Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 200576 |
| ensemblid | ENSG00000115020.17 |
| hgncid | 23785 |
| symbol | PIKFYVE |
| name | phosphoinositide kinase, FYVE-type zinc finger containing |
| refseq_nuc | NM_015040.4 |
| refseq_prot | NP_055855.2 |
| ensembl_nuc | ENST00000264380.9 |
| ensembl_prot | ENSP00000264380.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 208266255 |
| end | 208358746 |
| strand | + |
| ver | v1.2 |
| region | chr2:208266255-208358746 |
| region5000 | chr2:208261255-208363746 |
| regionname0 | PIKFYVE_chr2_208266255_208358746 |
| regionname5000 | PIKFYVE_chr2_208261255_208363746 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 2098 | 215 | 60 | 38 | 76 | 9 | 31 | 49 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0002 | 0/0 | 2098 | 28 | 8 | 13 | 4 | 2 | 1 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0003 | 0/0 | 2098 | 22 | 9 | 2 | 8 | 0 | 3 | 5 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0004 | 0/0 | 2098 | 8 | 6 | 1 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0005 | 1/0 | 2098 | 3 | 2 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0006 | 0/0 | 2098 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0007 | 0/0 | 2098 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0008 | 0/0 | 2098 | 2 | 0 | 0 | 0 | 1 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0009 | 0/0 | 2098 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0010 | 0/0 | 2098 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0011 | 0/0 | 2098 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0012 | 0/0 | 2098 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| a0013 | 0/0 | 2098 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | MATDD others(2093): Show |
chr2 | 208261255 | 208363746 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 6294 | 171 | 24 | 35 | 73 | 9 | 29 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0003 | 0/0 | 6294 | 23 | 21 | 0 | 2 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0005 | 0/0 | 6294 | 14 | 14 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0008 | 0/0 | 6294 | 2 | 0 | 1 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0016 | 0/0 | 6294 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0017 | 0/0 | 6294 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0019 | 0/0 | 6294 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0020 | 0/0 | 6294 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0001c0021 | 0/0 | 6294 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0002c0002 | 0/0 | 6294 | 28 | 8 | 13 | 4 | 2 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0003c0004 | 0/0 | 6294 | 21 | 9 | 2 | 7 | 0 | 3 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0003c0012 | 0/0 | 6294 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0004c0006 | 0/0 | 6294 | 8 | 6 | 1 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0005c0010 | 1/0 | 6294 | 2 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0005c0023 | 0/0 | 6294 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0006c0007 | 0/0 | 6294 | 3 | 0 | 0 | 3 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0007c0011 | 0/0 | 6294 | 2 | 2 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0008c0009 | 0/0 | 6294 | 2 | 0 | 0 | 0 | 1 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0009c0015 | 0/0 | 6294 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0010c0014 | 0/0 | 6294 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0011c0013 | 0/0 | 6294 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0012c0022 | 0/0 | 6294 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 | ||
| a0013c0018 | 0/0 | 6294 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | ATGGC others(6289): Show |
chr2 | 208261255 | 208363746 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 9908 | 154 | 22 | 33 | 68 | 9 | 22 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0008 | 0/0 | 9908 | 4 | 0 | 0 | 0 | 0 | 4 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0010 | 0/0 | 9908 | 3 | 0 | 0 | 3 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0014 | 0/0 | 9908 | 2 | 0 | 0 | 0 | 0 | 2 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0018 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0020 | 0/0 | 9908 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0021 | 0/0 | 9908 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0022 | 0/1 | 9911 | 1 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9906): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0023 | 0/0 | 9908 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0025 | 0/0 | 9908 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0026 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0001t0027 | 0/0 | 9908 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAT others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0003t0001 | 0/0 | 9908 | 9 | 7 | 0 | 2 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0003t0006 | 0/0 | 9908 | 4 | 4 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0003t0007 | 0/0 | 9908 | 4 | 4 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0003t0011 | 0/0 | 9908 | 3 | 3 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0003t0012 | 0/0 | 9908 | 2 | 2 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0003t0024 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0005t0001 | 0/0 | 9908 | 14 | 14 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0008t0001 | 0/0 | 9908 | 2 | 0 | 1 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0016t0001 | 0/0 | 9908 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0017t0019 | 0/0 | 9908 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0019t0001 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0020t0001 | 0/0 | 9908 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0001c0021t0001 | 0/0 | 9908 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0002c0002t0002 | 0/0 | 9903 | 28 | 8 | 13 | 4 | 2 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9898): Show |
chr2 | 208261255 | 208363746 |
| a0003c0004t0003 | 0/0 | 9907 | 14 | 6 | 1 | 5 | 0 | 2 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9902): Show |
chr2 | 208261255 | 208363746 |
| a0003c0004t0005 | 0/0 | 9908 | 2 | 2 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0003c0004t0009 | 0/0 | 9908 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0003c0004t0013 | 0/0 | 9907 | 2 | 1 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9902): Show |
chr2 | 208261255 | 208363746 |
| a0003c0004t0016 | 0/0 | 9907 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9902): Show |
chr2 | 208261255 | 208363746 |
| a0003c0004t0017 | 0/0 | 9907 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9902): Show |
chr2 | 208261255 | 208363746 |
| a0003c0012t0003 | 0/0 | 9907 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9902): Show |
chr2 | 208261255 | 208363746 |
| a0004c0006t0004 | 0/0 | 9908 | 8 | 6 | 1 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0005c0010t0005 | 1/0 | 9908 | 2 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0005c0023t0005 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0006c0007t0001 | 0/0 | 9908 | 3 | 0 | 0 | 3 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0007c0011t0001 | 0/0 | 9908 | 2 | 2 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0008c0009t0009 | 0/0 | 9908 | 2 | 0 | 0 | 0 | 1 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0009c0015t0005 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0010c0014t0003 | 0/0 | 9907 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9902): Show |
chr2 | 208261255 | 208363746 |
| a0011c0013t0015 | 0/0 | 9908 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0012c0022t0001 | 0/0 | 9908 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| a0013c0018t0001 | 0/0 | 9908 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | GAGAA others(9903): Show |
chr2 | 208261255 | 208363746 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0008g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0008g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0008g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0008g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0010g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0010g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0010g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0014g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0014g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0018g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0020g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0021g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0022g0248 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0023g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0025g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0026g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0001t0027g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0001g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0006g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0006g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0006g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0006g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0007g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0007g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0007g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0007g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0011g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0011g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0011g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0012g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0012g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0003t0024g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0005t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0008t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0008t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0016t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0017t0019g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0019t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0020t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0001c0021t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0002 | 0/0 | 3 | 0 | 2 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0003 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0209 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0002c0002t0002g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0003g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0005g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0005g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0009g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0013g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0013g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0016g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0004t0017g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0003c0012t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0004c0006t0004g0004 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0004c0006t0004g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0004c0006t0004g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0004c0006t0004g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0004c0006t0004g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0004c0006t0004g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0005c0010t0005g0258 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0005c0010t0005g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0005c0023t0005g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0006c0007t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0006c0007t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0006c0007t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0007c0011t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0007c0011t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0008c0009t0009g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0008c0009t0009g0268 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0009c0015t0005g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0010c0014t0003g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0011c0013t0015g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0012c0022t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| a0013c0018t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0231 | EUR | GBR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0195 | EUR | GBR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0092 | EUR | GBR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0080 | EUR | FIN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00280 | hp2 | a0002 | c0002 | t0002 | g0209 | EUR | FIN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0229 | EAS | CHS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00639 | hp1 | a0002 | c0002 | t0002 | g0208 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0083 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0073 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00735 | hp1 | a0002 | c0002 | t0002 | g0214 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00735 | hp2 | a0001 | c0001 | t0023 | g0191 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG00738 | hp2 | a0002 | c0002 | t0002 | g0158 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01069 | hp1 | a0003 | c0004 | t0013 | g0264 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0225 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01070 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01070 | hp2 | a0001 | c0021 | t0001 | g0159 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01071 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01074 | hp1 | a0002 | c0002 | t0002 | g0011 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0201 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01099 | hp2 | a0002 | c0002 | t0002 | g0003 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01106 | hp1 | a0002 | c0002 | t0002 | g0011 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0100 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0127 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0198 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01175 | hp2 | a0002 | c0002 | t0002 | g0233 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0065 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | PUR | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0196 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0082 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0140 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01256 | hp2 | a0001 | c0008 | t0001 | g0063 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01261 | hp2 | a0002 | c0002 | t0002 | g0210 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0070 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01361 | hp2 | a0002 | c0002 | t0002 | g0232 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0124 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01433 | hp2 | a0004 | c0006 | t0004 | g0252 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0131 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01496 | hp2 | a0003 | c0004 | t0003 | g0031 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01517 | hp1 | a0002 | c0002 | t0002 | g0121 | EUR | IBS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0071 | EUR | IBS | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01884 | hp1 | a0002 | c0002 | t0002 | g0216 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01884 | hp2 | a0003 | c0004 | t0003 | g0014 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01943 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01952 | hp1 | a0002 | c0002 | t0002 | g0002 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0060 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0212 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01975 | hp2 | a0001 | c0016 | t0001 | g0194 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02015 | hp1 | a0002 | c0002 | t0002 | g0207 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0096 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02055 | hp2 | a0001 | c0001 | t0018 | g0230 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02080 | hp2 | a0003 | c0004 | t0003 | g0017 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02132 | hp2 | a0002 | c0002 | t0002 | g0211 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02145 | hp1 | a0005 | c0010 | t0005 | g0259 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02145 | hp2 | a0009 | c0015 | t0005 | g0265 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02148 | hp1 | a0001 | c0001 | t0021 | g0129 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | CDX | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | CDX | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | CDX | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02165 | hp2 | a0002 | c0002 | t0002 | g0217 | EAS | CDX | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02257 | hp1 | a0001 | c0003 | t0006 | g0026 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02257 | hp2 | a0001 | c0003 | t0007 | g0118 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02258 | hp1 | a0004 | c0006 | t0004 | g0256 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02258 | hp2 | a0007 | c0011 | t0001 | g0120 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02280 | hp1 | a0001 | c0003 | t0001 | g0029 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02280 | hp2 | a0004 | c0006 | t0004 | g0255 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02451 | hp1 | a0001 | c0001 | t0026 | g0046 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02451 | hp2 | a0004 | c0006 | t0004 | g0004 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02523 | hp1 | a0003 | c0004 | t0003 | g0016 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | KHV | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02572 | hp1 | a0001 | c0003 | t0001 | g0013 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02572 | hp2 | a0001 | c0003 | t0012 | g0273 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0094 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02615 | hp1 | a0001 | c0005 | t0001 | g0241 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02615 | hp2 | a0010 | c0014 | t0003 | g0034 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02622 | hp1 | a0001 | c0005 | t0001 | g0234 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02622 | hp2 | a0001 | c0003 | t0006 | g0024 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02630 | hp1 | a0004 | c0006 | t0004 | g0004 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02630 | hp2 | a0005 | c0023 | t0005 | g0257 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02647 | hp1 | a0001 | c0003 | t0001 | g0270 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02647 | hp2 | a0001 | c0003 | t0011 | g0116 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0134 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0064 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02717 | hp1 | a0011 | c0013 | t0015 | g0015 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0192 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0081 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02735 | hp2 | a0001 | c0017 | t0019 | g0009 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02738 | hp1 | a0001 | c0001 | t0008 | g0122 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0227 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02809 | hp1 | a0001 | c0003 | t0006 | g0027 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02809 | hp2 | a0002 | c0002 | t0002 | g0109 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02818 | hp1 | a0001 | c0005 | t0001 | g0235 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02818 | hp2 | a0004 | c0006 | t0004 | g0004 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02886 | hp1 | a0001 | c0005 | t0001 | g0237 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02886 | hp2 | a0001 | c0003 | t0007 | g0119 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02895 | hp1 | a0001 | c0005 | t0001 | g0239 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0219 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02896 | hp1 | a0002 | c0002 | t0002 | g0107 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02896 | hp2 | a0001 | c0005 | t0001 | g0245 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02922 | hp1 | a0001 | c0005 | t0001 | g0243 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02922 | hp2 | a0001 | c0003 | t0007 | g0151 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02965 | hp1 | a0003 | c0004 | t0003 | g0032 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02965 | hp2 | a0001 | c0005 | t0001 | g0244 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02976 | hp1 | a0001 | c0003 | t0012 | g0271 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0045 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0050 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03017 | hp2 | a0003 | c0004 | t0003 | g0036 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03041 | hp1 | a0003 | c0004 | t0003 | g0012 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03041 | hp2 | a0001 | c0005 | t0001 | g0240 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03098 | hp1 | a0002 | c0002 | t0002 | g0111 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03098 | hp2 | a0001 | c0003 | t0007 | g0152 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0156 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0249 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03139 | hp2 | a0001 | c0003 | t0011 | g0115 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03195 | hp1 | a0007 | c0011 | t0001 | g0113 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03209 | hp1 | a0003 | c0004 | t0013 | g0263 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03209 | hp2 | a0001 | c0003 | t0001 | g0269 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03239 | hp1 | a0001 | c0008 | t0001 | g0051 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0128 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03453 | hp2 | a0002 | c0002 | t0002 | g0110 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0189 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0095 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03490 | hp1 | a0008 | c0009 | t0009 | g0251 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0008 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03491 | hp1 | a0003 | c0004 | t0003 | g0030 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03491 | hp2 | a0001 | c0001 | t0008 | g0205 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03492 | hp1 | a0001 | c0001 | t0008 | g0206 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0008 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03516 | hp2 | a0001 | c0003 | t0011 | g0117 | AFR | ESN | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0250 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0047 | AFR | GWD | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03579 | hp1 | a0003 | c0004 | t0003 | g0033 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03654 | hp1 | a0001 | c0001 | t0027 | g0005 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03654 | hp2 | a0001 | c0001 | t0014 | g0165 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0069 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0123 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03688 | hp1 | a0001 | c0001 | t0014 | g0087 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0193 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03704 | hp1 | a0002 | c0002 | t0002 | g0002 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03710 | hp1 | a0012 | c0022 | t0001 | g0149 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0167 | SAS | PJL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0154 | SAS | BEB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03834 | hp2 | a0003 | c0004 | t0009 | g0266 | SAS | BEB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0222 | SAS | BEB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0090 | SAS | BEB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG04115 | hp1 | a0004 | c0006 | t0004 | g0253 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0226 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0085 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG04204 | hp2 | a0001 | c0001 | t0008 | g0136 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0168 | SAS | STU | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18522 | hp1 | a0001 | c0003 | t0024 | g0114 | AFR | YRI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0043 | AFR | YRI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | CHB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18612 | hp2 | a0003 | c0004 | t0003 | g0021 | EAS | CHB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | CHB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18747 | hp2 | a0006 | c0007 | t0001 | g0078 | EAS | CHB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18906 | hp1 | a0001 | c0003 | t0001 | g0262 | AFR | YRI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0049 | AFR | YRI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18942 | hp1 | a0003 | c0004 | t0003 | g0019 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18952 | hp1 | a0001 | c0003 | t0001 | g0199 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18953 | hp2 | a0013 | c0018 | t0001 | g0053 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18960 | hp1 | a0003 | c0004 | t0003 | g0022 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18961 | hp1 | a0001 | c0020 | t0001 | g0172 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18969 | hp1 | a0003 | c0012 | t0003 | g0018 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18978 | hp1 | a0006 | c0007 | t0001 | g0105 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18989 | hp1 | a0001 | c0003 | t0001 | g0202 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA18994 | hp2 | a0001 | c0001 | t0010 | g0138 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19007 | hp1 | a0001 | c0001 | t0025 | g0076 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19010 | hp1 | a0002 | c0002 | t0002 | g0213 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19010 | hp2 | a0003 | c0004 | t0017 | g0020 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19030 | hp1 | a0001 | c0005 | t0001 | g0242 | AFR | LWK | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | LWK | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19043 | hp1 | a0003 | c0004 | t0003 | g0267 | AFR | LWK | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19043 | hp2 | a0003 | c0004 | t0005 | g0260 | AFR | LWK | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19064 | hp1 | a0006 | c0007 | t0001 | g0075 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19072 | hp1 | a0003 | c0004 | t0016 | g0023 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19079 | hp1 | a0001 | c0001 | t0020 | g0093 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19085 | hp1 | a0001 | c0001 | t0010 | g0139 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19088 | hp2 | a0001 | c0001 | t0010 | g0224 | EAS | JPT | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0218 | AFR | YRI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA19240 | hp2 | a0002 | c0002 | t0002 | g0108 | AFR | YRI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0197 | EUR | TSI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA20752 | hp2 | a0008 | c0009 | t0009 | g0268 | EUR | TSI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0204 | EUR | TSI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0066 | EUR | TSI | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0142 | AMR | CLM | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02109 | hp1 | a0001 | c0005 | t0001 | g0238 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02109 | hp2 | a0001 | c0019 | t0001 | g0228 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02486 | hp1 | a0003 | c0004 | t0005 | g0261 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02486 | hp2 | a0001 | c0005 | t0001 | g0247 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02559 | hp1 | a0001 | c0003 | t0001 | g0028 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0041 | AFR | ACB | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03471 | hp1 | a0001 | c0005 | t0001 | g0236 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG03471 | hp2 | a0002 | c0002 | t0002 | g0106 | AFR | MSL | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG06807 | hp1 | a0001 | c0003 | t0001 | g0272 | AFR | USA | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| HG06807 | hp2 | a0001 | c0005 | t0001 | g0246 | AFR | USA | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA20300 | hp1 | a0002 | c0002 | t0002 | g0215 | AFR | USA | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA20300 | hp2 | a0001 | c0003 | t0006 | g0025 | AFR | USA | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA21309 | hp1 | a0003 | c0004 | t0003 | g0035 | AFR | LWK | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| NA21309 | hp2 | a0004 | c0006 | t0004 | g0254 | AFR | LWK | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0022 | g0248 | REF | REF | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| homoSapiens | grch38p0 | a0005 | c0010 | t0005 | g0258 | REF | REF | PIKFYVE_chr2_208261255_208363746 | PIKFYVE | chr2 | 208261255 | 208363746 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:208273644 | A | T | 1 | a0007 | 2 | HG02258.hp2 HG03195.hp1 |
