Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 80258 |
| ensemblid | ENSG00000183690.13 |
| hgncid | 26233 |
| symbol | EFHC2 |
| name | EF-hand domain containing 2 |
| refseq_nuc | NM_025184.4 |
| refseq_prot | NP_079460.2 |
| ensembl_nuc | ENST00000420999.2 |
| ensembl_prot | ENSP00000404232.2 |
| mane_status | MANE Select |
| chr | chrX |
| start | 44147872 |
| end | 44343672 |
| strand | - |
| ver | v1.2 |
| region | chrX:44147872-44343672 |
| region5000 | chrX:44142872-44348672 |
| regionname0 | EFHC2_chrX_44147872_44343672 |
| regionname5000 | EFHC2_chrX_44142872_44348672 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 749 | 170 | 49 | 25 | 71 | 5 | 18 | 51 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0002 | 0/0 | 749 | 21 | 3 | 9 | 9 | 0 | 0 | 6 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0003 | 0/0 | 749 | 12 | 1 | 9 | 0 | 0 | 2 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0004 | 0/0 | 749 | 5 | 3 | 2 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0005 | 0/0 | 749 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0006 | 0/0 | 749 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0007 | 0/0 | 749 | 2 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0008 | 0/0 | 749 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0009 | 0/0 | 749 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| a0010 | 0/0 | 749 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | MALPL others(744): Show |
chrX | 44142872 | 44348672 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2247 | 165 | 45 | 24 | 71 | 5 | 18 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0001c0006 | 0/0 | 2247 | 4 | 4 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0001c0013 | 0/0 | 2247 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0002c0002 | 0/0 | 2247 | 19 | 3 | 9 | 7 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0002c0008 | 0/0 | 2247 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0003c0003 | 0/0 | 2247 | 12 | 1 | 9 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0004c0004 | 0/0 | 2247 | 5 | 3 | 2 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0005c0005 | 0/0 | 2247 | 4 | 0 | 0 | 4 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0006c0007 | 0/0 | 2247 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0007c0009 | 0/0 | 2247 | 2 | 1 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0008c0010 | 0/0 | 2247 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0009c0011 | 0/0 | 2247 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 | ||
| a0010c0012 | 0/0 | 2247 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | ATGGC others(2242): Show |
chrX | 44142872 | 44348672 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 3257 | 67 | 20 | 11 | 25 | 4 | 6 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0002 | 0/0 | 3261 | 10 | 4 | 2 | 0 | 0 | 4 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3256): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0003 | 0/0 | 3267 | 25 | 1 | 3 | 18 | 1 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3262): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0004 | 0/0 | 3259 | 17 | 1 | 4 | 7 | 0 | 5 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3254): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0005 | 0/0 | 3265 | 15 | 0 | 0 | 15 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3260): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0006 | 0/0 | 3269 | 6 | 4 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3264): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0007 | 0/0 | 3263 | 2 | 1 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3258): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0008 | 0/0 | 3257 | 5 | 5 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0009 | 0/0 | 3261 | 5 | 3 | 2 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3256): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0010 | 0/0 | 3271 | 3 | 2 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3266): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0011 | 0/0 | 3265 | 3 | 1 | 0 | 1 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3260): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0012 | 0/0 | 3263 | 2 | 0 | 1 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3258): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0013 | 0/0 | 3257 | 2 | 2 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0015 | 0/0 | 3257 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0016 | 0/0 | 3265 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3260): Show |
chrX | 44142872 | 44348672 |
| a0001c0001t0017 | 0/1 | 3258 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3253): Show |
chrX | 44142872 | 44348672 |
| a0001c0006t0001 | 0/0 | 3257 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0001c0006t0006 | 0/0 | 3269 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3264): Show |
chrX | 44142872 | 44348672 |
| a0001c0013t0003 | 0/0 | 3267 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3262): Show |
chrX | 44142872 | 44348672 |
| a0002c0002t0002 | 0/0 | 3261 | 11 | 3 | 7 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3256): Show |
chrX | 44142872 | 44348672 |
| a0002c0002t0004 | 0/0 | 3259 | 3 | 0 | 0 | 3 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3254): Show |
chrX | 44142872 | 44348672 |
| a0002c0002t0007 | 0/0 | 3263 | 5 | 0 | 2 | 3 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3258): Show |
chrX | 44142872 | 44348672 |
| a0002c0008t0004 | 0/0 | 3259 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3254): Show |
chrX | 44142872 | 44348672 |
| a0003c0003t0002 | 0/0 | 3261 | 12 | 1 | 9 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3256): Show |
chrX | 44142872 | 44348672 |
| a0004c0004t0001 | 0/0 | 3257 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0004c0004t0002 | 0/0 | 3261 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3256): Show |
chrX | 44142872 | 44348672 |
| a0004c0004t0004 | 0/0 | 3259 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3254): Show |
chrX | 44142872 | 44348672 |
| a0005c0005t0001 | 0/0 | 3257 | 4 | 0 | 0 | 4 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0006c0007t0002 | 0/0 | 3261 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3256): Show |
chrX | 44142872 | 44348672 |
| a0007c0009t0003 | 0/0 | 3267 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3262): Show |
chrX | 44142872 | 44348672 |
| a0007c0009t0014 | 0/0 | 3265 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3260): Show |
