023t0002g0007 others(4): Show |
7 | HG00642.hp1 HG00642.hp2 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.121-3913_121-3909d others(7): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22519902 | ||||||
| chr16:22519908 | C | CCCCTCCC others(3): Show |
1 | a0006c0022t0001g0009 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.121-3909_121-3908i others(12): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22519908 | ||||||
| chr16:22520479 | C | CT | 7 | a0001c0001t0001g0001 a0001c0001t0001g0036 a0002c0003t0001g0030 others(4): Show |
8 | HG00438.hp2 HG01981.hp1 HG02155.hp2 others(5): Show |
intron_variant | MODIFIER | c.121-3316dupT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22520479 | ||||||
| chr16:22520675 | A | AT | 16 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0023 others(13): Show |
17 | HG00438.hp2 HG00621.hp2 HG01981.hp1 others(14): Show |
intron_variant | MODIFIER | c.121-3112dupT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22520675 | ||||||
| chr16:22520675 | A | ATT | 4 | a0001c0001t0001g0026 a0001c0001t0017g0028 a0003c0010t0003g0014 others(1): Show |
4 | HG00099.hp2 HG00438.hp1 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.121-3113_121-3112d others(4): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22520675 | ||||||
| chr16:22520675 | ATTTTTTT others(4): Show |
A | 5 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(2): Show |
5 | HG00323.hp1 HG00642.hp1 HG02040.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-3122_121-3112d others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22520675 | ||||||
| chr16:22520729 | C | T | 1 | a0012c0019t0012g0010 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.121-3091C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22520729 | |||||||
| chr16:22520759 | C | T | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-3061C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22520759 | |||||||
| chr16:22520777 | G | A | 5 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(2): Show |
5 | HG00323.hp1 HG00642.hp1 HG02040.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-3043G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22520777 | |||||||
| chr16:22520784 | G | A | 1 | a0025c0032t0014g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.121-3036G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22520784 | |||||||
| chr16:22520815 | C | G | 1 | a0004c0026t0015g0005 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.121-3005C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22520815 | |||||||
| chr16:22520831 | T | C | 15 | a0001c0001t0001g0033 a0004c0025t0002g0008 a0004c0026t0015g0005 others(12): Show |
15 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(12): Show |
intron_variant | MODIFIER | c.121-2989T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22520831 | |||||||
| chr16:22521024 | G | A | 1 | a0009c0004t0010g0043 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.121-2796G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22521024 | |||||||
| chr16:22521074 | T | TTTTA | 8 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0036 others(5): Show |
8 | HG00438.hp1 HG00621.hp2 HG02155.hp2 others(5): Show |
intron_variant | MODIFIER | c.121-2714_121-2711d others(6): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521074 | ||||||
| chr16:22521074 | T | TTTTATTT others(1): Show |
4 | a0001c0001t0001g0033 a0013c0030t0007g0011 a0014c0031t0008g0013 others(1): Show |
4 | HG00642.hp2 HG01975.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.121-2718_121-2711d others(10): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521074 | ||||||
| chr16:22521074 | T | TTTTATTT others(9): Show |
6 | a0004c0026t0015g0005 a0006c0022t0001g0009 a0010c0023t0002g0007 others(3): Show |
6 | HG00323.hp1 HG00642.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-2726_121-2711d others(18): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521074 | ||||||
| chr16:22521074 | T | TTTTATTT others(13): Show |
1 | a0004c0025t0002g0008 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.121-2730_121-2711d others(22): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521074 | ||||||
| chr16:22521074 | TTTTATTT others(5): Show |
T | 1 | a0009c0004t0010g0043 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.121-2722_121-2711d others(14): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521074 | ||||||
| chr16:22521216 | C | T | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-2604C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22521216 | |||||||
| chr16:22521218 | A | G | 10 | a0001c0001t0001g0033 a0004c0025t0002g0008 a0004c0026t0015g0005 others(7): Show |
10 | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(7): Show |
intron_variant | MODIFIER | c.121-2602A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22521218 | |||||||
| chr16:22521242 | G | C | 10 | a0001c0001t0001g0033 a0004c0025t0002g0008 a0004c0026t0015g0005 others(7): Show |
10 | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(7): Show |
intron_variant | MODIFIER | c.121-2578G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22521242 | |||||||
| chr16:22521873 | A | G | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-1947A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22521873 | |||||||
| chr16:22521876 | A | AT | 12 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 others(9): Show |
12 | HG00099.hp2 HG00323.hp2 HG01981.hp1 others(9): Show |