missense_variant | MODERATE | c.233A>T | p.Gln78Leu | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/42 | 403/9908 | 233/6297 | 78/2098 | chr2 | 208273644 | |||
| chr2:208315215 | A | G | 1 | a0004 | 8 | HG01433.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
missense_variant | MODERATE | c.1849A>G | p.Met617Val | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/42 | 2019/9908 | 1849/6297 | 617/2098 | chr2 | 208315215 | |||
| chr2:208320256 | G | A | 12 | a0001 a0002 a0003 others(9): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
missense_variant | MODERATE | c.2087G>A | p.Ser696Asn | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/42 | 2257/9908 | 2087/6297 | 696/2098 | chr2 | 208320256 | |||
| chr2:208325031 | C | T | 1 | a0009 | 1 | HG02145.hp2 | missense_variant | MODERATE | c.2452C>T | p.Pro818Ser | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 19/42 | 2622/9908 | 2452/6297 | 818/2098 | chr2 | 208325031 | |||
| chr2:208325606 | T | C | 7 | a0001 a0002 a0004 others(4): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
missense_variant | MODERATE | c.2795T>C | p.Leu932Ser | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 2965/9908 | 2795/6297 | 932/2098 | chr2 | 208325606 | |||
| chr2:208325737 | C | G | 1 | a0010 | 1 | HG02615.hp2 | missense_variant | MODERATE | c.2926C>G | p.Pro976Ala | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3096/9908 | 2926/6297 | 976/2098 | chr2 | 208325737 | |||
| chr2:208325795 | A | T | 7 | a0001 a0002 a0004 others(4): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
missense_variant | MODERATE | c.2984A>T | p.Gln995Leu | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3154/9908 | 2984/6297 | 995/2098 | chr2 | 208325795 | |||
| chr2:208325804 | C | G | 8 | a0001 a0002 a0004 others(5): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
missense_variant | MODERATE | c.2993C>G | p.Thr998Ser | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3163/9908 | 2993/6297 | 998/2098 | chr2 | 208325804 | |||
| chr2:208325908 | T | G | 2 | a0002 a0004 |
36 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(33): Show |
missense_variant | MODERATE | c.3097T>G | p.Ser1033Ala | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3267/9908 | 3097/6297 | 1033/2098 | chr2 | 208325908 | |||
| chr2:208326358 | C | A | 7 | a0001 a0002 a0004 others(4): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
missense_variant | MODERATE | c.3547C>A | p.Gln1183Lys | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3717/9908 | 3547/6297 | 1183/2098 | chr2 | 208326358 | |||
| chr2:208335319 | C | T | 1 | a0012 | 1 | HG03710.hp1 | missense_variant | MODERATE | c.4156C>T | p.Arg1386Trp | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 25/42 | 4326/9908 | 4156/6297 | 1386/2098 | chr2 | 208335319 | |||
| chr2:208339519 | G | A | 1 | a0006 | 3 | NA18747.hp2 NA18978.hp1 NA19064.hp1 |
missense_variant | MODERATE | c.4774G>A | p.Gly1592Arg | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 30/42 | 4944/9908 | 4774/6297 | 1592/2098 | chr2 | 208339519 | |||
| chr2:208340014 | T | G | 1 | a0008 | 2 | HG03490.hp1 NA20752.hp2 |
missense_variant | MODERATE | c.4814T>G | p.Val1605Gly | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/42 | 4984/9908 | 4814/6297 | 1605/2098 | chr2 | 208340014 | |||
| chr2:208350909 | G | A | 1 | a0013 | 1 | NA18953.hp2 | missense_variant | MODERATE | c.5573G>A | p.Arg1858Gln | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 37/42 | 5743/9908 | 5573/6297 | 1858/2098 | chr2 | 208350909 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:208273690 | A | G | 1 | a0001c0005 | 14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
synonymous_variant | LOW | c.279A>G | p.Lys93Lys | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/42 | 449/9908 | 279/6297 | 93/2098 | chr2 | 208273690 | |||
| chr2:208315349 | C | A | 1 | a0001c0008 | 2 | HG01256.hp2 HG03239.hp1 |
synonymous_variant | LOW | c.1983C>A | p.Ile661Ile | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/42 | 2153/9908 | 1983/6297 | 661/2098 | chr2 | 208315349 | |||
| chr2:208320275 | C | T | 15 | a0001c0001 a0001c0003 a0001c0005 others(12): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
synonymous_variant | LOW | c.2106C>T | p.Pro702Pro | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/42 | 2276/9908 | 2106/6297 | 702/2098 | chr2 | 208320275 | |||
| chr2:208320288 | T | C | 1 | a0001c0016 | 1 | HG01975.hp2 | synonymous_variant | LOW | c.2119T>C | p.Leu707Leu | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/42 | 2289/9908 | 2119/6297 | 707/2098 | chr2 | 208320288 | |||
| chr2:208320353 | G | A | 1 | a0007c0011 | 2 | HG02258.hp2 HG03195.hp1 |
synonymous_variant | LOW | c.2184G>A | p.Val728Val | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/42 | 2354/9908 | 2184/6297 | 728/2098 | chr2 | 208320353 | |||
| chr2:208325508 | G | A | 1 | a0003c0012 | 1 | NA18969.hp1 | synonymous_variant | LOW | c.2697G>A | p.Glu899Glu | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 2867/9908 | 2697/6297 | 899/2098 | chr2 | 208325508 | |||
| chr2:208325703 | G | A | 1 | a0001c0017 | 1 | HG02735.hp2 | synonymous_variant | LOW | c.2892G>A | p.Pro964Pro | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3062/9908 | 2892/6297 | 964/2098 | chr2 | 208325703 | |||
| chr2:208325925 | A | G | 2 | a0002c0002 a0004c0006 |
36 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(33): Show |
synonymous_variant | LOW | c.3114A>G | p.Arg1038Arg | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3284/9908 | 3114/6297 | 1038/2098 | chr2 | 208325925 | |||
| chr2:208326375 | T | C | 22 | a0001c0001 a0001c0003 a0001c0005 others(19): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
synonymous_variant | LOW | c.3564T>C | p.Asn1188Asn | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/42 | 3734/9908 | 3564/6297 | 1188/2098 | chr2 | 208326375 | |||
| chr2:208339476 | A | G | 1 | a0001c0005 | 14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
synonymous_variant | LOW | c.4731A>G | p.Gln1577Gln | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 30/42 | 4901/9908 | 4731/6297 | 1577/2098 | chr2 | 208339476 | |||
| chr2:208342611 | C | T | 1 | a0001c0021 | 1 | HG01070.hp2 | synonymous_variant | LOW | c.4989C>T | p.Cys1663Cys | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/42 | 5159/9908 | 4989/6297 | 1663/2098 | chr2 | 208342611 | |||
| chr2:208347983 | G | A | 10 | a0001c0001 a0001c0008 a0001c0016 others(7): Show |
182 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
synonymous_variant | LOW | c.5334G>A | p.Thr1778Thr | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/42 | 5504/9908 | 5334/6297 | 1778/2098 | chr2 | 208347983 | |||
| chr2:208350046 | A | G | 15 | a0001c0001 a0001c0003 a0001c0005 others(12): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
synonymous_variant | LOW | c.5397A>G | p.Thr1799Thr | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/42 | 5567/9908 | 5397/6297 | 1799/2098 | chr2 | 208350046 | |||
| chr2:208350847 | T | C | 1 | a0004c0006 | 8 | HG01433.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
synonymous_variant | LOW | c.5511T>C | p.Ile1837Ile | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 37/42 | 5681/9908 | 5511/6297 | 1837/2098 | chr2 | 208350847 | |||
| chr2:208350862 | A | G | 15 | a0001c0001 a0001c0003 a0001c0005 others(12): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
synonymous_variant | LOW | c.5526A>G | p.Glu1842Glu | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 37/42 | 5696/9908 | 5526/6297 | 1842/2098 | chr2 | 208350862 | |||
| chr2:208352665 | G | T | 1 | a0001c0020 | 1 | NA18961.hp1 | synonymous_variant | LOW | c.5727G>T | p.Ala1909Ala | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/42 | 5897/9908 | 5727/6297 | 1909/2098 | chr2 | 208352665 | |||
| chr2:208354113 | G | A | 1 | a0001c0019 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.6060G>A | p.Leu2020Leu | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 40/42 | 6230/9908 | 6060/6297 | 2020/2098 | chr2 | 208354113 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:208266259 | A | T | 1 | a0001c0001t0027 | 1 | HG03654.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-166A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/42 | chr2 | 208266259 | |||||||
| chr2:208266265 | A | G | 1 | a0004c0006t0004 | 8 | HG01433.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-160A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/42 | 5255 | chr2 | 208266265 | ||||||
| chr2:208266291 | C | T | 1 | a0001c0003t0011 | 3 | HG02647.hp2 HG03139.hp2 HG03516.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-134C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/42 | chr2 | 208266291 | |||||||
| chr2:208355383 | T | C | 1 | a0001c0003t0012 | 2 | HG02572.hp2 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*78T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 78 | chr2 | 208355383 | ||||||
| chr2:208355433 | G | T | 30 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(27): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*128G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 128 | chr2 | 208355433 | ||||||
| chr2:208355504 | G | A | 1 | a0001c0001t0018 | 1 | HG02055.hp2 | 3_prime_UTR_variant | MODIFIER | c.*199G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 199 | chr2 | 208355504 | ||||||
| chr2:208355514 | G | C | 30 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(27): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*209G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 209 | chr2 | 208355514 | ||||||
| chr2:208355515 | G | A | 1 | a0001c0003t0006 | 4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*210G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 210 | chr2 | 208355515 | ||||||
| chr2:208355575 | A | G | 1 | a0001c0001t0008 | 4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*270A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 270 | chr2 | 208355575 | ||||||
| chr2:208355814 | G | A | 39 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(36): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
3_prime_UTR_variant | MODIFIER | c.*509G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 509 | chr2 | 208355814 | ||||||
| chr2:208355949 | A | T | 30 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(27): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*644A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 644 | chr2 | 208355949 | ||||||
| chr2:208356003 | A | G | 30 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(27): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*698A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 698 | chr2 | 208356003 | ||||||
| chr2:208356403 | A | G | 1 | a0001c0001t0026 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1098A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1098 | chr2 | 208356403 | ||||||
| chr2:208356473 | C | G | 30 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(27): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*1168C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1168 | chr2 | 208356473 | ||||||
| chr2:208356473 | C | T | 8 | a0003c0004t0003 a0003c0004t0009 a0003c0004t0013 others(5): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*1168C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1168 | chr2 | 208356473 | ||||||
| chr2:208356567 | T | G | 1 | a0002c0002t0002 | 28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*1262T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1262 | chr2 | 208356567 | ||||||
| chr2:208356804 | T | G | 1 | a0001c0017t0019 | 1 | HG02735.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1499T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1499 | chr2 | 208356804 | ||||||
| chr2:208356856 | T | C | 30 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(27): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*1551T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1551 | chr2 | 208356856 | ||||||
| chr2:208357211 | C | T | 31 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(28): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
3_prime_UTR_variant | MODIFIER | c.*1906C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1906 | chr2 | 208357211 | ||||||
| chr2:208357226 | C | T | 1 | a0001c0001t0025 | 1 | NA19007.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1921C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1921 | chr2 | 208357226 | ||||||
| chr2:208357243 | G | C | 1 | a0001c0001t0010 | 3 | NA18994.hp2 NA19085.hp1 NA19088.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1938G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1938 | chr2 | 208357243 | ||||||
| chr2:208357278 | T | TA | 2 | a0003c0004t0009 a0008c0009t0009 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1973_*1974insA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1974 | chr2 | 208357278 | ||||||
| chr2:208357283 | T | C | 2 | a0003c0004t0009 a0008c0009t0009 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1978T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 1978 | chr2 | 208357283 | ||||||
| chr2:208357448 | G | C | 1 | a0001c0001t0020 | 1 | NA19079.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2143G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2143 | chr2 | 208357448 | ||||||
| chr2:208357478 | C | T | 1 | a0002c0002t0002 | 28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*2173C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2173 | chr2 | 208357478 | ||||||
| chr2:208357490 | C | G | 8 | a0003c0004t0003 a0003c0004t0009 a0003c0004t0013 others(5): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*2185C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2185 | chr2 | 208357490 | ||||||
| chr2:208357552 | A | G | 3 | a0001c0003t0007 a0001c0003t0011 a0001c0003t0024 |
8 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2247A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2247 | chr2 | 208357552 | ||||||
| chr2:208357585 | TG | T | 8 | a0003c0004t0003 a0003c0004t0009 a0003c0004t0013 others(5): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*2281delG | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2281 | chr2 | 208357585 | ||||||
| chr2:208357638 | T | C | 1 | a0003c0004t0016 | 1 | NA19072.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2333T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2333 | chr2 | 208357638 | ||||||
| chr2:208357854 | G | A | 5 | a0003c0004t0003 a0003c0004t0016 a0003c0004t0017 others(2): Show |
18 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*2549G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2549 | chr2 | 208357854 | ||||||
| chr2:208357862 | T | C | 1 | a0001c0003t0024 | 1 | NA18522.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2557T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2557 | chr2 | 208357862 | ||||||
| chr2:208357874 | A | G | 1 | a0001c0001t0023 | 1 | HG00735.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2569A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2569 | chr2 | 208357874 | ||||||
| chr2:208358043 | A | G | 1 | a0001c0001t0014 | 2 | HG03654.hp2 HG03688.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2738A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 2738 | chr2 | 208358043 | ||||||
| chr2:208358399 | G | GTT | 6 | a0001c0003t0007 a0001c0003t0011 a0001c0003t0024 others(3): Show |
46 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*3103_*3104dupTT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 3105 | INFO_REALIGN_3_PRIME | chr2 | 208358399 | |||||
| chr2:208358399 | G | GTTT | 23 | a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(20): Show |
201 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
3_prime_UTR_variant | MODIFIER | c.*3102_*3104dupTTT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 3105 | INFO_REALIGN_3_PRIME | chr2 | 208358399 | |||||
| chr2:208358405 | T | G | 2 | a0003c0004t0016 a0003c0004t0017 |
2 | NA19010.hp2 NA19072.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3100T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 3100 | chr2 | 208358405 | ||||||
| chr2:208358516 | A | G | 1 | a0001c0001t0021 | 1 | HG02148.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3211A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 3211 | chr2 | 208358516 | ||||||
| chr2:208358608 | ATGTAT | A | 1 | a0002c0002t0002 | 28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*3309_*3313delTGTA others(1): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 3309 | INFO_REALIGN_3_PRIME | chr2 | 208358608 | |||||
| chr2:208358629 | A | G | 1 | a0001c0017t0019 | 1 | HG02735.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3324A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 42/42 | 3324 | chr2 | 208358629 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:208266558 | C | T | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.-10+143C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266558 | |||||||
| chr2:208266563 | A | AAGGT | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.-10+151_-10+152ins others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208266563 | ||||||
| chr2:208266567 | G | T | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.-10+152G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266567 | |||||||
| chr2:208266600 | C | T | 1 | a0008c0009t0009g0268 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-10+185C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266600 | |||||||
| chr2:208266644 | G | A | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.-10+229G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266644 | |||||||
| chr2:208266770 | G | T | 6 | a0004c0006t0004g0004 a0004c0006t0004g0252 a0004c0006t0004g0253 others(3): Show |
8 | HG01433.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.-10+355G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266770 | |||||||
| chr2:208266852 | A | T | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.-10+437A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266852 | |||||||
| chr2:208266914 | T | G | 25 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(22): Show |
25 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(22): Show |
intron_variant | MODIFIER | c.-10+499T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266914 | |||||||
| chr2:208266921 | T | C | 261 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(258): Show |
274 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
intron_variant | MODIFIER | c.-10+506T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208266921 | |||||||
| chr2:208267072 | T | C | 75 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show |
80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.-10+657T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267072 | |||||||
| chr2:208267136 | C | T | 2 | a0001c0001t0001g0249 a0001c0001t0001g0250 |
2 | HG03139.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-10+721C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267136 | |||||||
| chr2:208267314 | G | A | 6 | a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 others(3): Show |
6 | HG02809.hp2 HG02896.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.-10+899G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267314 | |||||||
| chr2:208267374 | C | A | 1 | a0001c0001t0001g0112 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-10+959C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267374 | |||||||
| chr2:208267394 | C | G | 261 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(258): Show |
274 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
intron_variant | MODIFIER | c.-10+979C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267394 | |||||||
| chr2:208267422 | G | A | 1 | a0001c0003t0001g0269 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-10+1007G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267422 | |||||||
| chr2:208267502 | G | GT | 7 | a0001c0003t0001g0262 a0003c0004t0013g0263 a0003c0004t0013g0264 others(4): Show |
7 | HG01069.hp1 HG02145.hp1 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.-10+1107dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267502 | ||||||
| chr2:208267502 | G | GTT | 9 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0011g0115 others(6): Show |
9 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.-10+1106_-10+1107d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267502 | ||||||
| chr2:208267502 | G | GTTT | 183 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(180): Show |
196 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(193): Show |
intron_variant | MODIFIER | c.-10+1105_-10+1107d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267502 | ||||||
| chr2:208267502 | G | GTTTT | 52 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(49): Show |
52 | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.-10+1104_-10+1107d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267502 | ||||||
| chr2:208267502 | G | GTTTTT | 14 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0012g0273 others(11): Show |
14 | HG01496.hp2 HG02280.hp1 HG02486.hp2 others(11): Show |
intron_variant | MODIFIER | c.-10+1103_-10+1107d others(7): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267502 | ||||||
| chr2:208267577 | T | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.-10+1162T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267577 | |||||||
| chr2:208267705 | C | G | 3 | a0004c0006t0004g0252 a0004c0006t0004g0253 a0004c0006t0004g0256 |
3 | HG01433.hp2 HG02258.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.-10+1290C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267705 | |||||||
| chr2:208267707 | A | G | 1 | a0005c0010t0005g0259 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-10+1292A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267707 | |||||||
| chr2:208267761 | C | CCTCCCAA others(17): Show |
1 | a0003c0004t0003g0036 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-10+1348_-10+1371d others(26): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267761 | ||||||
| chr2:208267792 | CCACCGGG others(7): Show |
C | 1 | a0001c0001t0001g0218 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-10+1379_-10+1392d others(16): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208267792 | ||||||
| chr2:208267809 | C | T | 1 | a0002c0002t0002g0217 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.-10+1394C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267809 | |||||||
| chr2:208267938 | C | T | 6 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0011g0115 others(3): Show |
6 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.-10+1523C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267938 | |||||||
| chr2:208267980 | G | T | 1 | a0007c0011t0001g0113 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-10+1565G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208267980 | |||||||
| chr2:208268132 | T | C | 2 | a0001c0001t0001g0037 a0001c0001t0001g0095 |
2 | HG03486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.-10+1717T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268132 | |||||||
| chr2:208268153 | C | T | 1 | a0001c0003t0007g0119 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-10+1738C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268153 | |||||||