chrX | 44142872 | 44348672 |
| a0008c0010t0003 | 0/0 | 3267 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3262): Show |
chrX | 44142872 | 44348672 |
| a0008c0010t0006 | 0/0 | 3269 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3264): Show |
chrX | 44142872 | 44348672 |
| a0009c0011t0001 | 0/0 | 3257 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| a0010c0012t0001 | 0/0 | 3257 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | GGGGG others(3252): Show |
chrX | 44142872 | 44348672 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0149 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0007g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0007g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0010g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0010g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0010g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0011g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0011g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0011g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0012g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0012g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0013g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0013g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0015g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0016g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0017g0221 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0006g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0013t0003g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0004g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0004g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0004g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0008t0004g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0008t0004g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0004g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0006c0007t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0006c0007t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0006c0007t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0007c0009t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0007c0009t0014g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0008c0010t0003g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0008c0010t0006g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0009c0011t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0010c0012t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0150 | EUR | GBR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0178 | EUR | FIN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00438 | hp1 | a0002 | c0002 | t0007 | g0218 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00438 | hp2 | a0001 | c0001 | t0005 | g0107 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00558 | hp2 | a0001 | c0001 | t0015 | g0064 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00621 | hp1 | a0007 | c0009 | t0003 | g0114 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0094 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00673 | hp1 | a0001 | c0001 | t0004 | g0160 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00738 | hp1 | a0004 | c0004 | t0001 | g0019 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0165 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00741 | hp2 | a0001 | c0001 | t0009 | g0180 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01070 | hp1 | a0003 | c0003 | t0002 | g0188 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01070 | hp2 | a0001 | c0001 | t0009 | g0157 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01071 | hp2 | a0003 | c0003 | t0002 | g0189 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01074 | hp1 | a0002 | c0002 | t0002 | g0011 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01081 | hp1 | a0003 | c0003 | t0002 | g0058 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0095 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01109 | hp1 | a0002 | c0002 | t0002 | g0093 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0169 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01168 | hp2 | a0001 | c0013 | t0003 | g0044 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01169 | hp1 | a0001 | c0001 | t0003 | g0030 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01243 | hp1 | a0001 | c0001 | t0012 | g0017 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01256 | hp1 | a0002 | c0002 | t0007 | g0154 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01261 | hp1 | a0001 | c0001 | t0004 | g0063 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01358 | hp1 | a0002 | c0002 | t0002 | g0164 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01361 | hp1 | a0004 | c0004 | t0004 | g0130 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01361 | hp2 | a0001 | c0001 | t0004 | g0090 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01433 | hp1 | a0001 | c0001 | t0004 | g0148 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01496 | hp1 | a0003 | c0003 | t0002 | g0057 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01496 | hp2 | a0001 | c0001 | t0004 | g0140 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01515 | hp1 | a0001 | c0001 | t0003 | g0185 | EUR | IBS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01928 | hp1 | a0003 | c0003 | t0002 | g0115 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01934 | hp1 | a0002 | c0002 | t0002 | g0074 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01943 | hp1 | a0003 | c0003 | t0002 | g0055 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01952 | hp1 | a0002 | c0002 | t0002 | g0059 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01975 | hp1 | a0003 | c0003 | t0002 | g0050 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01975 | hp2 | a0002 | c0002 | t0007 | g0167 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01978 | hp1 | a0002 | c0002 | t0002 | g0182 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01978 | hp2 | a0001 | c0001 | t0007 | g0119 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01981 | hp1 | a0001 | c0001 | t0003 | g0043 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01981 | hp2 | a0003 | c0003 | t0002 | g0106 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02004 | hp1 | a0002 | c0002 | t0002 | g0138 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0152 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02015 | hp1 | a0001 | c0001 | t0003 | g0085 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02056 | hp1 | a0001 | c0001 | t0004 | g0088 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02071 | hp1 | a0001 | c0001 | t0004 | g0161 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02074 | hp1 | a0002 | c0002 | t0004 | g0125 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02083 | hp1 | a0001 | c0001 | t0004 | g0137 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0215 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02148 | hp1 | a0003 | c0003 | t0002 | g0054 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02155 | hp2 | a0001 | c0001 | t0010 | g0133 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02165 | hp2 | a0002 | c0002 | t0007 | g0217 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02257 | hp1 | a0007 | c0009 | t0014 | g0177 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02257 | hp2 | a0001 | c0001 | t0009 | g0006 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02280 | hp1 | a0001 | c0001 | t0010 | g0070 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02280 | hp2 | a0001 | c0006 | t0001 | g0023 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02451 | hp1 | a0001 | c0001 | t0009 | g0198 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02451 | hp2 | a0001 | c0006 | t0001 | g0016 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02523 | hp2 | a0001 | c0001 | t0003 | g0175 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02572 | hp1 | a0006 | c0007 | t0002 | g0025 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02602 | hp1 | a0001 | c0001 | t0004 | g0209 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02615 | hp1 | a0001 | c0001 | t0006 | g0028 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0100 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02630 | hp1 | a0001 | c0001 | t0004 | g0102 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0195 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02683 | hp1 | a0001 | c0001 | t0003 | g0145 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02683 | hp2 | a0001 | c0001 | t0004 | g0176 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0098 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02717 | hp1 | a0001 | c0001 | t0008 | g0032 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0101 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02723 | hp2 | a0001 | c0001 | t0006 | g0075 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02735 | hp1 | a0003 | c0003 | t0002 | g0018 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0186 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02809 | hp1 | a0004 | c0004 | t0002 | g0026 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02809 | hp2 | a0001 | c0001 | t0008 | g0038 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02818 | hp2 | a0006 | c0007 | t0002 | g0024 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0078 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0021 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02895 | hp1 | a0002 | c0002 | t0002 | g0077 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02896 | hp1 | a0001 | c0001 | t0009 | g0004 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02896 | hp2 | a0001 | c0001 | t0013 | g0033 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02897 | hp1 | a0002 | c0002 | t0002 | g0076 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02897 | hp2 | a0001 | c0001 | t0013 | g0031 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0210 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02970 | hp1 | a0001 | c0006 | t0006 | g0103 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02970 | hp2 | a0002 | c0002 | t0002 | g0201 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0042 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03041 | hp1 | a0004 | c0004 | t0002 | g0020 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0013 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03098 | hp1 | a0001 | c0001 | t0008 | g0202 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03130 | hp1 | a0006 | c0007 | t0002 | g0203 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0096 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0200 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03195 | hp2 | a0001 | c0001 | t0008 | g0034 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03209 | hp1 | a0001 | c0001 | t0007 | g0111 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0104 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03486 | hp1 | a0001 | c0006 | t0001 | g0022 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03490 | hp1 | a0001 | c0001 | t0002 | g0061 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0079 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0029 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03688 | hp1 | a0001 | c0001 | t0003 | g0184 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03710 | hp1 | a0001 | c0001 | t0004 | g0047 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0092 | SAS | BEB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0099 | SAS | BEB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0181 | SAS | BEB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04115 | hp1 | a0001 | c0001 | t0004 | g0105 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04199 | hp1 | a0001 | c0001 | t0004 | g0060 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04204 | hp1 | a0003 | c0003 | t0002 | g0097 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0062 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | YRI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18612 | hp1 | a0005 | c0005 | t0001 | g0122 | EAS | CHB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18747 | hp1 | a0001 | c0001 | t0011 | g0051 | EAS | CHB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18939 | hp1 | a0001 | c0001 | t0003 | g0219 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18939 | hp2 | a0002 | c0002 | t0007 | g0187 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18940 | hp1 | a0001 | c0001 | t0005 | g0001 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18943 | hp1 | a0002 | c0008 | t0004 | g0124 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18945 | hp1 | a0001 | c0001 | t0005 | g0174 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18952 | hp1 | a0001 | c0001 | t0003 | g0117 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0118 