Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 8284 |
| ensemblid | ENSG00000012817.16 |
| hgncid | 11115 |
| symbol | KDM5D |
| name | lysine demethylase 5D |
| refseq_nuc | NM_004653.5 |
| refseq_prot | NP_004644.2 |
| ensembl_nuc | ENST00000317961.9 |
| ensembl_prot | ENSP00000322408.4 |
| mane_status | MANE Select |
| chr | chrY |
| start | 19703865 |
| end | 19744726 |
| strand | - |
| ver | v1.2 |
| region | chrY:19703865-19744726 |
| region5000 | chrY:19698865-19749726 |
| regionname0 | KDM5D_chrY_19703865_19744726 |
| regionname5000 | KDM5D_chrY_19698865_19749726 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1539 | 120 | 17 | 20 | 60 | 5 | 16 | 46 | KDM5D_chrY_19698865_19749726 | KDM5D | MEPGC others(1534): Show |
chrY | 19698865 | 19749726 |
| a0002 | 0/0 | 1539 | 6 | 0 | 0 | 6 | 0 | 0 | 6 | KDM5D_chrY_19698865_19749726 | KDM5D | MEPGC others(1534): Show |
chrY | 19698865 | 19749726 |
| a0003 | 0/0 | 1539 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | MEPGC others(1534): Show |
chrY | 19698865 | 19749726 |
| a0004 | 0/0 | 1539 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | MEPGC others(1534): Show |
chrY | 19698865 | 19749726 |
| a0005 | 0/0 | 1539 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | MEPGC others(1534): Show |
chrY | 19698865 | 19749726 |
| a0006 | 0/0 | 375 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | MEPGC others(370): Show |
chrY | 19698865 | 19749726 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 4617 | 119 | 17 | 20 | 59 | 5 | 16 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 | ||
| a0001c0007 | 0/0 | 4617 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 | ||
| a0002c0002 | 0/0 | 4617 | 6 | 0 | 0 | 6 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 | ||
| a0003c0003 | 0/0 | 4617 | 2 | 0 | 0 | 2 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 | ||
| a0004c0004 | 0/0 | 4617 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 | ||
| a0005c0006 | 0/0 | 4617 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 | ||
| a0006c0005 | 0/0 | 4617 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ATGGA others(4612): Show |
chrY | 19698865 | 19749726 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 6825 | 89 | 15 | 10 | 54 | 3 | 6 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0001c0001t0002 | 1/0 | 6825 | 22 | 0 | 9 | 1 | 2 | 9 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0001c0001t0003 | 0/0 | 6825 | 4 | 0 | 0 | 4 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0001c0001t0005 | 0/0 | 6826 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6821): Show |
chrY | 19698865 | 19749726 |
| a0001c0001t0006 | 0/0 | 6825 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0001c0001t0007 | 0/0 | 6825 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0001c0001t0008 | 0/0 | 6825 | 1 | 0 | 0 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0001c0007t0001 | 0/0 | 6825 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0002c0002t0001 | 0/0 | 6825 | 6 | 0 | 0 | 6 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0003c0003t0001 | 0/0 | 6825 | 2 | 0 | 0 | 2 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0004c0004t0001 | 0/0 | 6825 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0005c0006t0001 | 0/0 | 6825 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6820): Show |
chrY | 19698865 | 19749726 |
| a0006c0005t0004 | 0/0 | 6824 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | ACTGC others(6819): Show |
chrY | 19698865 | 19749726 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 33 | 1 | 1 | 27 | 1 | 3 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0003 | 0/0 | 11 | 0 | 0 | 11 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0004 | 0/0 | 8 | 8 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0005 | 0/1 | 4 | 0 | 3 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0012 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0002 | 1/0 | 12 | 0 | 4 | 0 | 2 | 5 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0013 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0003g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0003g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0005g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0006g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0007g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0001t0008g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0001c0007t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0002c0002t0001g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0002c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0002c0002t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0002c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0003c0003t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0003c0003t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0004c0004t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0005c0006t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| a0006c0005t0004g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0049 | EUR | FIN | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0047 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0045 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01167 | hp1 | a0001 | c0001 | t0006 | g0039 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01243 | hp1 | a0001 | c0001 | t0002 | g0044 | AMR | PUR | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | CLM | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | IBS | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01928 | hp1 | a0001 | c0001 | t0002 | g0052 | AMR | PEL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01943 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0023 | AMR | PEL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | ACB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02074 | hp1 | a0003 | c0003 | t0001 | g0038 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02132 | hp1 | a0001 | c0001 | t0002 | g0048 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ACB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ACB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02602 | hp1 | a0001 | c0001 | t0002 | g0013 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02647 | hp1 | a0001 | c0001 | t0007 | g0016 | AFR | GWD | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02698 | hp1 | a0001 | c0001 | t0008 | g0029 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02717 | hp1 | a0001 | c0001 | t0005 | g0036 | AFR | GWD | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02738 | hp1 | a0001 | c0001 | t0002 | g0013 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | MSL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | ESN | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | MSL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03490 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0046 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | STU | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0051 | SAS | BEB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG04115 | hp1 | a0001 | c0001 | t0002 | g0057 | SAS | STU | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | STU | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | STU | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | STU | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | YRI | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | CHB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | CHB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18940 | hp1 | a0002 | c0002 | t0001 | g0055 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18961 | hp1 | a0002 | c0002 | t0001 | g0020 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18970 | hp1 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18971 | hp1 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18974 | hp1 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18989 | hp1 | a0001 | c0001 | t0003 | g0042 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18995 | hp1 | a0004 | c0004 | t0001 | g0017 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19006 | hp1 | a0001 | c0001 | t0003 | g0060 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19009 | hp1 | a0001 | c0007 | t0001 | g0040 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19043 | hp1 | a0005 | c0006 | t0001 | g0031 | AFR | LWK | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19055 | hp1 | a0003 | c0003 | t0001 | g0025 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19056 | hp1 | a0002 | c0002 | t0001 | g0021 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19072 | hp1 | a0006 | c0005 | t0004 | g0059 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | TSI | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0053 | EUR | TSI | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | ACB | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| NA18955 | hp1 | a0002 | c0002 | t0001 | g0019 | EAS | JPT | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0005 | REF | REF | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0002 | REF | REF | KDM5D_chrY_19698865_19749726 | KDM5D | chrY | 19698865 | 19749726 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:19706182 | C | T | 1 | a0005 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.4433G>A | p.Arg1478Gln | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 4508/6825 | 4433/4620 | 1478/1539 | chrY | 19706182 | |||
| chrY:19708037 | C | T | 1 | a0003 | 2 | HG02074.hp1 NA19055.hp1 |
missense_variant | MODERATE | c.3296G>A | p.Ser1099Asn | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 23/27 | 3371/6825 | 3296/4620 | 1099/1539 | chrY | 19708037 | |||
| chrY:19732119 | TG | T | 1 | a0006 | 1 | NA19072.hp1 | frameshift_variant | HIGH | c.1138delC | p.Gln380fs | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/27 | 1213/6825 | 1138/4620 | 380/1539 | chrY | 19732119 | |||
| chrY:19732135 | A | AG | 1 | a0006 | 1 | NA19072.hp1 | frameshift_variant | HIGH | c.1122_1123insC | p.Phe375fs | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/27 | 1197/6825 | 1122/4620 | 374/1539 | chrY | 19732135 | |||
| chrY:19735435 | T | C | 1 | a0002 | 6 | NA18940.hp1 NA18952.hp1 NA18955.hp1 others(3): Show |
missense_variant | MODERATE | c.850A>G | p.Thr284Ala | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 8/27 | 925/6825 | 850/4620 | 284/1539 | chrY | 19735435 | |||
| chrY:19735693 | A | G | 1 | a0004 | 1 | NA18995.hp1 | missense_variant | MODERATE | c.715T>C | p.Tyr239His | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 7/27 | 790/6825 | 715/4620 | 239/1539 | chrY | 19735693 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:19706471 | T | A | 1 | a0001c0007 | 1 | NA19009.hp1 | synonymous_variant | LOW | c.4239A>T | p.Pro1413Pro | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 26/27 | 4314/6825 | 4239/4620 | 1413/1539 | chrY | 19706471 | |||
| chrY:19707633 | C | T | 1 | a0005c0006 | 1 | NA19043.hp1 | synonymous_variant | LOW | c.3513G>A | p.Pro1171Pro | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 24/27 | 3588/6825 | 3513/4620 | 1171/1539 | chrY | 19707633 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:19703935 | G | A | 1 | a0001c0001t0006 | 1 | HG01167.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2060C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 2060 | chrY | 19703935 | ||||||
| chrY:19704605 | C | T | 1 | a0001c0001t0003 | 4 | NA18971.hp1 NA18974.hp1 NA18989.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1390G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 1390 | chrY | 19704605 | ||||||
| chrY:19704778 | G | C | 1 | a0001c0001t0008 | 1 | HG02698.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1217C>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 1217 | chrY | 19704778 | ||||||
| chrY:19704954 | T | A | 1 | a0001c0001t0007 | 1 | HG02647.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1041A>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 1041 | chrY | 19704954 | ||||||
| chrY:19704956 | C | CT | 1 | a0001c0001t0005 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1038dupA | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 1038 | chrY | 19704956 | ||||||
| chrY:19705642 | CA | C | 1 | a0006c0005t0004 | 1 | NA19072.hp1 | 3_prime_UTR_variant | MODIFIER | c.*352delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 352 | chrY | 19705642 | ||||||
| chrY:19705901 | A | G | 11 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show |
107 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(104): Show |