| chr2:208268324 | T | C | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.-10+1909T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268324 | |||||||
| chr2:208268423 | CT | C | 213 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(210): Show |
221 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
intron_variant | MODIFIER | c.-10+2030delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208268423 | ||||||
| chr2:208268423 | CTT | C | 9 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0003t0001g0269 others(6): Show |
9 | HG01943.hp1 HG02572.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-10+2029_-10+2030d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208268423 | ||||||
| chr2:208268536 | A | G | 3 | a0004c0006t0004g0004 a0004c0006t0004g0254 a0004c0006t0004g0255 |
5 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.-10+2121A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268536 | |||||||
| chr2:208268578 | C | CT | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.-10+2174dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208268578 | ||||||
| chr2:208268619 | A | C | 211 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(208): Show |
217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-10+2204A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268619 | |||||||
| chr2:208268738 | C | T | 2 | a0001c0001t0008g0205 a0001c0001t0008g0206 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-10+2323C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268738 | |||||||
| chr2:208268895 | T | G | 4 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(1): Show |
4 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.-10+2480T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208268895 | |||||||
| chr2:208269094 | G | A | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-9-2417G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269094 | |||||||
| chr2:208269286 | C | G | 1 | a0001c0003t0001g0272 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-9-2225C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269286 | |||||||
| chr2:208269287 | A | G | 1 | a0001c0003t0007g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-9-2224A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269287 | |||||||
| chr2:208269301 | A | G | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.-9-2210A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269301 | |||||||
| chr2:208269311 | T | C | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.-9-2200T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269311 | |||||||
| chr2:208269391 | A | G | 1 | a0001c0001t0001g0008 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.-9-2120A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269391 | |||||||
| chr2:208269925 | G | A | 15 | a0001c0001t0001g0212 a0002c0002t0002g0002 a0002c0002t0002g0003 others(12): Show |
20 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.-9-1586G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208269925 | |||||||
| chr2:208270009 | A | T | 211 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(208): Show |
217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-9-1502A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270009 | |||||||
| chr2:208270037 | A | AT | 42 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(39): Show |
42 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(39): Show |
intron_variant | MODIFIER | c.-9-1452dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208270037 | ||||||
| chr2:208270037 | ATTTTTTT others(2): Show |
A | 11 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(8): Show |
11 | HG02055.hp1 HG02451.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.-9-1460_-9-1452del others(9): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | 208270037 | ||||||
| chr2:208270069 | G | A | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.-9-1442G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270069 | |||||||
| chr2:208270141 | C | A | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.-9-1370C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270141 | |||||||
| chr2:208270284 | C | T | 1 | a0001c0001t0001g0204 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-9-1227C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270284 | |||||||
| chr2:208270320 | G | A | 211 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(208): Show |
217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-9-1191G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270320 | |||||||
| chr2:208270333 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.-9-1178T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270333 | |||||||
| chr2:208270615 | G | A | 61 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(58): Show |
66 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(63): Show |
intron_variant | MODIFIER | c.-9-896G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270615 | |||||||
| chr2:208270700 | C | T | 1 | a0001c0001t0001g0112 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-9-811C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208270700 | |||||||
| chr2:208271002 | C | T | 1 | a0001c0001t0001g0203 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-9-509C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208271002 | |||||||
| chr2:208271480 | T | G | 2 | a0003c0004t0013g0263 a0003c0004t0013g0264 |
2 | HG01069.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-9-31T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208271480 | |||||||
| chr2:208271502 | G | C | 1 | a0001c0001t0001g0188 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.-9-9G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | chr2 | 208271502 | |||||||
| chr2:208271695 | A | G | 1 | a0001c0001t0020g0093 | 1 | NA19079.hp1 | splice_region_variant&intron_variant | LOW | c.172+4A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208271695 | |||||||
| chr2:208271713 | A | G | 4 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(1): Show |
4 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.172+22A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208271713 | |||||||
| chr2:208271782 | G | A | 5 | a0001c0003t0007g0118 a0001c0003t0011g0115 a0001c0003t0011g0116 others(2): Show |
5 | HG02257.hp2 HG02647.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.172+91G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208271782 | |||||||
| chr2:208272016 | C | T | 1 | a0002c0002t0002g0111 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.172+325C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272016 | |||||||
| chr2:208272104 | A | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.172+413A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272104 | |||||||
| chr2:208272122 | C | T | 1 | a0001c0001t0001g0085 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.172+431C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272122 | |||||||
| chr2:208272183 | C | T | 15 | a0001c0001t0001g0212 a0002c0002t0002g0002 a0002c0002t0002g0003 others(12): Show |
20 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.172+492C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272183 | |||||||
| chr2:208272204 | C | T | 261 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(258): Show |
274 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
intron_variant | MODIFIER | c.172+513C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272204 | |||||||
| chr2:208272234 | C | CA | 18 | a0001c0001t0008g0122 a0003c0004t0003g0012 a0003c0004t0003g0014 others(15): Show |
18 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(15): Show |
intron_variant | MODIFIER | c.172+549dupA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | 208272234 | ||||||
| chr2:208272241 | T | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.172+550T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272241 | |||||||
| chr2:208272555 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.172+864G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272555 | |||||||
| chr2:208272561 | T | C | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.172+870T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272561 | |||||||
| chr2:208272585 | A | T | 2 | a0003c0004t0013g0263 a0003c0004t0013g0264 |
2 | HG01069.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.172+894A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272585 | |||||||
| chr2:208272727 | A | G | 6 | a0003c0004t0003g0267 a0003c0004t0009g0266 a0003c0004t0013g0263 others(3): Show |
6 | HG01069.hp1 HG03209.hp1 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.173-857A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272727 | |||||||
| chr2:208272794 | T | TA | 15 | a0001c0003t0007g0118 a0001c0005t0001g0234 a0001c0005t0001g0235 others(12): Show |
15 | HG02109.hp1 HG02257.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.173-779dupA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | 208272794 | ||||||
| chr2:208272794 | T | TAAA | 16 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(13): Show |
16 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(13): Show |
intron_variant | MODIFIER | c.173-781_173-779dup others(3): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | 208272794 | ||||||
| chr2:208272888 | A | G | 261 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(258): Show |
274 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
intron_variant | MODIFIER | c.173-696A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272888 | |||||||
| chr2:208272963 | G | A | 50 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0123 others(47): Show |
51 | HG00597.hp1 HG00735.hp2 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.173-621G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208272963 | |||||||
| chr2:208273105 | C | T | 35 | a0001c0001t0001g0212 a0001c0003t0007g0118 a0001c0003t0007g0119 others(32): Show |
42 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.173-479C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273105 | |||||||
| chr2:208273119 | G | A | 272 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(269): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
intron_variant | MODIFIER | c.173-465G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273119 | |||||||
| chr2:208273198 | G | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.173-386G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273198 | |||||||
| chr2:208273244 | A | G | 1 | a0001c0001t0001g0187 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.173-340A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273244 | |||||||
| chr2:208273294 | A | G | 2 | a0001c0001t0001g0007 a0001c0001t0001g0084 |
3 | NA18957.hp2 NA18982.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.173-290A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273294 | |||||||
| chr2:208273397 | G | A | 261 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(258): Show |
274 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
intron_variant | MODIFIER | c.173-187G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273397 | |||||||
| chr2:208273464 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.173-120A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273464 | |||||||
| chr2:208273573 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.173-11C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2/41 | chr2 | 208273573 | |||||||
| chr2:208273861 | TAGTC | T | 7 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(4): Show |
7 | HG02258.hp2 HG02622.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.322+131_322+134del others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | 208273861 | ||||||
| chr2:208273910 | G | A | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.322+177G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208273910 | |||||||
| chr2:208273941 | C | T | 1 | a0001c0001t0001g0186 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.322+208C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208273941 | |||||||
| chr2:208273942 | G | A | 2 | a0001c0003t0007g0151 a0001c0003t0007g0152 |
2 | HG02922.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.322+209G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208273942 | |||||||
| chr2:208274222 | C | T | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.322+489C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208274222 | |||||||
| chr2:208274598 | G | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.322+865G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208274598 | |||||||
| chr2:208274806 | A | G | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.322+1073A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208274806 | |||||||
| chr2:208274809 | TG | T | 35 | a0001c0001t0001g0212 a0001c0003t0007g0118 a0001c0003t0007g0119 others(32): Show |
42 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.322+1077delG | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208274809 | |||||||
| chr2:208274863 | C | G | 1 | a0001c0003t0001g0202 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.322+1130C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208274863 | |||||||
| chr2:208275159 | C | T | 1 | a0001c0001t0001g0039 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.322+1426C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208275159 | |||||||
| chr2:208275232 | G | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.323-1480G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208275232 | |||||||
| chr2:208275321 | A | G | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.323-1391A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208275321 | |||||||
| chr2:208275721 | C | T | 1 | a0001c0001t0001g0229 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.323-991C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208275721 | |||||||
| chr2:208275843 | G | A | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.323-869G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208275843 | |||||||
| chr2:208275898 | T | G | 239 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(236): Show |
247 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
intron_variant | MODIFIER | c.323-814T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208275898 | |||||||
| chr2:208276256 | C | T | 1 | a0001c0001t0001g0201 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.323-456C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208276256 | |||||||
| chr2:208276342 | T | G | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.323-370T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208276342 | |||||||
| chr2:208276367 | T | C | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.323-345T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208276367 | |||||||
| chr2:208276481 | T | C | 1 | a0001c0008t0001g0051 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.323-231T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 3/41 | chr2 | 208276481 | |||||||
| chr2:208277175 | T | C | 1 | a0001c0003t0007g0119 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.441+345T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 4/41 | chr2 | 208277175 | |||||||
| chr2:208277423 | T | C | 1 | a0003c0004t0005g0260 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.442-114T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 4/41 | chr2 | 208277423 | |||||||
| chr2:208278097 | C | T | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.613+389C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278097 | |||||||
| chr2:208278294 | AT | A | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.613+595delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208278294 | ||||||
| chr2:208278308 | C | G | 3 | a0001c0003t0001g0272 a0001c0003t0012g0271 a0001c0003t0012g0273 |
3 | HG02572.hp2 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.613+600C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278308 | |||||||
| chr2:208278446 | G | A | 6 | a0003c0004t0003g0267 a0003c0004t0009g0266 a0003c0004t0013g0263 others(3): Show |
6 | HG01069.hp1 HG03209.hp1 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.613+738G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278446 | |||||||
| chr2:208278583 | C | T | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.613+875C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278583 | |||||||
| chr2:208278590 | A | G | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.613+882A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278590 | |||||||
| chr2:208278612 | C | T | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.613+904C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278612 | |||||||
| chr2:208278618 | C | T | 1 | a0002c0002t0002g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.613+910C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278618 | |||||||
| chr2:208278888 | A | G | 1 | a0001c0019t0001g0228 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.613+1180A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278888 | |||||||
| chr2:208278937 | A | G | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.613+1229A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208278937 | |||||||
| chr2:208279504 | G | A | 35 | a0001c0001t0001g0212 a0001c0003t0007g0118 a0001c0003t0007g0119 others(32): Show |
42 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.613+1796G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208279504 | |||||||
| chr2:208279648 | A | G | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.613+1940A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208279648 | |||||||
| chr2:208279706 | TGTAA | T | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.613+2001_613+2004d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208279706 | ||||||
| chr2:208279904 | C | G | 1 | a0001c0001t0001g0150 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.613+2196C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208279904 | |||||||
| chr2:208280319 | A | G | 1 | a0001c0001t0001g0185 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.613+2611A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208280319 | |||||||
| chr2:208280889 | T | G | 1 | a0001c0005t0001g0234 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.613+3181T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208280889 | |||||||
| chr2:208280905 | T | A | 1 | a0004c0006t0004g0256 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.613+3197T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208280905 | |||||||
| chr2:208280942 | GTGCTGCC others(10): Show |
G | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.613+3238_613+3254d others(19): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208280942 | ||||||
| chr2:208281279 | T | G | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.613+3571T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208281279 | |||||||
| chr2:208281397 | A | G | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.613+3689A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208281397 | |||||||
| chr2:208281477 | AATC | A | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.613+3772_613+3774d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208281477 | ||||||
| chr2:208281841 | G | A | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.614-3885G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208281841 | |||||||
| chr2:208282006 | A | G | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.614-3720A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282006 | |||||||
| chr2:208282011 | T | A | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-3715T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282011 | |||||||
| chr2:208282277 | G | T | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-3449G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282277 | |||||||
| chr2:208282324 | A | G | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-3402A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282324 | |||||||
| chr2:208282433 | A | C | 2 | a0001c0001t0001g0081 a0001c0001t0001g0082 |
2 | HG01255.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.614-3293A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282433 | |||||||
| chr2:208282735 | G | A | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-2991G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282735 | |||||||
| chr2:208282796 | C | T | 17 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(14): Show |
17 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.614-2930C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282796 | |||||||
| chr2:208282813 | G | C | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.614-2913G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282813 | |||||||
| chr2:208282837 | G | A | 2 | a0003c0004t0013g0263 a0003c0004t0013g0264 |
2 | HG01069.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.614-2889G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282837 | |||||||
| chr2:208282839 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.614-2887C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282839 | |||||||
| chr2:208282857 | C | T | 35 | a0001c0001t0001g0212 a0001c0003t0007g0118 a0001c0003t0007g0119 others(32): Show |
42 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.614-2869C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282857 | |||||||
| chr2:208282950 | C | G | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.614-2776C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208282950 | |||||||
| chr2:208283083 | G | GCTA | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.614-2641_614-2639d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208283083 | ||||||
| chr2:208283091 | C | T | 6 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0011g0115 others(3): Show |
6 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.614-2635C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283091 | |||||||
| chr2:208283100 | G | A | 2 | a0001c0001t0001g0219 a0001c0001t0018g0230 |
2 | HG02055.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.614-2626G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283100 | |||||||
| chr2:208283289 | A | G | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.614-2437A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283289 | |||||||
| chr2:208283380 | G | A | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.614-2346G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283380 | |||||||
| chr2:208283581 | G | GC | 6 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0011g0115 others(3): Show |
6 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.614-2145_614-2144i others(3): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283581 | |||||||
| chr2:208283614 | T | C | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-2112T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283614 | |||||||
| chr2:208283641 | C | T | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-2085C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283641 | |||||||
| chr2:208283700 | C | T | 1 | a0001c0001t0001g0079 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.614-2026C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283700 | |||||||
| chr2:208283727 | G | A | 1 | a0004c0006t0004g0254 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.614-1999G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283727 | |||||||
| chr2:208283740 | T | C | 1 | a0001c0001t0001g0097 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.614-1986T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283740 | |||||||
| chr2:208283743 | C | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.614-1983C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283743 | |||||||
| chr2:208283758 | A | AT | 17 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(14): Show |
17 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.614-1962dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208283758 | ||||||
| chr2:208283765 | A | G | 17 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(14): Show |
17 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.614-1961A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283765 | |||||||
| chr2:208283827 | G | C | 1 | a0001c0001t0001g0153 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.614-1899G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283827 | |||||||
| chr2:208283860 | G | A | 4 | a0001c0003t0001g0272 a0001c0003t0012g0271 a0001c0003t0012g0273 others(1): Show |
4 | HG02523.hp1 HG02572.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.614-1866G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283860 | |||||||
| chr2:208283914 | G | A | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.614-1812G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283914 | |||||||
| chr2:208283915 | T | C | 262 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show |
275 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
intron_variant | MODIFIER | c.614-1811T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208283915 | |||||||
| chr2:208284053 | G | A | 260 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(257): Show |
273 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
intron_variant | MODIFIER | c.614-1673G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284053 | |||||||
| chr2:208284208 | A | G | 1 | a0002c0002t0002g0110 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.614-1518A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284208 | |||||||
| chr2:208284245 | A | C | 1 | a0001c0001t0001g0193 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.614-1481A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284245 | |||||||
| chr2:208284261 | C | CT | 8 | a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0184 others(5): Show |
8 | HG00621.hp1 NA18747.hp2 NA18971.hp1 others(5): Show |
intron_variant | MODIFIER | c.614-1449dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208284261 | ||||||
| chr2:208284261 | CT | C | 30 | a0001c0001t0001g0039 a0001c0003t0007g0118 a0001c0003t0007g0119 others(27): Show |
37 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.614-1449delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208284261 | ||||||
| chr2:208284385 | C | T | 3 | a0001c0001t0001g0103 a0001c0003t0007g0151 a0001c0003t0007g0152 |