intron_variant | MODIFIER | c.121-1906dupT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | A | ATT | 4 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0011c0008t0016g0039 others(1): Show |
5 | HG00621.hp2 HG01496.hp1 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-1907_121-1906d others(4): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | A | ATTTTTTT others(6): Show |
1 | a0001c0001t0001g0044 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.121-1918_121-1906d others(15): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | ATTTTTTT others(3): Show |
A | 5 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(2): Show |
5 | HG00323.hp1 HG02040.hp2 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-1915_121-1906d others(12): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | ATTTTTTT others(4): Show |
A | 1 | a0017c0018t0009g0002 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.121-1916_121-1906d others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | ATTTTTTT others(9): Show |
A | 1 | a0001c0001t0017g0028 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.121-1921_121-1906d others(18): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | ATTTTTTT others(16): Show |
A | 1 | a0015c0007t0001g0035 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.121-1928_121-1906d others(25): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | ATTTTTTT others(19): Show |
A | 1 | a0001c0001t0001g0033 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.121-1931_121-1906d others(28): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22521876 | ATTTTTTT others(20): Show |
A | 1 | a0028c0027t0013g0040 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.121-1932_121-1906d others(29): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22521876 | ||||||
| chr16:22522116 | C | G | 1 | a0014c0031t0008g0013 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.121-1704C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22522116 | |||||||
| chr16:22522173 | G | C | 1 | a0016c0024t0002g0006 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.121-1647G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22522173 | |||||||
| chr16:22522261 | AT | A | 6 | a0001c0001t0001g0037 a0003c0002t0005g0003 a0009c0004t0010g0043 others(3): Show |
6 | HG00621.hp1 HG01496.hp2 HG02155.hp1 others(3): Show |
intron_variant | MODIFIER | c.121-1544delT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22522261 | ||||||
| chr16:22522729 | AAAGAT | A | 3 | a0009c0004t0010g0043 a0017c0018t0009g0002 a0018c0020t0002g0041 |
3 | HG00621.hp1 HG02155.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.121-1083_121-1079d others(7): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | 22522729 | ||||||
| chr16:22523176 | G | C | 1 | a0021c0029t0001g0004 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.121-644G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22523176 | |||||||
| chr16:22523224 | T | C | 11 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(8): Show |
11 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(8): Show |
intron_variant | MODIFIER | c.121-596T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22523224 | |||||||
| chr16:22523267 | G | A | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.121-553G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22523267 | |||||||
| chr16:22523427 | G | A | 1 | a0001c0001t0001g0037 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.121-393G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22523427 | |||||||
| chr16:22523494 | T | C | 9 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(6): Show |
9 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.121-326T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 1/6 | chr16 | 22523494 | |||||||
| chr16:22523974 | G | T | 9 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(6): Show |
9 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.249+26G>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22523974 | |||||||
| chr16:22524196 | G | C | 1 | a0025c0032t0014g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.249+248G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22524196 | |||||||
| chr16:22524340 | A | G | 1 | a0022c0013t0001g0038 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.249+392A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22524340 | |||||||
| chr16:22524554 | C | T | 9 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0006c0022t0001g0009 others(6): Show |
9 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.249+606C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22524554 | |||||||
| chr16:22524578 | A | C | 1 | a0003c0002t0005g0003 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.249+630A>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22524578 | |||||||
| chr16:22524970 | T | C | 1 | a0028c0027t0013g0040 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.249+1022T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22524970 | |||||||
| chr16:22525111 | A | G | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.249+1163A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22525111 | |||||||
| chr16:22525229 | T | C | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.249+1281T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22525229 | |||||||
| chr16:22525598 | T | A | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.249+1650T>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22525598 | |||||||