3_prime_UTR_variant | MODIFIER | c.*94T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 27/27 | 94 | chrY | 19705901 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:19708460 | C | T | 1 | a0001c0001t0002g0045 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3082-37G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 21/26 | chrY | 19708460 | |||||||
| chrY:19710104 | C | CCAAT | 1 | a0001c0001t0002g0044 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2583+268_2583+271d others(6): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 19/26 | chrY | 19710104 | |||||||
| chrY:19710793 | C | A | 1 | a0001c0001t0002g0048 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2487-321G>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19710793 | |||||||
| chrY:19710852 | T | C | 9 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 others(6): Show |
21 | NA18940.hp1 NA18944.hp1 NA18948.hp1 others(18): Show |
intron_variant | MODIFIER | c.2487-380A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19710852 | |||||||
| chrY:19711680 | CA | C | 1 | a0001c0001t0001g0015 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.2487-1209delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19711680 | |||||||
| chrY:19711737 | G | A | 3 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0028 |
5 | HG01069.hp1 HG01255.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.2487-1265C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19711737 | |||||||
| chrY:19712910 | G | C | 1 | a0001c0001t0007g0016 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2487-2438C>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19712910 | |||||||
| chrY:19713652 | T | C | 5 | a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0003g0010 others(2): Show |
7 | NA18612.hp1 NA18971.hp1 NA18974.hp1 others(4): Show |
intron_variant | MODIFIER | c.2486+1700A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19713652 | |||||||
| chrY:19713739 | G | T | 1 | a0001c0001t0001g0035 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2486+1613C>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19713739 | |||||||
| chrY:19713862 | T | TA | 1 | a0001c0001t0002g0046 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2486+1489dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19713862 | |||||||
| chrY:19714902 | G | GT | 1 | a0001c0001t0001g0037 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2486+449_2486+450i others(3): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19714902 | |||||||
| chrY:19715075 | T | C | 2 | a0001c0001t0001g0006 a0004c0004t0001g0017 |
3 | NA18995.hp1 NA19004.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2486+277A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 18/26 | chrY | 19715075 | |||||||
| chrY:19716186 | G | GT | 2 | a0001c0001t0001g0037 a0005c0006t0001g0031 |
2 | HG03225.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2031+92_2031+93ins others(1): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 15/26 | chrY | 19716186 | |||||||
| chrY:19716866 | G | A | 1 | a0001c0001t0001g0026 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1717-151C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19716866 | |||||||
| chrY:19718150 | G | GT | 1 | a0001c0001t0001g0037 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1717-1436dupA | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19718150 | |||||||
| chrY:19718256 | C | G | 1 | a0002c0002t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1717-1541G>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19718256 | |||||||
| chrY:19718656 | G | C | 1 | a0001c0001t0002g0046 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1717-1941C>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19718656 | |||||||
| chrY:19718736 | C | G | 1 | a0002c0002t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1717-2021G>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19718736 | |||||||
| chrY:19718914 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1716+1958A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19718914 | |||||||
| chrY:19718966 | C | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0035 others(2): Show |
12 | HG02055.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.1716+1906G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19718966 | |||||||
| chrY:19719169 | C | CA | 1 | a0001c0001t0001g0008 | 2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1716+1702dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19719169 | |||||||
| chrY:19719169 | CA | C | 1 | a0005c0006t0001g0031 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1716+1702delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19719169 | |||||||
| chrY:19719469 | G | GA | 1 | a0001c0001t0002g0023 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1716+1402dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19719469 | |||||||
| chrY:19720577 | T | TA | 1 | a0001c0001t0001g0024 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1716+294dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 13/26 | chrY | 19720577 | |||||||
| chrY:19721573 | T | G | 1 | a0001c0001t0001g0041 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1372-262A>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19721573 | |||||||
| chrY:19721696 | A | G | 2 | a0001c0001t0003g0042 a0001c0001t0003g0060 |
2 | NA18989.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.1372-385T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19721696 | |||||||
| chrY:19722252 | A | G | 1 | a0001c0001t0001g0034 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1372-941T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722252 | |||||||
| chrY:19722440 | A | G | 1 | a0001c0001t0007g0016 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1372-1129T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722440 | |||||||
| chrY:19722467 | T | A | 3 | a0001c0001t0003g0010 a0001c0001t0003g0042 a0001c0001t0003g0060 |
4 | NA18971.hp1 NA18974.hp1 NA18989.hp1 others(1): Show |
intron_variant | MODIFIER | c.1372-1156A>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722467 | |||||||
| chrY:19722598 | C | A | 1 | a0001c0001t0002g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1372-1287G>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722598 | |||||||
| chrY:19722599 | G | A | 1 | a0001c0001t0002g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1372-1288C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722599 | |||||||