3 | HG02922.hp2 HG03098.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.614-1341C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284385 | |||||||
| chr2:208284556 | C | T | 1 | a0001c0001t0001g0153 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.614-1170C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284556 | |||||||
| chr2:208284771 | A | G | 1 | a0001c0001t0001g0200 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.614-955A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284771 | |||||||
| chr2:208284855 | G | C | 5 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0031 others(2): Show |
5 | HG01496.hp2 HG01884.hp2 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.614-871G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284855 | |||||||
| chr2:208284893 | T | G | 77 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 others(74): Show |
78 | HG00597.hp1 HG01069.hp2 HG01071.hp2 others(75): Show |
intron_variant | MODIFIER | c.614-833T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208284893 | |||||||
| chr2:208285066 | ATTTTG | A | 272 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(269): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
intron_variant | MODIFIER | c.614-640_614-636del others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | 208285066 | ||||||
| chr2:208285126 | G | A | 2 | a0003c0004t0003g0017 a0003c0004t0005g0260 |
2 | HG02080.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.614-600G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208285126 | |||||||
| chr2:208285199 | A | G | 246 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(243): Show |
259 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
intron_variant | MODIFIER | c.614-527A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208285199 | |||||||
| chr2:208285245 | G | A | 1 | a0001c0001t0001g0100 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.614-481G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208285245 | |||||||
| chr2:208285699 | G | C | 1 | a0002c0002t0002g0106 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.614-27G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 5/41 | chr2 | 208285699 | |||||||
| chr2:208286254 | A | G | 208 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(205): Show |
214 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
intron_variant | MODIFIER | c.821+321A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286254 | |||||||
| chr2:208286329 | A | G | 2 | a0001c0001t0001g0182 a0001c0001t0001g0183 |
2 | HG02071.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.821+396A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286329 | |||||||
| chr2:208286351 | A | C | 192 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(189): Show |
198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.821+418A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286351 | |||||||
| chr2:208286509 | T | G | 1 | a0006c0007t0001g0075 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.821+576T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286509 | |||||||
| chr2:208286605 | T | C | 1 | a0002c0002t0002g0216 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.821+672T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286605 | |||||||
| chr2:208286665 | C | T | 1 | a0003c0004t0009g0266 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.821+732C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286665 | |||||||
| chr2:208286672 | C | A | 1 | a0008c0009t0009g0268 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.821+739C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286672 | |||||||
| chr2:208286906 | A | G | 7 | a0001c0003t0007g0118 a0001c0003t0007g0151 a0001c0003t0007g0152 others(4): Show |
7 | HG02257.hp2 HG02647.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.821+973A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208286906 | |||||||
| chr2:208287003 | A | C | 194 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(191): Show |
200 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
intron_variant | MODIFIER | c.821+1070A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287003 | |||||||
| chr2:208287076 | G | A | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.821+1143G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287076 | |||||||
| chr2:208287094 | TAAAATTT others(1): Show |
T | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.821+1175_821+1182d others(10): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr2 | 208287094 | ||||||
| chr2:208287270 | CT | C | 227 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(224): Show |
240 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
intron_variant | MODIFIER | c.821+1353delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr2 | 208287270 | ||||||
| chr2:208287270 | CTT | C | 12 | a0001c0001t0001g0081 a0001c0001t0001g0143 a0001c0003t0001g0028 others(9): Show |
12 | HG02257.hp2 HG02559.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.821+1352_821+1353d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr2 | 208287270 | ||||||
| chr2:208287425 | C | G | 3 | a0004c0006t0004g0004 a0004c0006t0004g0254 a0004c0006t0004g0255 |
5 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.822-1304C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287425 | |||||||
| chr2:208287448 | G | C | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.822-1281G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287448 | |||||||
| chr2:208287563 | C | T | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.822-1166C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287563 | |||||||
| chr2:208287565 | C | T | 4 | a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0001g0142 others(1): Show |
5 | HG01069.hp2 HG01071.hp2 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.822-1164C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287565 | |||||||
| chr2:208287687 | G | A | 42 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(39): Show |
49 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.822-1042G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208287687 | |||||||
| chr2:208287940 | AT | A | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.822-782delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr2 | 208287940 | ||||||
| chr2:208288532 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.822-197T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208288532 | |||||||
| chr2:208288582 | C | T | 2 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | HG03130.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.822-147C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208288582 | |||||||
| chr2:208288592 | A | G | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.822-137A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208288592 | |||||||
| chr2:208288708 | A | G | 1 | a0003c0004t0003g0016 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.822-21A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 6/41 | chr2 | 208288708 | |||||||
| chr2:208289262 | G | A | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.911+444G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208289262 | |||||||
| chr2:208289400 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+582T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208289400 | |||||||
| chr2:208289406 | A | AT | 24 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(21): Show |
24 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.911+594dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208289406 | ||||||
| chr2:208289681 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+863C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208289681 | |||||||
| chr2:208289861 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+1043T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208289861 | |||||||
| chr2:208289870 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+1052C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208289870 | |||||||
| chr2:208289871 | G | A | 1 | a0003c0012t0003g0018 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.911+1053G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208289871 | |||||||
| chr2:208290215 | G | A | 1 | a0001c0005t0001g0234 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.911+1397G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290215 | |||||||
| chr2:208290285 | C | T | 1 | a0001c0001t0001g0181 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.911+1467C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290285 | |||||||
| chr2:208290415 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+1597C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290415 | |||||||
| chr2:208290484 | T | C | 178 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(175): Show |
184 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
intron_variant | MODIFIER | c.911+1666T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290484 | |||||||
| chr2:208290569 | G | A | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.911+1751G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290569 | |||||||
| chr2:208290782 | T | G | 1 | a0002c0002t0002g0207 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.911+1964T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290782 | |||||||
| chr2:208290828 | C | G | 29 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(26): Show |
36 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.911+2010C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290828 | |||||||
| chr2:208290884 | C | G | 1 | a0001c0001t0001g0180 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.911+2066C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290884 | |||||||
| chr2:208290900 | G | A | 7 | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show |
7 | NA18952.hp2 NA18969.hp2 NA18981.hp2 others(4): Show |
intron_variant | MODIFIER | c.911+2082G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290900 | |||||||
| chr2:208290942 | A | T | 1 | a0001c0003t0001g0028 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.911+2124A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290942 | |||||||
| chr2:208290944 | C | T | 17 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(14): Show |
17 | HG02109.hp1 HG02132.hp2 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.911+2126C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290944 | |||||||
| chr2:208290988 | T | C | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.911+2170T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208290988 | |||||||
| chr2:208291205 | A | G | 1 | a0005c0023t0005g0257 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.911+2387A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291205 | |||||||
| chr2:208291241 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+2423G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291241 | |||||||
| chr2:208291347 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+2529C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291347 | |||||||
| chr2:208291581 | C | T | 190 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(187): Show |
196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.911+2763C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291581 | |||||||
| chr2:208291669 | G | A | 1 | a0001c0021t0001g0159 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.911+2851G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291669 | |||||||
| chr2:208291718 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+2900C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291718 | |||||||
| chr2:208291977 | A | G | 2 | a0001c0003t0001g0199 a0001c0003t0001g0202 |
2 | NA18952.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.911+3159A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208291977 | |||||||
| chr2:208292229 | T | C | 1 | a0002c0002t0002g0207 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.911+3411T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208292229 | |||||||
| chr2:208292286 | G | C | 74 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(71): Show |
79 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.911+3468G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208292286 | |||||||
| chr2:208292377 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.911+3559T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208292377 | |||||||
| chr2:208292920 | TGATGTAG others(15): Show |
T | 63 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(60): Show |
68 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.911+4103_911+4124d others(24): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208292920 | |||||||
| chr2:208293079 | ATTCT | A | 20 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(17): Show |
20 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.911+4264_911+4267d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208293079 | ||||||
| chr2:208293082 | C | CT | 240 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(237): Show |
253 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
intron_variant | MODIFIER | c.911+4277dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208293082 | ||||||
| chr2:208293105 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.911+4287C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293105 | |||||||
| chr2:208293352 | T | G | 1 | a0003c0004t0003g0019 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.911+4534T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293352 | |||||||
| chr2:208293403 | G | A | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.911+4585G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293403 | |||||||
| chr2:208293522 | C | T | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.911+4704C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293522 | |||||||
| chr2:208293562 | G | T | 4 | a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0001g0142 others(1): Show |
5 | HG01069.hp2 HG01071.hp2 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.911+4744G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293562 | |||||||
| chr2:208293566 | AT | A | 6 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(3): Show |
6 | HG00544.hp1 HG02083.hp2 NA18953.hp2 others(3): Show |
intron_variant | MODIFIER | c.911+4749delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293566 | |||||||
| chr2:208293586 | T | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.911+4768T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293586 | |||||||
| chr2:208293599 | A | G | 38 | a0001c0001t0001g0086 a0001c0003t0007g0118 a0001c0003t0007g0119 others(35): Show |
45 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.911+4781A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293599 | |||||||
| chr2:208293618 | C | T | 177 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(174): Show |
183 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
intron_variant | MODIFIER | c.911+4800C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293618 | |||||||
| chr2:208293675 | GT | G | 207 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(204): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.911+4872delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208293675 | ||||||
| chr2:208293737 | A | G | 1 | a0001c0001t0001g0140 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.912-4904A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208293737 | |||||||
| chr2:208294095 | ATTG | A | 4 | a0001c0001t0001g0179 a0001c0001t0010g0138 a0001c0001t0010g0139 others(1): Show |
4 | NA18994.hp2 NA19085.hp1 NA19085.hp2 others(1): Show |
intron_variant | MODIFIER | c.912-4543_912-4541d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208294095 | ||||||
| chr2:208294145 | G | A | 3 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0184 |
3 | NA18953.hp1 NA18971.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.912-4496G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208294145 | |||||||
| chr2:208294581 | A | G | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.912-4060A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208294581 | |||||||
| chr2:208294762 | TC | T | 4 | a0001c0001t0001g0137 a0001c0001t0001g0178 a0001c0001t0001g0188 others(1): Show |
4 | HG00597.hp1 HG00621.hp2 HG02015.hp2 others(1): Show |
intron_variant | MODIFIER | c.912-3878delC | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208294762 | |||||||
| chr2:208294847 | G | A | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.912-3794G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208294847 | |||||||
| chr2:208294971 | C | T | 10 | a0001c0001t0001g0074 a0001c0001t0001g0160 a0001c0001t0001g0161 others(7): Show |
10 | HG00438.hp2 HG00544.hp2 HG02155.hp1 others(7): Show |
intron_variant | MODIFIER | c.912-3670C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208294971 | |||||||
| chr2:208295016 | A | C | 1 | a0001c0019t0001g0228 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.912-3625A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295016 | |||||||
| chr2:208295045 | T | TAATTGAT others(2): Show |
3 | a0003c0004t0009g0266 a0008c0009t0009g0251 a0008c0009t0009g0268 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.912-3596_912-3595i others(11): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295045 | |||||||
| chr2:208295047 | T | TGATAACA others(2): Show |
3 | a0003c0004t0009g0266 a0008c0009t0009g0251 a0008c0009t0009g0268 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.912-3594_912-3593i others(11): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295047 | |||||||
| chr2:208295048 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.912-3593T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295048 | |||||||
| chr2:208295348 | G | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.912-3293G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295348 | |||||||
| chr2:208295467 | A | G | 1 | a0001c0001t0001g0085 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.912-3174A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295467 | |||||||
| chr2:208295655 | C | T | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.912-2986C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295655 | |||||||
| chr2:208295866 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.912-2775A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295866 | |||||||
| chr2:208295935 | C | T | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.912-2706C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208295935 | |||||||
| chr2:208296183 | T | C | 2 | a0001c0001t0001g0219 a0001c0001t0018g0230 |
2 | HG02055.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.912-2458T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208296183 | |||||||
| chr2:208296637 | GA | G | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.912-2000delA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208296637 | ||||||
| chr2:208296740 | G | T | 1 | a0001c0003t0007g0119 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.912-1901G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208296740 | |||||||
| chr2:208297117 | C | T | 10 | a0003c0004t0003g0016 a0003c0004t0003g0017 a0003c0004t0003g0019 others(7): Show |
10 | HG02080.hp2 HG02523.hp1 HG03017.hp2 others(7): Show |
intron_variant | MODIFIER | c.912-1524C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297117 | |||||||
| chr2:208297369 | A | C | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.912-1272A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297369 | |||||||
| chr2:208297552 | T | C | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.912-1089T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297552 | |||||||
| chr2:208297556 | G | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.912-1085G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297556 | |||||||
| chr2:208297660 | T | C | 3 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0088 |
3 | HG00438.hp1 HG02080.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.912-981T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297660 | |||||||
| chr2:208297665 | A | G | 3 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 |
3 | HG00544.hp1 NA18970.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.912-976A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297665 | |||||||
| chr2:208297699 | A | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.912-942A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208297699 | |||||||
| chr2:208298045 | A | G | 1 | a0001c0001t0001g0099 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.912-596A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298045 | |||||||
| chr2:208298049 | C | T | 4 | a0001c0001t0008g0122 a0001c0001t0008g0136 a0001c0001t0008g0205 others(1): Show |
4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.912-592C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298049 | |||||||
| chr2:208298051 | T | C | 207 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(204): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.912-590T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298051 | |||||||
| chr2:208298238 | A | G | 1 | a0001c0005t0001g0244 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.912-403A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298238 | |||||||
| chr2:208298352 | A | G | 1 | a0002c0002t0002g0233 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.912-289A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298352 | |||||||
| chr2:208298408 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.912-233A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298408 | |||||||
| chr2:208298422 | T | C | 1 | a0003c0004t0003g0267 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.912-219T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298422 | |||||||
| chr2:208298431 | ATAGGG | A | 44 | a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0112 others(41): Show |
44 | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.912-208_912-204del others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr2 | 208298431 | ||||||
| chr2:208298603 | T | G | 1 | a0001c0003t0007g0151 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.912-38T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 7/41 | chr2 | 208298603 | |||||||
| chr2:208298832 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1050+53C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208298832 | |||||||
| chr2:208298855 | C | T | 1 | a0001c0001t0001g0048 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1050+76C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208298855 | |||||||
| chr2:208298868 | G | A | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1050+89G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208298868 | |||||||
| chr2:208299117 | G | T | 1 | a0001c0001t0001g0177 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1050+338G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208299117 | |||||||
| chr2:208299301 | T | TA | 24 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(21): Show |
24 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.1050+522_1050+523i others(3): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208299301 | |||||||
| chr2:208299700 | A | G | 1 | a0001c0003t0001g0269 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1050+921A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208299700 | |||||||
| chr2:208299734 | A | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1050+955A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208299734 | |||||||
| chr2:208299892 | G | T | 24 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(21): Show |
24 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.1051-1045G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208299892 | |||||||
| chr2:208299991 | C | T | 8 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(5): Show |
8 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1051-946C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208299991 | |||||||
| chr2:208300265 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1051-672G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300265 | |||||||
| chr2:208300293 | G | A | 177 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(174): Show |
183 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
intron_variant | MODIFIER | c.1051-644G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300293 | |||||||
| chr2:208300359 | T | C | 186 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(183): Show |
192 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
intron_variant | MODIFIER | c.1051-578T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300359 | |||||||
| chr2:208300418 | A | G | 1 | a0001c0003t0001g0262 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1051-519A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300418 | |||||||
| chr2:208300435 | G | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.1051-502G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300435 | |||||||
| chr2:208300763 | A | T | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.1051-174A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300763 | |||||||
| chr2:208300895 | A | G | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.1051-42A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 8/41 | chr2 | 208300895 | |||||||
| chr2:208301149 | A | G | 6 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(3): Show |
6 | HG02486.hp1 HG02572.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1208+55A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301149 | |||||||
| chr2:208301444 | G | A | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1208+350G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301444 | |||||||
| chr2:208301461 | T | G | 4 | a0001c0001t0008g0122 a0001c0001t0008g0136 a0001c0001t0008g0205 others(1): Show |
4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1208+367T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301461 | |||||||
| chr2:208301539 | C | T | 1 | a0001c0001t0008g0136 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1208+445C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301539 | |||||||
| chr2:208301655 | G | A | 2 | a0001c0001t0001g0219 a0001c0001t0018g0230 |
2 | HG02055.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.1208+561G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301655 | |||||||