| chr16:22525634 | C | T | 1 | a0006c0022t0001g0009 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.249+1686C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22525634 | |||||||
| chr16:22525983 | C | A | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.250-1583C>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22525983 | |||||||
| chr16:22526117 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.250-1449G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22526117 | |||||||
| chr16:22526590 | CAGTTGTG others(3): Show |
C | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.250-972_250-963del others(10): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526590 | ||||||
| chr16:22526615 | A | AT | 8 | a0001c0001t0001g0037 a0004c0025t0002g0008 a0004c0026t0015g0005 others(5): Show |
8 | HG00621.hp1 HG00642.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.250-928dupT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526615 | ||||||
| chr16:22526615 | AT | A | 21 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(18): Show |
22 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(19): Show |
intron_variant | MODIFIER | c.250-928delT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526615 | ||||||
| chr16:22526897 | C | T | 1 | a0001c0001t0001g0023 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.250-669C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22526897 | |||||||
| chr16:22526917 | CTATTTTT others(3): Show |
C | 1 | a0026c0021t0004g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.250-647_250-638del others(10): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526917 | ||||||
| chr16:22526919 | A | ATTTTTTT others(1): Show |
4 | a0004c0026t0015g0005 a0012c0019t0012g0010 a0016c0024t0002g0006 others(1): Show |
4 | HG01496.hp2 HG02040.hp2 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.250-625_250-618dup others(8): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526919 | A | ATTTTTTT others(4): Show |
1 | a0006c0022t0001g0009 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.250-628_250-618dup others(11): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526919 | A | ATTTTTTT others(6): Show |
1 | a0010c0023t0002g0007 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.250-630_250-618dup others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526919 | A | T | 1 | a0025c0032t0014g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.250-647A>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22526919 | |||||||
| chr16:22526919 | AT | A | 13 | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0034 others(10): Show |
13 | HG00099.hp1 HG00438.hp2 HG00621.hp2 others(10): Show |
intron_variant | MODIFIER | c.250-618delT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526919 | ATT | A | 4 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0033 others(1): Show |
4 | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(1): Show |
intron_variant | MODIFIER | c.250-619_250-618del others(2): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526919 | ATTTTTTT others(4): Show |
A | 1 | a0009c0004t0010g0043 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.250-628_250-618del others(11): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526919 | ATTTTTTT others(5): Show |
A | 1 | a0028c0027t0013g0040 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.250-629_250-618del others(12): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526919 | ||||||
| chr16:22526953 | CAG | C | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.250-610_250-609del others(2): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22526953 | ||||||
| chr16:22527241 | T | TTGTG | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.250-311_250-308dup others(4): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | 22527241 | ||||||
| chr16:22527517 | C | T | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.250-49C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2/6 | chr16 | 22527517 | |||||||
| chr16:22528199 | T | C | 1 | a0001c0001t0017g0028 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.545+226T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22528199 | |||||||
| chr16:22528214 | CTT | C | 3 | a0001c0001t0001g0001 a0004c0025t0002g0008 a0028c0027t0013g0040 |
4 | NA19057.hp2 NA19080.hp1 NA19080.hp2 others(1): Show |
intron_variant | MODIFIER | c.545+266_545+267del others(2): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | 22528214 | ||||||
| chr16:22528214 | CTTT | C | 4 | a0001c0001t0001g0044 a0006c0022t0001g0009 a0010c0023t0002g0007 others(1): Show |
4 | HG00323.hp1 HG00642.hp1 HG02040.hp2 others(1): Show |
intron_variant | MODIFIER | c.545+265_545+267del others(3): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | 22528214 | ||||||
| chr16:22528214 | CTTTTT | C | 6 | a0003c0002t0005g0003 a0003c0002t0006g0046 a0003c0010t0003g0014 others(3): Show |
6 | HG01496.hp1 HG02622.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.545+263_545+267del others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | 22528214 | ||||||
| chr16:22528214 | CTTTTTTT others(3): Show |
C | 1 | a0009c0004t0010g0043 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.545+258_545+267del others(10): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | 22528214 | ||||||
| chr16:22528480 | A | G | 1 | a0025c0032t0014g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.545+507A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22528480 | |||||||
| chr16:22528692 | AT | A | 17 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 others(14): Show |