| chrY:19722600 | A | T | 1 | a0001c0001t0002g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1372-1289T>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722600 | |||||||
| chrY:19722601 | C | G | 1 | a0001c0001t0002g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1372-1290G>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722601 | |||||||
| chrY:19722602 | C | T | 1 | a0001c0001t0002g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1372-1291G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722602 | |||||||
| chrY:19722603 | T | A | 1 | a0001c0001t0002g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1372-1292A>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722603 | |||||||
| chrY:19722913 | G | A | 1 | a0001c0001t0001g0043 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1372-1602C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19722913 | |||||||
| chrY:19723140 | C | G | 1 | a0001c0001t0001g0033 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1372-1829G>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19723140 | |||||||
| chrY:19723411 | G | A | 1 | a0006c0005t0004g0059 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1372-2100C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19723411 | |||||||
| chrY:19723965 | A | C | 1 | a0001c0001t0001g0051 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1372-2654T>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19723965 | |||||||
| chrY:19724669 | C | G | 1 | a0001c0001t0001g0032 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1372-3358G>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19724669 | |||||||
| chrY:19725062 | A | G | 1 | a0005c0006t0001g0031 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1372-3751T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19725062 | |||||||
| chrY:19725110 | A | G | 1 | a0001c0001t0001g0030 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1372-3799T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19725110 | |||||||
| chrY:19725375 | C | A | 1 | a0001c0001t0002g0048 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1372-4064G>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19725375 | |||||||
| chrY:19725826 | A | T | 1 | a0001c0001t0007g0016 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1372-4515T>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19725826 | |||||||
| chrY:19727140 | C | A | 1 | a0001c0001t0001g0027 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1371+4632G>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19727140 | |||||||
| chrY:19727881 | A | G | 49 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(46): Show |
107 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.1371+3891T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19727881 | |||||||
| chrY:19727932 | G | T | 1 | a0001c0001t0008g0029 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1371+3840C>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19727932 | |||||||
| chrY:19727936 | TA | T | 1 | a0001c0001t0001g0028 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1371+3835delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19727936 | |||||||
| chrY:19728447 | C | T | 2 | a0001c0001t0002g0023 a0001c0001t0002g0052 |
2 | HG01928.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.1371+3325G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19728447 | |||||||
| chrY:19728653 | T | C | 1 | a0001c0001t0001g0022 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1371+3119A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19728653 | |||||||
| chrY:19728934 | G | A | 1 | a0001c0001t0001g0026 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1371+2838C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19728934 | |||||||
| chrY:19729814 | A | G | 1 | a0001c0001t0001g0027 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1371+1958T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19729814 | |||||||
| chrY:19730149 | A | G | 1 | a0001c0001t0001g0026 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1371+1623T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730149 | |||||||
| chrY:19730242 | CA | C | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1529delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730242 | |||||||
| chrY:19730251 | C | G | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1521G>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730251 | |||||||
| chrY:19730252 | ACTTTTT | A | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1514_1371+151 others(10): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730252 | |||||||
| chrY:19730260 | T | C | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1512A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730260 | |||||||
| chrY:19730261 | T | G | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1511A>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730261 | |||||||
| chrY:19730262 | A | C | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1510T>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730262 | |||||||
| chrY:19730263 | T | G | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1509A>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730263 | |||||||
| chrY:19730265 | A | G | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1507T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730265 | |||||||
| chrY:19730267 | G | T | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1505C>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730267 | |||||||
| chrY:19730686 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1371+1086G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730686 | |||||||
| chrY:19730689 | CAT | C | 1 | a0001c0001t0001g0049 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1371+1081_1371+108 others(6): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730689 | |||||||
| chrY:19730751 | T | TA | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+1020dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19730751 | |||||||
| chrY:19731067 | A | AC | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+704dupG | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731067 | |||||||
| chrY:19731298 | T | G | 1 | a0001c0001t0001g0050 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1371+474A>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731298 | |||||||