| chr2:208301698 | C | A | 185 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(182): Show |
191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.1209-544C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301698 | |||||||
| chr2:208301732 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1209-510G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301732 | |||||||
| chr2:208301843 | A | G | 1 | a0001c0001t0001g0250 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1209-399A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301843 | |||||||
| chr2:208301848 | T | C | 1 | a0001c0001t0001g0153 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1209-394T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301848 | |||||||
| chr2:208301915 | T | C | 1 | a0001c0003t0001g0028 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1209-327T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301915 | |||||||
| chr2:208301980 | A | G | 30 | a0001c0001t0001g0086 a0002c0002t0002g0002 a0002c0002t0002g0003 others(27): Show |
37 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1209-262A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208301980 | |||||||
| chr2:208302106 | T | G | 30 | a0001c0001t0001g0086 a0002c0002t0002g0002 a0002c0002t0002g0003 others(27): Show |
37 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1209-136T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208302106 | |||||||
| chr2:208302138 | T | G | 1 | a0001c0001t0001g0182 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1209-104T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208302138 | |||||||
| chr2:208302169 | G | C | 1 | a0001c0001t0001g0083 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1209-73G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 9/41 | chr2 | 208302169 | |||||||
| chr2:208302425 | T | G | 4 | a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0231 others(1): Show |
4 | HG00099.hp2 HG00140.hp1 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.1320+72T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208302425 | |||||||
| chr2:208302752 | A | G | 75 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show |
80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.1320+399A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208302752 | |||||||
| chr2:208303101 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1320+748G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303101 | |||||||
| chr2:208303178 | A | T | 2 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | HG02132.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.1320+825A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303178 | |||||||
| chr2:208303193 | C | T | 184 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(181): Show |
190 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
intron_variant | MODIFIER | c.1320+840C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303193 | |||||||
| chr2:208303238 | T | C | 1 | a0001c0001t0001g0084 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1320+885T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303238 | |||||||
| chr2:208303269 | A | G | 3 | a0001c0003t0011g0115 a0001c0003t0011g0116 a0001c0003t0011g0117 |
3 | HG02647.hp2 HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1321-902A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303269 | |||||||
| chr2:208303285 | G | GCA | 223 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(220): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
intron_variant | MODIFIER | c.1321-871_1321-870d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | INFO_REALIGN_3_PRIME | chr2 | 208303285 | ||||||
| chr2:208303285 | G | GCACA | 3 | a0001c0003t0001g0270 a0007c0011t0001g0113 a0007c0011t0001g0120 |
3 | HG02258.hp2 HG02647.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1321-873_1321-870d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | INFO_REALIGN_3_PRIME | chr2 | 208303285 | ||||||
| chr2:208303294 | C | CAT | 3 | a0001c0001t0001g0162 a0001c0001t0001g0196 a0001c0001t0001g0197 |
3 | HG01255.hp1 HG01261.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1321-876_1321-875i others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | INFO_REALIGN_3_PRIME | chr2 | 208303294 | ||||||
| chr2:208303300 | C | CACAT | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.1321-870_1321-869i others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | INFO_REALIGN_3_PRIME | chr2 | 208303300 | ||||||
| chr2:208303705 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1321-466A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303705 | |||||||
| chr2:208303716 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1321-455G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303716 | |||||||
| chr2:208303793 | G | C | 1 | a0001c0001t0001g0080 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1321-378G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303793 | |||||||
| chr2:208303973 | C | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1321-198C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208303973 | |||||||
| chr2:208304063 | A | G | 1 | a0002c0002t0002g0211 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1321-108A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208304063 | |||||||
| chr2:208304129 | C | T | 243 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(240): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
intron_variant | MODIFIER | c.1321-42C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 10/41 | chr2 | 208304129 | |||||||
| chr2:208304841 | A | G | 2 | a0001c0001t0001g0249 a0001c0001t0001g0250 |
2 | HG03139.hp1 HG03540.hp1 |
splice_region_variant&intron_variant | LOW | c.1469-5A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 11/41 | chr2 | 208304841 | |||||||
| chr2:208305120 | G | A | 2 | a0001c0003t0001g0199 a0001c0003t0001g0202 |
2 | NA18952.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.1636+107G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305120 | |||||||
| chr2:208305152 | C | T | 1 | a0003c0004t0003g0035 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1636+139C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305152 | |||||||
| chr2:208305308 | A | G | 1 | a0003c0004t0003g0035 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1636+295A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305308 | |||||||
| chr2:208305425 | A | G | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1636+412A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305425 | |||||||
| chr2:208305439 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1636+426A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305439 | |||||||
| chr2:208305692 | T | C | 1 | a0001c0001t0001g0001 | 3 | HG00099.hp1 HG01169.hp1 HG01257.hp2 |
intron_variant | MODIFIER | c.1636+679T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305692 | |||||||
| chr2:208305745 | C | T | 4 | a0001c0001t0008g0122 a0001c0001t0008g0136 a0001c0001t0008g0205 others(1): Show |
4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636+732C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305745 | |||||||
| chr2:208305786 | G | T | 1 | a0009c0015t0005g0265 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1636+773G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208305786 | |||||||
| chr2:208306132 | G | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1636+1119G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306132 | |||||||
| chr2:208306336 | A | G | 1 | a0010c0014t0003g0034 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1636+1323A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306336 | |||||||
| chr2:208306353 | G | A | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1636+1340G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306353 | |||||||
| chr2:208306461 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1636+1448G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306461 | |||||||
| chr2:208306506 | C | A | 11 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(8): Show |
11 | HG02055.hp1 HG02451.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1636+1493C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306506 | |||||||
| chr2:208306516 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1636+1503G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306516 | |||||||
| chr2:208306519 | A | G | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.1636+1506A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306519 | |||||||
| chr2:208306775 | C | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1636+1762C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306775 | |||||||
| chr2:208306789 | T | C | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636+1776T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306789 | |||||||
| chr2:208306789 | T | TTC | 17 | a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0227 others(14): Show |
17 | HG01192.hp2 HG02109.hp1 HG02486.hp2 others(14): Show |
intron_variant | MODIFIER | c.1636+1777_1636+177 others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208306789 | ||||||
| chr2:208306789 | T | TTTC | 223 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(220): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
intron_variant | MODIFIER | c.1636+1778_1636+178 others(7): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208306789 | ||||||
| chr2:208306863 | C | T | 2 | a0001c0003t0001g0013 a0001c0003t0001g0029 |
2 | HG02280.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1636+1850C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306863 | |||||||
| chr2:208306868 | C | G | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1636+1855C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306868 | |||||||
| chr2:208306869 | G | C | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.1636+1856G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208306869 | |||||||
| chr2:208307062 | A | G | 30 | a0001c0001t0001g0086 a0002c0002t0002g0002 a0002c0002t0002g0003 others(27): Show |
37 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1636+2049A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307062 | |||||||
| chr2:208307083 | A | C | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636+2070A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307083 | |||||||
| chr2:208307291 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1636+2278G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307291 | |||||||
| chr2:208307450 | T | A | 1 | a0001c0001t0001g0200 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.1636+2437T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307450 | |||||||
| chr2:208307572 | AT | A | 264 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(261): Show |
277 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
intron_variant | MODIFIER | c.1636+2575delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208307572 | ||||||
| chr2:208307572 | ATT | A | 6 | a0001c0001t0001g0089 a0001c0001t0008g0205 a0002c0002t0002g0107 others(3): Show |
6 | HG00639.hp2 HG02258.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.1636+2574_1636+257 others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208307572 | ||||||
| chr2:208307702 | T | A | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1636+2689T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307702 | |||||||
| chr2:208307779 | A | G | 1 | a0005c0023t0005g0257 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1636+2766A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307779 | |||||||
| chr2:208307846 | CAA | C | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.1636+2835_1636+283 others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208307846 | ||||||
| chr2:208307862 | G | T | 1 | a0001c0001t0001g0195 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1636+2849G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208307862 | |||||||
| chr2:208308399 | T | TA | 242 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(239): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.1636+3397dupA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208308399 | ||||||
| chr2:208308426 | A | G | 1 | a0001c0001t0001g0071 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1636+3413A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308426 | |||||||
| chr2:208308454 | A | G | 4 | a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 others(1): Show |
4 | HG02809.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636+3441A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308454 | |||||||
| chr2:208308612 | A | G | 1 | a0001c0001t0001g0100 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1636+3599A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308612 | |||||||
| chr2:208308709 | G | GT | 180 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(177): Show |
186 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
intron_variant | MODIFIER | c.1637-3512dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | INFO_REALIGN_3_PRIME | chr2 | 208308709 | ||||||
| chr2:208308729 | C | T | 4 | a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0227 others(1): Show |
4 | HG01070.hp2 HG01192.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.1637-3507C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308729 | |||||||
| chr2:208308735 | T | G | 2 | a0001c0001t0001g0037 a0001c0001t0001g0095 |
2 | HG03486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1637-3501T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308735 | |||||||
| chr2:208308826 | G | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.1637-3410G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308826 | |||||||
| chr2:208308868 | C | T | 43 | a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0068 others(40): Show |
51 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(48): Show |
intron_variant | MODIFIER | c.1637-3368C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308868 | |||||||
| chr2:208308936 | G | C | 52 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0112 others(49): Show |
52 | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.1637-3300G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308936 | |||||||
| chr2:208308950 | C | T | 1 | a0001c0001t0001g0047 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1637-3286C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208308950 | |||||||
| chr2:208309069 | A | T | 8 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(5): Show |
8 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1637-3167A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309069 | |||||||
| chr2:208309464 | A | G | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.1637-2772A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309464 | |||||||
| chr2:208309576 | C | G | 2 | a0001c0003t0007g0151 a0001c0003t0007g0152 |
2 | HG02922.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1637-2660C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309576 | |||||||
| chr2:208309805 | A | T | 1 | a0003c0004t0003g0035 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1637-2431A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309805 | |||||||
| chr2:208309818 | A | C | 1 | a0001c0020t0001g0172 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1637-2418A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309818 | |||||||
| chr2:208309819 | C | T | 1 | a0003c0004t0003g0267 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1637-2417C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309819 | |||||||
| chr2:208309995 | T | C | 6 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(3): Show |
6 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1637-2241T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208309995 | |||||||
| chr2:208310072 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-2164G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310072 | |||||||
| chr2:208310136 | C | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-2100C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310136 | |||||||
| chr2:208310137 | A | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-2099A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310137 | |||||||
| chr2:208310139 | G | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-2097G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310139 | |||||||
| chr2:208310140 | A | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-2096A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310140 | |||||||
| chr2:208310146 | A | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-2090A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310146 | |||||||
| chr2:208310222 | G | T | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.1637-2014G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310222 | |||||||
| chr2:208310385 | A | G | 1 | a0001c0001t0001g0037 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1637-1851A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310385 | |||||||
| chr2:208310419 | C | T | 5 | a0002c0002t0002g0011 a0002c0002t0002g0209 a0002c0002t0002g0210 others(2): Show |
6 | HG00280.hp2 HG00735.hp1 HG01074.hp1 others(3): Show |
intron_variant | MODIFIER | c.1637-1817C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310419 | |||||||
| chr2:208310805 | G | C | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1637-1431G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310805 | |||||||
| chr2:208310899 | T | G | 2 | a0002c0002t0002g0011 a0002c0002t0002g0214 |
3 | HG00735.hp1 HG01074.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.1637-1337T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208310899 | |||||||
| chr2:208311248 | A | G | 2 | a0001c0001t0001g0008 a0001c0001t0001g0067 |
3 | HG01106.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1637-988A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208311248 | |||||||
| chr2:208311480 | A | T | 11 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(8): Show |
11 | HG02055.hp1 HG02451.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1637-756A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208311480 | |||||||
| chr2:208311860 | A | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-376A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208311860 | |||||||
| chr2:208311930 | T | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1637-306T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208311930 | |||||||
| chr2:208311958 | G | C | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1637-278G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208311958 | |||||||
| chr2:208312083 | T | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.1637-153T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 12/41 | chr2 | 208312083 | |||||||
| chr2:208312625 | A | G | 5 | a0002c0002t0002g0011 a0002c0002t0002g0209 a0002c0002t0002g0210 others(2): Show |
6 | HG00280.hp2 HG00735.hp1 HG01074.hp1 others(3): Show |
intron_variant | MODIFIER | c.1696+330A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208312625 | |||||||
| chr2:208312773 | G | GAATAGAA others(4): Show |
244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1696+479_1696+480i others(13): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | INFO_REALIGN_3_PRIME | chr2 | 208312773 | ||||||
| chr2:208312866 | C | G | 1 | a0003c0004t0013g0264 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1696+571C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208312866 | |||||||
| chr2:208312935 | G | C | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1696+640G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208312935 | |||||||
| chr2:208313087 | T | G | 6 | a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 others(3): Show |
6 | HG02809.hp2 HG02896.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.1696+792T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313087 | |||||||
| chr2:208313309 | A | C | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1697-985A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313309 | |||||||
| chr2:208313462 | GTCA | G | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.1697-829_1697-827d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | INFO_REALIGN_3_PRIME | chr2 | 208313462 | ||||||
| chr2:208313563 | T | A | 2 | a0001c0003t0001g0013 a0001c0003t0001g0029 |
2 | HG02280.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1697-731T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313563 | |||||||
| chr2:208313581 | A | AT | 16 | a0001c0001t0001g0102 a0001c0001t0001g0163 a0001c0001t0001g0203 others(13): Show |
16 | HG00438.hp2 HG01192.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.1697-694dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | INFO_REALIGN_3_PRIME | chr2 | 208313581 | ||||||
| chr2:208313581 | A | ATT | 10 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(7): Show |
10 | HG02055.hp1 HG02280.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1697-695_1697-694d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | INFO_REALIGN_3_PRIME | chr2 | 208313581 | ||||||
| chr2:208313682 | A | G | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1697-612A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313682 | |||||||
| chr2:208313727 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.1697-567C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313727 | |||||||
| chr2:208313859 | A | G | 1 | a0003c0004t0003g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1697-435A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313859 | |||||||
| chr2:208313861 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1697-433G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313861 | |||||||
| chr2:208313953 | T | A | 5 | a0001c0003t0007g0118 a0001c0003t0011g0115 a0001c0003t0011g0116 others(2): Show |
5 | HG02257.hp2 HG02647.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.1697-341T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208313953 | |||||||
| chr2:208314010 | G | C | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.1697-284G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208314010 | |||||||
| chr2:208314037 | C | T | 1 | a0002c0002t0002g0107 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1697-257C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208314037 | |||||||
| chr2:208314068 | C | T | 1 | a0001c0001t0026g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1697-226C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 13/41 | chr2 | 208314068 | |||||||
| chr2:208314555 | T | C | 2 | a0001c0003t0007g0151 a0001c0003t0007g0152 |
2 | HG02922.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1826+132T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208314555 | |||||||
| chr2:208314578 | T | C | 3 | a0003c0004t0003g0021 a0003c0004t0016g0023 a0003c0004t0017g0020 |
3 | NA18612.hp2 NA19010.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.1826+155T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208314578 | |||||||
| chr2:208314855 | C | T | 1 | a0003c0004t0003g0035 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1827-338C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208314855 | |||||||
| chr2:208314905 | AAAC | A | 242 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(239): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.1827-285_1827-283d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr2 | 208314905 | ||||||
| chr2:208314908 | C | A | 2 | a0001c0003t0001g0028 a0001c0003t0001g0262 |
2 | HG02559.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1827-285C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208314908 | |||||||
| chr2:208314951 | C | T | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1827-242C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208314951 | |||||||
| chr2:208315008 | A | G | 186 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(183): Show |
192 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
intron_variant | MODIFIER | c.1827-185A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208315008 | |||||||
| chr2:208315035 | G | A | 1 | a0001c0003t0007g0119 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1827-158G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208315035 | |||||||
| chr2:208315038 | C | G | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.1827-155C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208315038 | |||||||
| chr2:208315087 | C | T | 14 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(11): Show |
16 | HG01433.hp2 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.1827-106C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 14/41 | chr2 | 208315087 | |||||||
| chr2:208315396 | T | C | 2 | a0001c0003t0001g0013 a0001c0003t0001g0029 |
2 | HG02280.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.2007+23T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315396 | |||||||
| chr2:208315510 | C | CTTTG | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.2007+140_2007+143d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr2 | 208315510 | ||||||
| chr2:208315792 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2007+419C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315792 | |||||||
| chr2:208315824 | T | G | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.2007+451T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315824 | |||||||
| chr2:208315840 | A | AT | 241 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(238): Show |
254 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
intron_variant | MODIFIER | c.2007+478dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr2 | 208315840 | ||||||
| chr2:208315859 | T | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2007+486T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315859 | |||||||
| chr2:208315868 | T | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.2007+495T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315868 | |||||||
| chr2:208315880 | T | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.2007+507T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315880 | |||||||
| chr2:208315927 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2007+554G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208315927 | |||||||
| chr2:208316021 | A | C | 4 | a0001c0001t0008g0122 a0001c0001t0008g0136 a0001c0001t0008g0205 others(1): Show |