18 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(15): Show |
intron_variant | MODIFIER | c.545+748delT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | 22528692 | ||||||
| chr16:22528784 | G | A | 3 | a0013c0030t0007g0011 a0014c0031t0008g0013 a0028c0027t0013g0040 |
3 | HG01975.hp2 HG01981.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.545+811G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22528784 | |||||||
| chr16:22529347 | G | A | 2 | a0015c0007t0001g0035 a0028c0027t0013g0040 |
2 | HG02040.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.545+1374G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529347 | |||||||
| chr16:22529455 | T | C | 2 | a0015c0007t0001g0035 a0028c0027t0013g0040 |
2 | HG02040.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.545+1482T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529455 | |||||||
| chr16:22529579 | G | C | 1 | a0017c0018t0009g0002 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.545+1606G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529579 | |||||||
| chr16:22529589 | G | T | 15 | a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0017g0028 others(12): Show |
15 | HG00099.hp1 HG00438.hp1 HG01975.hp1 others(12): Show |
intron_variant | MODIFIER | c.545+1616G>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529589 | |||||||
| chr16:22529612 | G | A | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.545+1639G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529612 | |||||||
| chr16:22529720 | G | C | 1 | a0028c0027t0013g0040 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.545+1747G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529720 | |||||||
| chr16:22529951 | A | C | 11 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0005c0005t0011g0019 others(8): Show |
11 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(8): Show |
intron_variant | MODIFIER | c.545+1978A>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529951 | |||||||
| chr16:22529962 | T | C | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.545+1989T>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22529962 | |||||||
| chr16:22530142 | A | G | 20 | a0001c0001t0001g0017 a0003c0002t0005g0003 a0003c0010t0003g0014 others(17): Show |
20 | HG00099.hp1 HG00323.hp1 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.546-1918A>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22530142 | |||||||
| chr16:22530161 | C | T | 10 | a0004c0025t0002g0008 a0004c0026t0015g0005 a0005c0005t0011g0019 others(7): Show |
10 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(7): Show |
intron_variant | MODIFIER | c.546-1899C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22530161 | |||||||
| chr16:22530172 | G | T | 2 | a0015c0007t0001g0035 a0028c0027t0013g0040 |
2 | HG02040.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.546-1888G>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22530172 | |||||||
| chr16:22530200 | C | G | 1 | a0007c0012t0001g0022 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.546-1860C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22530200 | |||||||
| chr16:22530372 | C | T | 2 | a0015c0007t0001g0035 a0028c0027t0013g0040 |
2 | HG02040.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.546-1688C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22530372 | |||||||
| chr16:22530477 | G | A | 1 | a0028c0027t0013g0040 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.546-1583G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22530477 | |||||||
| chr16:22530845 | G | GA | 2 | a0015c0007t0001g0035 a0028c0027t0013g0040 |
2 | HG02040.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.546-1214dupA | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | 22530845 | ||||||
| chr16:22531417 | C | T | 1 | a0003c0010t0003g0014 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.546-643C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22531417 | |||||||
| chr16:22531579 | G | C | 1 | a0011c0008t0016g0039 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.546-481G>C | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22531579 | |||||||
| chr16:22531693 | C | T | 1 | a0026c0021t0004g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.546-367C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22531693 | |||||||
| chr16:22531764 | C | T | 1 | a0018c0020t0002g0041 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.546-296C>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22531764 | |||||||
| chr16:22531980 | G | A | 1 | a0003c0002t0006g0046 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.546-80G>A | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 4/6 | chr16 | 22531980 | |||||||
| chr16:22532868 | C | G | 1 | a0001c0001t0001g0033 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.642+603C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 6/6 | chr16 | 22532868 | |||||||
| chr16:22533421 | C | G | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.643-205C>G | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 6/6 | chr16 | 22533421 | |||||||
| chr16:22533491 | G | T | 2 | a0009c0004t0010g0043 a0028c0027t0013g0040 |
2 | HG00621.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.643-135G>T | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 6/6 | chr16 | 22533491 | |||||||
| chr16:22533555 | C | CT | 2 | a0013c0030t0007g0011 a0014c0031t0008g0013 |
2 | HG01975.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.643-70dupT | NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr16 | 22533555 |