| chrY:19731373 | C | T | 1 | a0003c0003t0001g0025 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1371+399G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731373 | |||||||
| chrY:19731417 | C | T | 1 | a0001c0001t0001g0011 | 2 | HG01074.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.1371+355G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731417 | |||||||
| chrY:19731418 | G | GC | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+353dupG | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731418 | |||||||
| chrY:19731588 | G | GA | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+183dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731588 | |||||||
| chrY:19731662 | T | TTAG | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+109_1371+110i others(5): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731662 | |||||||
| chrY:19731665 | C | CG | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+106_1371+107i others(3): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731665 | |||||||
| chrY:19731667 | GA | G | 1 | a0006c0005t0004g0059 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1371+104delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731667 | |||||||
| chrY:19731667 | GAAA | G | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+102_1371+104d others(5): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731667 | |||||||
| chrY:19731672 | A | G | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+100T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731672 | |||||||
| chrY:19731674 | G | T | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1371+98C>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 11/26 | chrY | 19731674 | |||||||
| chrY:19731995 | A | C | 1 | a0001c0001t0001g0024 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1212+51T>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/26 | chrY | 19731995 | |||||||
| chrY:19732008 | CA | C | 1 | a0001c0001t0001g0018 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1212+37delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 10/26 | chrY | 19732008 | |||||||
| chrY:19732172 | T | C | 1 | a0001c0001t0001g0051 | 1 | HG03942.hp1 | splice_region_variant&intron_variant | LOW | c.1093-7A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 9/26 | chrY | 19732172 | |||||||
| chrY:19732285 | CAT | C | 1 | a0001c0001t0001g0051 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1093-122_1093-121d others(4): Show |
KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 9/26 | chrY | 19732285 | |||||||
| chrY:19732747 | CA | C | 1 | a0002c0002t0001g0019 | 1 | NA18955.hp1 | splice_region_variant&intron_variant | LOW | c.934-6delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 8/26 | chrY | 19732747 | |||||||
| chrY:19732970 | G | A | 1 | a0001c0001t0001g0058 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.934-228C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 8/26 | chrY | 19732970 | |||||||
| chrY:19734375 | G | T | 1 | a0001c0001t0001g0008 | 2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.933+977C>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 8/26 | chrY | 19734375 | |||||||
| chrY:19734595 | C | T | 1 | a0001c0001t0002g0023 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.933+757G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 8/26 | chrY | 19734595 | |||||||
| chrY:19737967 | T | C | 1 | a0001c0001t0007g0016 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.657+1561A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 6/26 | chrY | 19737967 | |||||||
| chrY:19738029 | G | C | 1 | a0001c0001t0002g0052 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.657+1499C>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 6/26 | chrY | 19738029 | |||||||
| chrY:19738385 | T | C | 1 | a0002c0002t0001g0021 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.657+1143A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 6/26 | chrY | 19738385 | |||||||
| chrY:19738616 | A | C | 1 | a0001c0001t0001g0053 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.657+912T>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 6/26 | chrY | 19738616 | |||||||
| chrY:19738925 | T | C | 1 | a0001c0001t0001g0053 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.657+603A>G | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 6/26 | chrY | 19738925 | |||||||
| chrY:19738963 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.657+565T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 6/26 | chrY | 19738963 | |||||||
| chrY:19741497 | A | G | 9 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 others(6): Show |
21 | NA18940.hp1 NA18944.hp1 NA18948.hp1 others(18): Show |
intron_variant | MODIFIER | c.352-9T>C | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 4/26 | chrY | 19741497 | |||||||
| chrY:19741967 | G | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0054 |
3 | HG01074.hp1 HG01106.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.229-110C>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 3/26 | chrY | 19741967 | |||||||
| chrY:19742577 | C | A | 1 | a0001c0001t0007g0016 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.228+585G>T | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 3/26 | chrY | 19742577 | |||||||
| chrY:19743397 | C | CA | 4 | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0057 others(1): Show |
4 | HG02486.hp1 HG04115.hp1 NA18940.hp1 others(1): Show |
intron_variant | MODIFIER | c.151-159dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 2/26 | chrY | 19743397 | |||||||
| chrY:19743397 | CA | C | 2 | a0001c0001t0001g0015 a0001c0001t0007g0016 |
2 | HG01256.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.151-159delT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 2/26 | chrY | 19743397 | |||||||
| chrY:19743468 | G | GA | 5 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0002g0013 others(2): Show |
7 | HG02055.hp1 HG02602.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.151-230dupT | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 2/26 | chrY | 19743468 | |||||||
| chrY:19744240 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.150+145G>A | KDM5D | ENSG00000012817.16 | transcript | ENST00000317961.9 | protein_coding | 2/26 | chrY | 19744240 |