4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.2007+648A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316021 | |||||||
| chr2:208316121 | T | C | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.2007+748T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316121 | |||||||
| chr2:208316171 | C | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.2007+798C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316171 | |||||||
| chr2:208316190 | A | G | 1 | a0002c0002t0002g0108 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2007+817A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316190 | |||||||
| chr2:208316324 | C | T | 4 | a0001c0001t0008g0122 a0001c0001t0008g0136 a0001c0001t0008g0205 others(1): Show |
4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.2007+951C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316324 | |||||||
| chr2:208316367 | T | C | 1 | a0002c0002t0002g0216 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2007+994T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316367 | |||||||
| chr2:208316382 | G | T | 1 | a0002c0002t0002g0216 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2007+1009G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316382 | |||||||
| chr2:208316417 | G | C | 1 | a0001c0008t0001g0051 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2007+1044G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316417 | |||||||
| chr2:208316500 | A | C | 228 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(225): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.2007+1127A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316500 | |||||||
| chr2:208316584 | T | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2007+1211T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316584 | |||||||
| chr2:208316684 | A | G | 3 | a0003c0004t0009g0266 a0008c0009t0009g0251 a0008c0009t0009g0268 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2008-1183A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316684 | |||||||
| chr2:208316724 | T | G | 1 | a0001c0001t0001g0141 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2008-1143T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316724 | |||||||
| chr2:208316747 | A | G | 1 | a0001c0019t0001g0228 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2008-1120A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316747 | |||||||
| chr2:208316821 | T | C | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.2008-1046T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316821 | |||||||
| chr2:208316825 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2008-1042A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208316825 | |||||||
| chr2:208317042 | G | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.2008-825G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317042 | |||||||
| chr2:208317066 | G | A | 1 | a0001c0001t0001g0200 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.2008-801G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317066 | |||||||
| chr2:208317078 | G | A | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.2008-789G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317078 | |||||||
| chr2:208317106 | C | T | 29 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(26): Show |
36 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.2008-761C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317106 | |||||||
| chr2:208317130 | A | C | 1 | a0001c0001t0001g0184 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2008-737A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317130 | |||||||
| chr2:208317135 | G | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2008-732G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317135 | |||||||
| chr2:208317171 | G | T | 2 | a0001c0001t0001g0249 a0001c0001t0001g0250 |
2 | HG03139.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2008-696G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317171 | |||||||
| chr2:208317202 | C | T | 1 | a0003c0004t0003g0030 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.2008-665C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317202 | |||||||
| chr2:208317221 | C | T | 3 | a0001c0001t0001g0171 a0008c0009t0009g0251 a0008c0009t0009g0268 |
3 | HG00609.hp2 HG03490.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2008-646C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317221 | |||||||
| chr2:208317222 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2008-645G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317222 | |||||||
| chr2:208317241 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2008-626A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317241 | |||||||
| chr2:208317253 | C | G | 38 | a0001c0001t0001g0086 a0001c0003t0007g0118 a0001c0003t0007g0119 others(35): Show |
45 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.2008-614C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317253 | |||||||
| chr2:208317307 | A | C | 1 | a0001c0001t0001g0102 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2008-560A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317307 | |||||||
| chr2:208317316 | A | G | 1 | a0001c0001t0001g0102 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2008-551A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317316 | |||||||
| chr2:208317393 | T | G | 1 | a0004c0006t0004g0252 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2008-474T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317393 | |||||||
| chr2:208317430 | A | AT | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2008-427dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr2 | 208317430 | ||||||
| chr2:208317517 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2008-350A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317517 | |||||||
| chr2:208317672 | A | G | 6 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0031 others(3): Show |
6 | HG01496.hp2 HG01884.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.2008-195A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317672 | |||||||
| chr2:208317756 | A | G | 38 | a0001c0001t0001g0086 a0001c0003t0007g0118 a0001c0003t0007g0119 others(35): Show |
45 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.2008-111A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317756 | |||||||
| chr2:208317766 | A | G | 1 | a0003c0004t0005g0261 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2008-101A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317766 | |||||||
| chr2:208317775 | T | TA | 38 | a0001c0001t0001g0086 a0001c0003t0007g0118 a0001c0003t0007g0119 others(35): Show |
45 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.2008-84dupA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr2 | 208317775 | ||||||
| chr2:208317776 | A | T | 1 | a0001c0019t0001g0228 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2008-91A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317776 | |||||||
| chr2:208317818 | C | T | 1 | a0001c0003t0006g0027 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2008-49C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317818 | |||||||
| chr2:208317824 | A | G | 30 | a0001c0001t0001g0086 a0002c0002t0002g0002 a0002c0002t0002g0003 others(27): Show |
37 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.2008-43A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 15/41 | chr2 | 208317824 | |||||||
| chr2:208317953 | CAGTTCAG others(6): Show |
C | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.2082+22_2082+34del others(13): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | INFO_REALIGN_3_PRIME | chr2 | 208317953 | ||||||
| chr2:208317980 | A | G | 4 | a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0231 others(1): Show |
4 | HG00099.hp2 HG00140.hp1 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.2082+39A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208317980 | |||||||
| chr2:208318339 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2082+398T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318339 | |||||||
| chr2:208318585 | G | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2082+644G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318585 | |||||||
| chr2:208318630 | C | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2082+689C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318630 | |||||||
| chr2:208318755 | G | C | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.2082+814G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318755 | |||||||
| chr2:208318785 | G | C | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.2082+844G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318785 | |||||||
| chr2:208318808 | C | T | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.2082+867C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318808 | |||||||
| chr2:208318917 | G | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2082+976G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318917 | |||||||
| chr2:208318923 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.2082+982T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318923 | |||||||
| chr2:208318937 | C | T | 1 | a0001c0005t0001g0236 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2082+996C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318937 | |||||||
| chr2:208318950 | C | CA | 131 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Show |
136 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
intron_variant | MODIFIER | c.2082+1030dupA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | INFO_REALIGN_3_PRIME | chr2 | 208318950 | ||||||
| chr2:208318950 | C | CAA | 58 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0061 others(55): Show |
59 | HG00597.hp1 HG00735.hp2 HG01069.hp2 others(56): Show |
intron_variant | MODIFIER | c.2082+1029_2082+103 others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | INFO_REALIGN_3_PRIME | chr2 | 208318950 | ||||||
| chr2:208318950 | CA | C | 38 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(35): Show |
45 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.2082+1030delA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | INFO_REALIGN_3_PRIME | chr2 | 208318950 | ||||||
| chr2:208318972 | G | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.2082+1031G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318972 | |||||||
| chr2:208318997 | T | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2082+1056T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208318997 | |||||||
| chr2:208319038 | A | C | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.2082+1097A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319038 | |||||||
| chr2:208319184 | C | T | 1 | a0001c0001t0001g0071 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.2083-1068C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319184 | |||||||
| chr2:208319275 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2083-977A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319275 | |||||||
| chr2:208319316 | G | A | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2083-936G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319316 | |||||||
| chr2:208319510 | A | G | 75 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show |
80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.2083-742A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319510 | |||||||
| chr2:208319514 | T | C | 75 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show |
80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.2083-738T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319514 | |||||||
| chr2:208319661 | A | G | 2 | a0001c0003t0001g0013 a0001c0003t0001g0029 |
2 | HG02280.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.2083-591A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319661 | |||||||
| chr2:208319687 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2083-565A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319687 | |||||||
| chr2:208319839 | C | T | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2083-413C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319839 | |||||||
| chr2:208319940 | C | T | 2 | a0003c0004t0013g0263 a0003c0004t0013g0264 |
2 | HG01069.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2083-312C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319940 | |||||||
| chr2:208319950 | C | G | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.2083-302C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319950 | |||||||
| chr2:208319993 | A | T | 6 | a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 others(3): Show |
6 | HG02809.hp2 HG02896.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.2083-259A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208319993 | |||||||
| chr2:208320016 | A | G | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.2083-236A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208320016 | |||||||
| chr2:208320114 | A | G | 1 | a0002c0002t0002g0211 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2083-138A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208320114 | |||||||
| chr2:208320120 | A | G | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.2083-132A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208320120 | |||||||
| chr2:208320122 | A | C | 1 | a0001c0001t0001g0103 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2083-130A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 16/41 | chr2 | 208320122 | |||||||
| chr2:208320475 | G | C | 1 | a0001c0001t0001g0193 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2190+116G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320475 | |||||||
| chr2:208320479 | G | C | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.2190+120G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320479 | |||||||
| chr2:208320507 | T | A | 1 | a0001c0001t0001g0062 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2190+148T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320507 | |||||||
| chr2:208320519 | A | G | 1 | a0001c0001t0001g0179 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.2190+160A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320519 | |||||||
| chr2:208320631 | C | T | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.2190+272C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320631 | |||||||
| chr2:208320824 | G | A | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.2190+465G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320824 | |||||||
| chr2:208320842 | C | T | 1 | a0001c0001t0001g0057 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2190+483C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320842 | |||||||
| chr2:208320878 | G | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.2190+519G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320878 | |||||||
| chr2:208320950 | C | T | 52 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0123 others(49): Show |
53 | HG00597.hp1 HG00735.hp2 HG01069.hp2 others(50): Show |
intron_variant | MODIFIER | c.2190+591C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208320950 | |||||||
| chr2:208321000 | G | C | 2 | a0001c0008t0001g0051 a0001c0008t0001g0063 |
2 | HG01256.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2190+641G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321000 | |||||||
| chr2:208321006 | C | G | 1 | a0001c0001t0001g0204 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2190+647C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321006 | |||||||
| chr2:208321007 | A | C | 4 | a0001c0001t0008g0122 a0001c0001t0008g0136 a0001c0001t0008g0205 others(1): Show |
4 | HG02738.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.2190+648A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321007 | |||||||
| chr2:208321057 | A | G | 1 | a0001c0001t0001g0057 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2190+698A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321057 | |||||||
| chr2:208321398 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2190+1039A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321398 | |||||||
| chr2:208321399 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2190+1040A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321399 | |||||||
| chr2:208321449 | G | A | 51 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0112 others(48): Show |
51 | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(48): Show |
intron_variant | MODIFIER | c.2190+1090G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321449 | |||||||
| chr2:208321575 | G | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2190+1216G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321575 | |||||||
| chr2:208321575 | GTTTTT | G | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.2190+1231_2190+123 others(9): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208321575 | ||||||
| chr2:208321576 | T | TTTTC | 15 | a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0155 others(12): Show |
16 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(13): Show |
intron_variant | MODIFIER | c.2190+1220_2190+122 others(8): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208321576 | ||||||
| chr2:208321577 | T | TTTC | 227 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(224): Show |
239 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(236): Show |
intron_variant | MODIFIER | c.2190+1220_2190+122 others(7): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208321577 | ||||||
| chr2:208321642 | A | G | 3 | a0004c0006t0004g0004 a0004c0006t0004g0254 a0004c0006t0004g0255 |
5 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.2190+1283A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321642 | |||||||
| chr2:208321663 | T | C | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.2190+1304T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321663 | |||||||
| chr2:208321736 | C | T | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2190+1377C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208321736 | |||||||
| chr2:208322212 | C | T | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.2190+1853C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322212 | |||||||
| chr2:208322374 | T | TA | 180 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(177): Show |
188 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
intron_variant | MODIFIER | c.2191-1744dupA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208322374 | ||||||
| chr2:208322374 | T | TAA | 19 | a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0091 others(16): Show |
19 | HG00609.hp1 HG01070.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.2191-1745_2191-174 others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208322374 | ||||||
| chr2:208322374 | T | TAAA | 10 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(7): Show |
10 | HG00621.hp1 HG02559.hp2 HG02976.hp2 others(7): Show |
intron_variant | MODIFIER | c.2191-1746_2191-174 others(7): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208322374 | ||||||
| chr2:208322437 | G | GT | 8 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(5): Show |
8 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.2191-1698dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208322437 | ||||||
| chr2:208322582 | A | C | 1 | a0001c0001t0026g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2191-1560A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322582 | |||||||
| chr2:208322600 | C | G | 1 | a0001c0001t0001g0186 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.2191-1542C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322600 | |||||||
| chr2:208322686 | G | GAT | 36 | a0001c0001t0001g0094 a0001c0001t0020g0093 a0001c0003t0007g0118 others(33): Show |
43 | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(40): Show |
intron_variant | MODIFIER | c.2191-1441_2191-144 others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208322686 | ||||||
| chr2:208322701 | A | T | 1 | a0001c0005t0001g0240 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2191-1441A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322701 | |||||||
| chr2:208322703 | T | A | 246 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(243): Show |
259 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
intron_variant | MODIFIER | c.2191-1439T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322703 | |||||||
| chr2:208322727 | A | C | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.2191-1415A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322727 | |||||||
| chr2:208322768 | A | T | 2 | a0001c0001t0001g0187 a0001c0001t0001g0198 |
2 | HG01175.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.2191-1374A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322768 | |||||||
| chr2:208322783 | A | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.2191-1359A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322783 | |||||||
| chr2:208322871 | G | A | 1 | a0001c0001t0001g0153 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2191-1271G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322871 | |||||||
| chr2:208322899 | G | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.2191-1243G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322899 | |||||||
| chr2:208322909 | A | G | 1 | a0005c0010t0005g0259 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2191-1233A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322909 | |||||||
| chr2:208322983 | T | A | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.2191-1159T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208322983 | |||||||
| chr2:208323050 | A | G | 3 | a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0001g0192 |
3 | HG02717.hp2 HG03225.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2191-1092A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323050 | |||||||
| chr2:208323096 | A | C | 3 | a0003c0004t0009g0266 a0008c0009t0009g0251 a0008c0009t0009g0268 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2191-1046A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323096 | |||||||
| chr2:208323118 | G | T | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.2191-1024G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323118 | |||||||
| chr2:208323190 | G | A | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.2191-952G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323190 | |||||||
| chr2:208323196 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2191-946G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323196 | |||||||
| chr2:208323339 | G | C | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.2191-803G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323339 | |||||||
| chr2:208323380 | G | A | 2 | a0002c0002t0002g0011 a0002c0002t0002g0214 |
3 | HG00735.hp1 HG01074.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.2191-762G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323380 | |||||||
| chr2:208323380 | G | C | 1 | a0001c0001t0001g0133 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2191-762G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323380 | |||||||
| chr2:208323405 | A | C | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.2191-737A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323405 | |||||||
| chr2:208323479 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2191-663A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323479 | |||||||
| chr2:208323733 | A | C | 1 | a0001c0001t0001g0141 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2191-409A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323733 | |||||||
| chr2:208323908 | C | A | 1 | a0001c0003t0001g0269 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2191-234C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323908 | |||||||
| chr2:208323911 | T | G | 1 | a0001c0001t0001g0123 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2191-231T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323911 | |||||||
| chr2:208323936 | C | T | 104 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0074 others(101): Show |
105 | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.2191-206C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323936 | |||||||
| chr2:208323954 | GTTGT | G | 207 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(204): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.2191-181_2191-178d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | 208323954 | ||||||
| chr2:208323988 | T | A | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2191-154T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208323988 | |||||||
| chr2:208324062 | C | G | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2191-80C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208324062 | |||||||
| chr2:208324127 | A | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.2191-15A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 17/41 | chr2 | 208324127 | |||||||
| chr2:208324294 | T | A | 1 | a0001c0001t0001g0099 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.2331+12T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324294 | |||||||
| chr2:208324380 | T | C | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2331+98T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324380 | |||||||
| chr2:208324553 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2331+271A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324553 | |||||||
| chr2:208324582 | G | A | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.2331+300G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324582 | |||||||
| chr2:208324718 | T | C | 207 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(204): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.2332-193T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324718 | |||||||
| chr2:208324763 | A | T | 1 | a0001c0001t0001g0083 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2332-148A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324763 | |||||||
| chr2:208324861 | G | T | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2332-50G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 18/41 | chr2 | 208324861 | |||||||
| chr2:208325188 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.2459-82A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 19/41 | chr2 | 208325188 | |||||||
| chr2:208325248 | TTC | T | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459-20_2459-19del others(2): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr2 | 208325248 | ||||||
| chr2:208326702 | G | A | 1 | a0001c0001t0001g0200 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3618+273G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208326702 | |||||||
| chr2:208326721 | A | G | 2 | a0001c0003t0001g0269 a0001c0003t0001g0270 |
2 | HG02647.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3618+292A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208326721 | |||||||
| chr2:208326839 | C | T | 2 | a0008c0009t0009g0251 a0008c0009t0009g0268 |
2 | HG03490.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.3618+410C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208326839 | |||||||
| chr2:208327037 | G | A | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.3618+608G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327037 | |||||||
| chr2:208327292 | C | T | 1 | a0009c0015t0005g0265 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3618+863C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327292 | |||||||
| chr2:208327471 | C | G | 1 | a0001c0001t0001g0170 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.3619-709C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327471 | |||||||
| chr2:208327528 | G | T | 2 | a0003c0004t0005g0260 a0003c0004t0005g0261 |
2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.3619-652G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327528 | |||||||
| chr2:208327657 | G | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3619-523G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327657 | |||||||
| chr2:208327733 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3619-447G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327733 | |||||||
| chr2:208327921 | G | C | 1 | a0001c0001t0001g0249 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3619-259G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327921 | |||||||
| chr2:208327925 | A | G | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3619-255A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 20/41 | chr2 | 208327925 | |||||||
| chr2:208328461 | C | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3719+181C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208328461 | |||||||
| chr2:208328654 | C | T | 1 | a0001c0003t0001g0028 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3719+374C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208328654 | |||||||
| chr2:208328692 | G | A | 1 | a0001c0001t0001g0042 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3719+412G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208328692 | |||||||
| chr2:208328773 | G | A | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.3719+493G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208328773 | |||||||
| chr2:208328812 | A | G | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.3719+532A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208328812 | |||||||
| chr2:208328899 | G | C | 2 | a0001c0003t0001g0028 a0001c0003t0001g0262 |
2 | HG02559.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3719+619G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208328899 | |||||||
| chr2:208329202 | A | G | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.3720-640A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208329202 | |||||||
| chr2:208329288 | G | A | 3 | a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0229 |
3 | HG00621.hp2 HG02015.hp2 HG02027.hp2 |
intron_variant | MODIFIER | c.3720-554G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208329288 | |||||||
| chr2:208329331 | A | T | 272 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(269): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
intron_variant | MODIFIER | c.3720-511A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208329331 | |||||||
| chr2:208329384 | A | C | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.3720-458A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208329384 | |||||||
| chr2:208329397 | A | G | 1 | a0002c0002t0002g0108 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3720-445A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208329397 | |||||||
| chr2:208329560 | C | T | 1 | a0002c0002t0002g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3720-282C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 21/41 | chr2 | 208329560 | |||||||
| chr2:208329935 | C | T | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3791+22C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208329935 | |||||||
| chr2:208329972 | G | C | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.3791+59G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208329972 | |||||||
| chr2:208330021 | C | G | 1 | a0001c0001t0010g0138 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.3791+108C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330021 | |||||||
| chr2:208330040 | A | C | 1 | a0005c0023t0005g0257 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3791+127A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330040 | |||||||
| chr2:208330113 | T | C | 1 | a0001c0001t0001g0140 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.3791+200T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330113 | |||||||
| chr2:208330121 | C | T | 1 | a0001c0001t0001g0161 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.3791+208C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330121 | |||||||
| chr2:208330255 | A | G | 26 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(23): Show |
33 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.3792-268A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330255 | |||||||
| chr2:208330375 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3792-148G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330375 | |||||||
| chr2:208330409 | T | C | 215 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(212): Show |
228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.3792-114T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 22/41 | chr2 | 208330409 | |||||||
| chr2:208330705 | C | A | 1 | a0001c0003t0006g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3963+11C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208330705 | |||||||
| chr2:208330711 | A | C | 1 | a0004c0006t0004g0252 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3963+17A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208330711 | |||||||
| chr2:208330748 | G | GT | 39 | a0001c0001t0001g0100 a0001c0001t0001g0148 a0001c0003t0007g0118 others(36): Show |
46 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.3963+66dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | INFO_REALIGN_3_PRIME | chr2 | 208330748 | ||||||
| chr2:208330767 | G | GAGA | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3963+75_3963+76ins others(3): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | INFO_REALIGN_3_PRIME | chr2 | 208330767 | ||||||
| chr2:208330921 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3963+227C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208330921 | |||||||
| chr2:208331000 | T | C | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.3963+306T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331000 | |||||||
| chr2:208331079 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3963+385A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331079 | |||||||
| chr2:208331303 | T | A | 215 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(212): Show |
228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.3963+609T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331303 | |||||||
| chr2:208331365 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3963+671C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331365 | |||||||
| chr2:208331414 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3963+720A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331414 | |||||||
| chr2:208331420 | C | T | 2 | a0001c0001t0001g0162 a0001c0001t0001g0196 |
2 | HG01255.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.3963+726C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331420 | |||||||
| chr2:208331421 | G | A | 40 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0099 others(37): Show |
41 | HG00597.hp1 HG01069.hp2 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.3963+727G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331421 | |||||||
| chr2:208331618 | C | T | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.3963+924C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331618 | |||||||
| chr2:208331673 | G | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.3963+979G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331673 | |||||||
| chr2:208331862 | C | T | 1 | a0001c0001t0001g0085 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3963+1168C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331862 | |||||||
| chr2:208331984 | T | C | 1 | a0002c0002t0002g0216 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3963+1290T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331984 | |||||||
| chr2:208331985 | A | G | 8 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(5): Show |
8 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.3963+1291A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208331985 | |||||||
| chr2:208332006 | A | G | 3 | a0001c0003t0001g0272 a0001c0003t0012g0271 a0001c0003t0012g0273 |
3 | HG02572.hp2 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3964-1309A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332006 | |||||||
| chr2:208332008 | ACTT | A | 4 | a0001c0003t0006g0024 a0001c0003t0006g0025 a0001c0003t0006g0026 others(1): Show |
4 | HG02257.hp1 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.3964-1304_3964-130 others(7): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | INFO_REALIGN_3_PRIME | chr2 | 208332008 | ||||||
| chr2:208332013 | T | A | 1 | a0001c0005t0001g0247 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3964-1302T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332013 | |||||||
| chr2:208332093 | A | G | 1 | a0001c0001t0001g0062 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3964-1222A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332093 | |||||||
| chr2:208332133 | A | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3964-1182A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332133 | |||||||
| chr2:208332161 | G | A | 1 | a0004c0006t0004g0254 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3964-1154G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332161 | |||||||
| chr2:208332233 | G | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.3964-1082G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332233 | |||||||
| chr2:208332542 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.3964-773G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332542 | |||||||
| chr2:208332549 | A | G | 17 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(14): Show |
17 | HG01496.hp2 HG01884.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.3964-766A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332549 | |||||||
| chr2:208332820 | G | A | 1 | a0001c0001t0001g0179 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.3964-495G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332820 | |||||||
| chr2:208332919 | T | C | 2 | a0001c0001t0001g0249 a0001c0001t0001g0250 |
2 | HG03139.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3964-396T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332919 | |||||||
| chr2:208332929 | G | A | 1 | a0001c0003t0001g0029 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3964-386G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208332929 | |||||||
| chr2:208333030 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3964-285C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333030 | |||||||
| chr2:208333051 | C | T | 2 | a0001c0003t0006g0025 a0001c0003t0006g0026 |
2 | HG02257.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3964-264C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333051 | |||||||
| chr2:208333090 | C | T | 1 | a0002c0002t0002g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3964-225C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333090 | |||||||
| chr2:208333095 | G | A | 1 | a0003c0004t0003g0036 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3964-220G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333095 | |||||||
| chr2:208333102 | C | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3964-213C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333102 | |||||||
| chr2:208333103 | G | A | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3964-212G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333103 | |||||||
| chr2:208333220 | C | T | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.3964-95C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333220 | |||||||
| chr2:208333276 | C | T | 23 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(20): Show |
28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.3964-39C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 23/41 | chr2 | 208333276 | |||||||
| chr2:208333565 | A | G | 1 | a0001c0001t0001g0144 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.4142+72A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208333565 | |||||||
| chr2:208333567 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4142+74C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208333567 | |||||||
| chr2:208333768 | G | A | 2 | a0001c0005t0001g0238 a0001c0005t0001g0243 |
2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.4142+275G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208333768 | |||||||
| chr2:208333882 | A | C | 1 | a0009c0015t0005g0265 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4142+389A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208333882 | |||||||
| chr2:208334041 | A | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.4142+548A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334041 | |||||||
| chr2:208334200 | A | G | 3 | a0001c0003t0001g0272 a0001c0003t0012g0271 a0001c0003t0012g0273 |
3 | HG02572.hp2 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4142+707A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334200 | |||||||
| chr2:208334314 | C | G | 1 | a0012c0022t0001g0149 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4142+821C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334314 | |||||||
| chr2:208334579 | C | G | 3 | a0001c0003t0001g0272 a0001c0003t0012g0271 a0001c0003t0012g0273 |
3 | HG02572.hp2 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4143-727C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334579 | |||||||
| chr2:208334585 | T | C | 2 | a0001c0001t0001g0182 a0001c0001t0001g0183 |
2 | HG02071.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.4143-721T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334585 | |||||||
| chr2:208334643 | C | G | 1 | a0012c0022t0001g0149 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4143-663C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334643 | |||||||
| chr2:208334943 | C | G | 2 | a0001c0001t0001g0010 a0001c0001t0001g0225 |
3 | HG01069.hp2 HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.4143-363C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334943 | |||||||
| chr2:208334945 | T | C | 1 | a0001c0008t0001g0063 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.4143-361T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208334945 | |||||||
| chr2:208335062 | G | C | 29 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(26): Show |
29 | HG02109.hp1 HG02257.hp1 HG02258.hp2 others(26): Show |
intron_variant | MODIFIER | c.4143-244G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208335062 | |||||||
| chr2:208335221 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.4143-85A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208335221 | |||||||
| chr2:208335294 | T | G | 1 | a0001c0001t0008g0136 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.4143-12T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 24/41 | chr2 | 208335294 | |||||||
| chr2:208335599 | T | C | 1 | a0001c0005t0001g0242 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4256+180T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 25/41 | chr2 | 208335599 | |||||||
| chr2:208335670 | A | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.4257-123A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 25/41 | chr2 | 208335670 | |||||||
| chr2:208336009 | A | G | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.4366-37A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 26/41 | chr2 | 208336009 | |||||||
| chr2:208336330 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.4520+130T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 27/41 | chr2 | 208336330 | |||||||
| chr2:208336607 | C | A | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.4521-231C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 27/41 | chr2 | 208336607 | |||||||
| chr2:208337015 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.4611+87T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337015 | |||||||
| chr2:208337101 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4611+173A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337101 | |||||||
| chr2:208337105 | C | A | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.4611+177C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337105 | |||||||
| chr2:208337414 | A | C | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.4611+486A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337414 | |||||||
| chr2:208337426 | A | G | 8 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(5): Show |
8 | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.4611+498A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337426 | |||||||
| chr2:208337433 | T | C | 1 | a0001c0001t0001g0001 | 3 | HG00099.hp1 HG01169.hp1 HG01257.hp2 |
intron_variant | MODIFIER | c.4611+505T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337433 | |||||||
| chr2:208337458 | A | G | 6 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0031 others(3): Show |
6 | HG01496.hp2 HG01884.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.4611+530A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337458 | |||||||
| chr2:208337504 | A | T | 1 | a0001c0001t0001g0169 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.4611+576A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337504 | |||||||
| chr2:208337514 | T | TATAG | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.4611+589_4611+592d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | 208337514 | ||||||
| chr2:208337528 | T | C | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.4611+600T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337528 | |||||||
| chr2:208337529 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.4611+601A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337529 | |||||||
| chr2:208337586 | G | GATCT | 3 | a0003c0004t0003g0021 a0003c0004t0016g0023 a0003c0004t0017g0020 |
3 | NA18612.hp2 NA19010.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.4611+668_4611+671d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | 208337586 | ||||||
| chr2:208337652 | A | G | 3 | a0001c0003t0001g0272 a0001c0003t0012g0271 a0001c0003t0012g0273 |
3 | HG02572.hp2 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4611+724A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337652 | |||||||
| chr2:208337727 | T | A | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.4612-781T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337727 | |||||||
| chr2:208337785 | G | A | 1 | a0001c0001t0001g0124 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.4612-723G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337785 | |||||||
| chr2:208337967 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.4612-541T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208337967 | |||||||
| chr2:208338016 | C | T | 1 | a0001c0001t0001g0168 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.4612-492C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208338016 | |||||||
| chr2:208338200 | C | T | 1 | a0001c0001t0001g0066 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.4612-308C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208338200 | |||||||
| chr2:208338216 | A | T | 1 | a0001c0001t0001g0218 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4612-292A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208338216 | |||||||
| chr2:208338290 | C | T | 1 | a0001c0001t0001g0070 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.4612-218C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208338290 | |||||||
| chr2:208338398 | C | G | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.4612-110C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208338398 | |||||||
| chr2:208338451 | T | A | 3 | a0003c0004t0003g0021 a0003c0004t0016g0023 a0003c0004t0017g0020 |
3 | NA18612.hp2 NA19010.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.4612-57T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 28/41 | chr2 | 208338451 | |||||||
| chr2:208338626 | A | G | 3 | a0001c0001t0008g0122 a0001c0001t0008g0205 a0001c0001t0008g0206 |
3 | HG02738.hp1 HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.4672+58A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 29/41 | chr2 | 208338626 | |||||||
| chr2:208338801 | A | G | 4 | a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0231 others(1): Show |
4 | HG00099.hp2 HG00140.hp1 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.4672+233A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 29/41 | chr2 | 208338801 | |||||||
| chr2:208338927 | C | T | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.4672+359C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 29/41 | chr2 | 208338927 | |||||||
| chr2:208339058 | T | C | 10 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(7): Show |
10 | HG02055.hp1 HG02451.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4673-360T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 29/41 | chr2 | 208339058 | |||||||
| chr2:208339236 | T | C | 2 | a0001c0001t0001g0182 a0001c0001t0001g0183 |
2 | HG02071.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.4673-182T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 29/41 | chr2 | 208339236 | |||||||
| chr2:208339595 | A | G | 23 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(20): Show |
28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.4810+40A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 30/41 | chr2 | 208339595 | |||||||
| chr2:208339819 | A | G | 3 | a0004c0006t0004g0004 a0004c0006t0004g0254 a0004c0006t0004g0255 |
5 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.4811-192A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 30/41 | chr2 | 208339819 | |||||||
| chr2:208339836 | C | G | 23 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(20): Show |
28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.4811-175C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 30/41 | chr2 | 208339836 | |||||||
| chr2:208339990 | G | A | 59 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(56): Show |
63 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(60): Show |
intron_variant | MODIFIER | c.4811-21G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 30/41 | chr2 | 208339990 | |||||||
| chr2:208340666 | A | G | 2 | a0001c0001t0001g0037 a0001c0001t0001g0095 |
2 | HG03486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.4931+535A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208340666 | |||||||
| chr2:208340774 | C | A | 1 | a0001c0001t0010g0138 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.4931+643C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208340774 | |||||||
| chr2:208340800 | G | A | 3 | a0006c0007t0001g0075 a0006c0007t0001g0078 a0006c0007t0001g0105 |
3 | NA18747.hp2 NA18978.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.4931+669G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208340800 | |||||||
| chr2:208340898 | A | G | 1 | a0003c0004t0003g0035 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4931+767A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208340898 | |||||||
| chr2:208341227 | C | T | 1 | a0001c0001t0001g0132 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4931+1096C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341227 | |||||||
| chr2:208341249 | C | G | 186 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(183): Show |
192 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
intron_variant | MODIFIER | c.4931+1118C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341249 | |||||||
| chr2:208341291 | G | A | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.4931+1160G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341291 | |||||||
| chr2:208341467 | A | G | 2 | a0001c0001t0001g0010 a0001c0001t0001g0225 |
3 | HG01069.hp2 HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.4932-1087A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341467 | |||||||
| chr2:208341577 | A | G | 1 | a0001c0001t0001g0057 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4932-977A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341577 | |||||||
| chr2:208341607 | G | A | 1 | a0001c0005t0001g0245 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.4932-947G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341607 | |||||||
| chr2:208341734 | T | C | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.4932-820T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341734 | |||||||
| chr2:208341780 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4932-774A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341780 | |||||||
| chr2:208341827 | A | G | 245 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(242): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.4932-727A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341827 | |||||||
| chr2:208341909 | A | G | 52 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0112 others(49): Show |
52 | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.4932-645A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208341909 | |||||||
| chr2:208341953 | A | AT | 242 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(239): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.4932-591dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | INFO_REALIGN_3_PRIME | chr2 | 208341953 | ||||||
| chr2:208342035 | G | T | 1 | a0001c0001t0001g0153 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4932-519G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208342035 | |||||||
| chr2:208342541 | A | C | 1 | a0001c0001t0001g0146 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.4932-13A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 31/41 | chr2 | 208342541 | |||||||
| chr2:208342710 | T | A | 1 | a0002c0002t0002g0111 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5027+61T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208342710 | |||||||
| chr2:208342781 | G | A | 2 | a0001c0003t0001g0028 a0001c0003t0001g0262 |
2 | HG02559.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5027+132G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208342781 | |||||||
| chr2:208342794 | C | CT | 134 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(131): Show |
138 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
intron_variant | MODIFIER | c.5027+163dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | 208342794 | ||||||
| chr2:208342794 | C | CTTT | 53 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(50): Show |
55 | HG00597.hp1 HG00735.hp2 HG01069.hp2 others(52): Show |
intron_variant | MODIFIER | c.5027+161_5027+163d others(5): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | 208342794 | ||||||
| chr2:208342938 | A | G | 272 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(269): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
intron_variant | MODIFIER | c.5027+289A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208342938 | |||||||
| chr2:208342953 | C | T | 1 | a0003c0004t0009g0266 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5027+304C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208342953 | |||||||
| chr2:208342983 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5027+334T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208342983 | |||||||
| chr2:208342995 | A | G | 6 | a0004c0006t0004g0004 a0004c0006t0004g0252 a0004c0006t0004g0253 others(3): Show |
8 | HG01433.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.5027+346A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208342995 | |||||||
| chr2:208343003 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(265): Show |
281 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
intron_variant | MODIFIER | c.5027+354T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343003 | |||||||
| chr2:208343037 | C | T | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.5027+388C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343037 | |||||||
| chr2:208343086 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5027+437T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343086 | |||||||
| chr2:208343138 | A | G | 5 | a0001c0003t0007g0118 a0001c0003t0011g0115 a0001c0003t0011g0116 others(2): Show |
5 | HG02257.hp2 HG02647.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.5027+489A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343138 | |||||||
| chr2:208343348 | C | G | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5027+699C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343348 | |||||||
| chr2:208343391 | A | G | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.5027+742A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343391 | |||||||
| chr2:208343552 | C | T | 4 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(1): Show |
4 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.5027+903C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343552 | |||||||
| chr2:208343553 | A | G | 4 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(1): Show |
4 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.5027+904A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343553 | |||||||
| chr2:208343567 | G | A | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.5027+918G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343567 | |||||||
| chr2:208343592 | A | C | 1 | a0001c0003t0006g0026 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5027+943A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343592 | |||||||
| chr2:208343610 | G | C | 4 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(1): Show |
4 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.5027+961G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343610 | |||||||
| chr2:208343686 | A | G | 19 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(16): Show |
21 | HG01433.hp2 HG02257.hp2 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.5027+1037A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343686 | |||||||
| chr2:208343709 | A | G | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.5027+1060A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343709 | |||||||
| chr2:208343833 | CT | C | 231 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(228): Show |
244 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
intron_variant | MODIFIER | c.5027+1200delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | 208343833 | ||||||
| chr2:208343864 | C | G | 4 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(1): Show |
4 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.5027+1215C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343864 | |||||||
| chr2:208343936 | G | A | 23 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(20): Show |
28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.5028-1175G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208343936 | |||||||
| chr2:208344018 | C | A | 23 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(20): Show |
28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.5028-1093C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344018 | |||||||
| chr2:208344132 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5028-979C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344132 | |||||||
| chr2:208344133 | A | G | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.5028-978A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344133 | |||||||
| chr2:208344383 | A | C | 1 | a0002c0002t0002g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.5028-728A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344383 | |||||||
| chr2:208344397 | T | A | 1 | a0001c0001t0001g0062 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.5028-714T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344397 | |||||||
| chr2:208344423 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5028-688G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344423 | |||||||
| chr2:208344500 | A | G | 2 | a0003c0004t0003g0030 a0003c0004t0003g0036 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.5028-611A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344500 | |||||||
| chr2:208344568 | A | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5028-543A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344568 | |||||||
| chr2:208344675 | G | GT | 9 | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0189 others(6): Show |
9 | HG01496.hp1 HG02572.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.5028-424dupT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | 208344675 | ||||||
| chr2:208344720 | TC | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5028-387delC | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | 208344720 | ||||||
| chr2:208344812 | G | C | 3 | a0004c0006t0004g0004 a0004c0006t0004g0254 a0004c0006t0004g0255 |
5 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.5028-299G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344812 | |||||||
| chr2:208344926 | A | T | 2 | a0002c0002t0002g0106 a0002c0002t0002g0108 |
2 | HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5028-185A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208344926 | |||||||
| chr2:208345075 | A | G | 1 | a0003c0004t0005g0261 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.5028-36A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208345075 | |||||||
| chr2:208345103 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
splice_region_variant&intron_variant | LOW | c.5028-8G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 32/41 | chr2 | 208345103 | |||||||
| chr2:208345273 | C | T | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.5111+79C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 33/41 | chr2 | 208345273 | |||||||
| chr2:208345383 | C | T | 1 | a0001c0003t0001g0272 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5111+189C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 33/41 | chr2 | 208345383 | |||||||
| chr2:208345412 | G | A | 3 | a0003c0004t0009g0266 a0008c0009t0009g0251 a0008c0009t0009g0268 |
3 | HG03490.hp1 HG03834.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5111+218G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 33/41 | chr2 | 208345412 | |||||||
| chr2:208346152 | G | A | 1 | a0001c0003t0007g0151 | 1 | HG02922.hp2 | splice_region_variant&intron_variant | LOW | c.5209+5G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346152 | |||||||
| chr2:208346199 | G | A | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.5209+52G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346199 | |||||||
| chr2:208346251 | ACTACTTA others(4): Show |
A | 2 | a0001c0001t0001g0081 a0001c0001t0001g0082 |
2 | HG01255.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.5209+107_5209+117d others(13): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | INFO_REALIGN_3_PRIME | chr2 | 208346251 | ||||||
| chr2:208346274 | A | C | 2 | a0007c0011t0001g0113 a0007c0011t0001g0120 |
2 | HG02258.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.5209+127A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346274 | |||||||
| chr2:208346285 | T | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5209+138T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346285 | |||||||
| chr2:208346297 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.5209+150C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346297 | |||||||
| chr2:208346326 | T | C | 39 | a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0007g0118 others(36): Show |
46 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.5209+179T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346326 | |||||||
| chr2:208346460 | G | A | 271 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(268): Show |
284 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
intron_variant | MODIFIER | c.5209+313G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346460 | |||||||
| chr2:208346583 | A | G | 2 | a0002c0002t0002g0003 a0002c0002t0002g0121 |
4 | HG01070.hp1 HG01071.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.5209+436A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346583 | |||||||
| chr2:208346915 | G | A | 3 | a0004c0006t0004g0252 a0004c0006t0004g0253 a0004c0006t0004g0256 |
3 | HG01433.hp2 HG02258.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.5209+768G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208346915 | |||||||
| chr2:208347097 | C | T | 1 | a0001c0001t0001g0090 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.5210-762C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347097 | |||||||
| chr2:208347398 | G | C | 1 | a0002c0002t0002g0111 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5210-461G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347398 | |||||||
| chr2:208347566 | C | G | 16 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(13): Show |
16 | HG02109.hp1 HG02258.hp2 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.5210-293C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347566 | |||||||
| chr2:208347579 | T | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5210-280T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347579 | |||||||
| chr2:208347642 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5210-217G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347642 | |||||||
| chr2:208347793 | G | A | 1 | a0001c0001t0001g0161 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.5210-66G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347793 | |||||||
| chr2:208347807 | T | G | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.5210-52T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 34/41 | chr2 | 208347807 | |||||||
| chr2:208348045 | G | A | 2 | a0001c0008t0001g0051 a0001c0008t0001g0063 |
2 | HG01256.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.5374+22G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348045 | |||||||
| chr2:208348264 | G | A | 3 | a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0212 |
3 | HG01975.hp1 HG02083.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.5374+241G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348264 | |||||||
| chr2:208348345 | T | C | 8 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(5): Show |
8 | HG02257.hp1 HG02280.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.5374+322T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348345 | |||||||
| chr2:208348599 | A | AGT | 36 | a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0064 others(33): Show |
36 | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(33): Show |
intron_variant | MODIFIER | c.5374+613_5374+614d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGT | 56 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(53): Show |
59 | HG00099.hp1 HG00544.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.5374+611_5374+614d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGT | 42 | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 others(39): Show |
42 | HG00140.hp2 HG00280.hp1 HG00609.hp1 others(39): Show |
intron_variant | MODIFIER | c.5374+609_5374+614d others(8): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGTG others(1): Show |
21 | a0001c0001t0001g0007 a0001c0001t0001g0157 a0001c0001t0001g0190 others(18): Show |
22 | HG01069.hp1 HG01070.hp2 HG01433.hp2 others(19): Show |
intron_variant | MODIFIER | c.5374+607_5374+614d others(10): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGTG others(3): Show |
15 | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 others(12): Show |
17 | HG01109.hp2 HG02055.hp2 HG02280.hp2 others(14): Show |
intron_variant | MODIFIER | c.5374+605_5374+614d others(12): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGTG others(5): Show |
10 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0134 others(7): Show |
10 | HG00735.hp2 HG01256.hp1 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.5374+603_5374+614d others(14): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGTG others(7): Show |
7 | a0001c0001t0001g0009 a0001c0001t0001g0135 a0001c0001t0001g0137 others(4): Show |
7 | HG00597.hp1 HG01123.hp2 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.5374+601_5374+614d others(16): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGTG others(9): Show |
5 | a0001c0001t0001g0010 a0001c0001t0001g0130 a0001c0001t0001g0193 others(2): Show |
6 | HG01069.hp2 HG01071.hp2 HG01074.hp2 others(3): Show |
intron_variant | MODIFIER | c.5374+599_5374+614d others(18): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | A | AGTGTGTG others(11): Show |
2 | a0001c0001t0001g0131 a0001c0001t0001g0141 |
2 | HG01257.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.5374+597_5374+614d others(20): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | AGT | A | 9 | a0001c0001t0001g0038 a0001c0001t0001g0218 a0001c0001t0001g0227 others(6): Show |
9 | HG00621.hp2 HG01884.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.5374+613_5374+614d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | AGTGT | A | 7 | a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0001t0001g0185 others(4): Show |
7 | HG02015.hp2 HG02027.hp2 HG02523.hp2 others(4): Show |
intron_variant | MODIFIER | c.5374+611_5374+614d others(6): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348599 | AGTGTGTG others(5): Show |
A | 1 | a0001c0001t0001g0250 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5374+603_5374+614d others(14): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | 208348599 | ||||||
| chr2:208348714 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.5374+691G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348714 | |||||||
| chr2:208348852 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5374+829G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348852 | |||||||
| chr2:208348895 | G | A | 1 | a0001c0001t0001g0048 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5374+872G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348895 | |||||||
| chr2:208348897 | C | T | 1 | a0005c0023t0005g0257 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5374+874C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348897 | |||||||
| chr2:208348968 | G | T | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5374+945G>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208348968 | |||||||
| chr2:208349019 | C | T | 1 | a0002c0002t0002g0217 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.5374+996C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349019 | |||||||
| chr2:208349080 | A | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5375-944A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349080 | |||||||
| chr2:208349215 | C | T | 39 | a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0007g0118 others(36): Show |
46 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.5375-809C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349215 | |||||||
| chr2:208349413 | A | T | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5375-611A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349413 | |||||||
| chr2:208349536 | G | A | 1 | a0001c0005t0001g0240 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.5375-488G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349536 | |||||||
| chr2:208349656 | A | C | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5375-368A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349656 | |||||||
| chr2:208349683 | G | A | 18 | a0001c0003t0001g0199 a0001c0003t0001g0202 a0002c0002t0002g0002 others(15): Show |
23 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.5375-341G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349683 | |||||||
| chr2:208349742 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5375-282A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349742 | |||||||
| chr2:208349850 | G | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5375-174G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208349850 | |||||||
| chr2:208350001 | A | G | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5375-23A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 35/41 | chr2 | 208350001 | |||||||
| chr2:208350152 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.5434+69G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/41 | chr2 | 208350152 | |||||||
| chr2:208350272 | T | C | 23 | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.5434+189T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/41 | chr2 | 208350272 | |||||||
| chr2:208350459 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5435-312A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/41 | chr2 | 208350459 | |||||||
| chr2:208350576 | A | G | 1 | a0001c0001t0001g0226 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.5435-195A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/41 | chr2 | 208350576 | |||||||
| chr2:208350724 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.5435-47A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/41 | chr2 | 208350724 | |||||||
| chr2:208350767 | A | G | 1 | a0001c0003t0001g0270 | 1 | HG02647.hp1 | splice_region_variant&intron_variant | LOW | c.5435-4A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 36/41 | chr2 | 208350767 | |||||||
| chr2:208351084 | G | A | 1 | a0001c0003t0006g0024 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5611+137G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 37/41 | chr2 | 208351084 | |||||||
| chr2:208351146 | A | G | 1 | a0001c0001t0001g0185 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.5611+199A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 37/41 | chr2 | 208351146 | |||||||
| chr2:208351227 | G | A | 1 | a0003c0004t0003g0267 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5612-125G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 37/41 | chr2 | 208351227 | |||||||
| chr2:208351507 | A | T | 6 | a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 others(3): Show |
6 | HG02809.hp2 HG02896.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.5715+52A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208351507 | |||||||
| chr2:208351626 | C | A | 14 | a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 others(11): Show |
14 | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.5715+171C>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208351626 | |||||||
| chr2:208351641 | G | A | 9 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 others(6): Show |
9 | HG02055.hp1 HG02451.hp1 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.5715+186G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208351641 | |||||||
| chr2:208351817 | A | C | 1 | a0002c0002t0002g0215 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.5715+362A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208351817 | |||||||
| chr2:208351985 | G | A | 1 | a0011c0013t0015g0015 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5715+530G>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208351985 | |||||||
| chr2:208352105 | A | C | 191 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.5716-549A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208352105 | |||||||
| chr2:208352131 | A | C | 1 | a0002c0002t0002g0216 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5716-523A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208352131 | |||||||
| chr2:208352275 | A | G | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.5716-379A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208352275 | |||||||
| chr2:208352333 | G | C | 1 | a0003c0004t0005g0260 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5716-321G>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | chr2 | 208352333 | |||||||
| chr2:208352350 | GT | G | 5 | a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0272 others(2): Show |
5 | HG02572.hp2 HG02647.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.5716-294delT | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr2 | 208352350 | ||||||
| chr2:208352879 | TA | T | 3 | a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0212 |
3 | HG01975.hp1 HG02083.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.5844+98delA | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | chr2 | 208352879 | |||||||
| chr2:208353189 | TGATAA | T | 3 | a0003c0004t0005g0260 a0003c0004t0005g0261 a0009c0015t0005g0265 |
3 | HG02145.hp2 HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5844+414_5844+418d others(7): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr2 | 208353189 | ||||||
| chr2:208353285 | A | G | 52 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0123 others(49): Show |
53 | HG00597.hp1 HG00735.hp2 HG01069.hp2 others(50): Show |
intron_variant | MODIFIER | c.5844+503A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | chr2 | 208353285 | |||||||
| chr2:208353465 | A | G | 37 | a0001c0003t0007g0118 a0001c0003t0007g0119 a0001c0003t0007g0151 others(34): Show |
44 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.5845-433A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | chr2 | 208353465 | |||||||
| chr2:208353537 | A | ATC | 176 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(173): Show |
182 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
intron_variant | MODIFIER | c.5845-353_5845-352d others(4): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr2 | 208353537 | ||||||
| chr2:208353546 | T | TC | 66 | a0001c0003t0001g0013 a0001c0003t0001g0028 a0001c0003t0001g0029 others(63): Show |
73 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.5845-352_5845-351i others(3): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | chr2 | 208353546 | |||||||
| chr2:208353603 | A | C | 1 | a0003c0004t0003g0036 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5845-295A>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | chr2 | 208353603 | |||||||
| chr2:208353728 | T | C | 2 | a0001c0001t0014g0087 a0001c0001t0014g0165 |
2 | HG03654.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.5845-170T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 39/41 | chr2 | 208353728 | |||||||
| chr2:208354325 | T | A | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.6106+166T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 40/41 | chr2 | 208354325 | |||||||
| chr2:208354466 | A | G | 244 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(241): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.6107-105A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 40/41 | chr2 | 208354466 | |||||||
| chr2:208354511 | T | C | 6 | a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 others(3): Show |
6 | HG02809.hp2 HG02896.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.6107-60T>C | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 40/41 | chr2 | 208354511 | |||||||
| chr2:208354691 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.6181+46C>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 41/41 | chr2 | 208354691 | |||||||
| chr2:208354733 | T | A | 1 | a0001c0001t0001g0179 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.6181+88T>A | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 41/41 | chr2 | 208354733 | |||||||
| chr2:208354889 | A | G | 1 | a0003c0004t0009g0266 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.6181+244A>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 41/41 | chr2 | 208354889 | |||||||
| chr2:208354971 | A | T | 23 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(20): Show |
28 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.6182-219A>T | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 41/41 | chr2 | 208354971 | |||||||
| chr2:208355074 | T | G | 7 | a0001c0003t0007g0118 a0001c0003t0007g0151 a0001c0003t0007g0152 others(4): Show |
7 | HG02257.hp2 HG02647.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.6182-116T>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 41/41 | chr2 | 208355074 | |||||||
| chr2:208355144 | C | G | 1 | a0009c0015t0005g0265 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.6182-46C>G | PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 41/41 | chr2 | 208355144 |