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18957 | hp2 | a0002 | c0002 | t0002 | g0192 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18959 | hp1 | a0001 | c0001 | t0003 | g0048 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18960 | hp1 | a0001 | c0001 | t0003 | g0163 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18961 | hp1 | a0001 | c0001 | t0005 | g0214 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18962 | hp1 | a0001 | c0001 | t0006 | g0040 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18966 | hp1 | a0001 | c0001 | t0003 | g0136 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18967 | hp1 | a0001 | c0001 | t0003 | g0112 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18969 | hp1 | a0001 | c0001 | t0005 | g0179 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18969 | hp2 | a0001 | c0001 | t0003 | g0208 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18970 | hp1 | a0009 | c0011 | t0001 | g0068 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18974 | hp1 | a0002 | c0002 | t0004 | g0191 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18977 | hp1 | a0001 | c0001 | t0005 | g0171 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18981 | hp1 | a0001 | c0001 | t0003 | g0123 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18981 | hp2 | a0001 | c0001 | t0005 | g0087 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18983 | hp1 | a0008 | c0010 | t0003 | g0168 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18984 | hp1 | a0001 | c0001 | t0003 | g0134 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18985 | hp1 | a0008 | c0010 | t0006 | g0162 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18988 | hp1 | a0001 | c0001 | t0005 | g0080 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18990 | hp1 | a0005 | c0005 | t0001 | g0142 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18994 | hp1 | a0002 | c0002 | t0004 | g0207 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19004 | hp1 | a0005 | c0005 | t0001 | g0141 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19005 | hp1 | a0002 | c0008 | t0004 | g0052 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19006 | hp1 | a0001 | c0001 | t0003 | g0121 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19009 | hp1 | a0001 | c0001 | t0004 | g0132 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19010 | hp1 | a0001 | c0001 | t0005 | g0213 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19010 | hp2 | a0001 | c0001 | t0006 | g0172 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19012 | hp1 | a0001 | c0001 | t0004 | g0041 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19030 | hp1 | a0001 | c0001 | t0011 | g0008 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0197 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19055 | hp1 | a0010 | c0012 | t0001 | g0156 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19056 | hp1 | a0001 | c0001 | t0004 | g0155 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19058 | hp1 | a0001 | c0001 | t0005 | g0116 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19062 | hp1 | a0001 | c0001 | t0005 | g0081 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19063 | hp1 | a0001 | c0001 | t0005 | g0193 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19066 | hp1 | a0001 | c0001 | t0003 | g0204 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19067 | hp1 | a0001 | c0001 | t0003 | g0183 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19068 | hp1 | a0001 | c0001 | t0005 | g0147 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19072 | hp1 | a0005 | c0005 | t0001 | g0053 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19075 | hp1 | a0001 | c0001 | t0012 | g0211 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0153 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19080 | hp2 | a0001 | c0001 | t0005 | g0212 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19085 | hp1 | a0001 | c0001 | t0003 | g0139 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19088 | hp1 | a0001 | c0001 | t0005 | g0036 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19240 | hp1 | a0001 | c0001 | t0008 | g0199 | AFR | YRI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19240 | hp2 | a0004 | c0004 | t0002 | g0027 | AFR | YRI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20129 | hp1 | a0001 | c0001 | t0006 | g0002 | AFR | ASW | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20129 | hp2 | a0003 | c0003 | t0002 | g0056 | AFR | ASW | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0108 | EUR | TSI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0010 | EUR | TSI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20905 | hp1 | a0001 | c0001 | t0011 | g0046 | SAS | GIH | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0194 | AFR | USA | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG06807 | hp2 | a0001 | c0001 | t0016 | g0220 | AFR | USA | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18955 | hp1 | a0001 | c0001 | t0003 | g0173 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA21309 | hp2 | a0001 | c0001 | t0010 | g0131 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0017 | g0221 | REF | REF | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0149 | REF | REF | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44148853 | G | A | 1 | a0006 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
missense_variant | MODERATE | c.2192C>T | p.Ala731Val | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 2276/3257 | 2192/2250 | 731/749 | chrX | 44148853 | |||
| chrX:44232582 | C | G | 1 | a0005 | 4 | NA18612.hp1 NA18990.hp1 NA19004.hp1 others(1): Show |
missense_variant | MODERATE | c.1519G>C | p.Glu507Gln | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/15 | 1603/3257 | 1519/2250 | 507/749 | chrX | 44232582 | |||
| chrX:44232644 | C | T | 1 | a0008 | 2 | NA18983.hp1 NA18985.hp1 |
missense_variant | MODERATE | c.1457G>A | p.Arg486His | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/15 | 1541/3257 | 1457/2250 | 486/749 | chrX | 44232644 | |||
| chrX:44235372 | C | T | 1 | a0007 | 2 | HG00621.hp1 HG02257.hp1 |
missense_variant | MODERATE | c.1356G>A | p.Met452Ile | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1440/3257 | 1356/2250 | 452/749 | chrX | 44235372 | |||
| chrX:44235439 | G | T | 2 | a0002 a0003 |
33 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(30): Show |
missense_variant | MODERATE | c.1289C>A | p.Ser430Tyr | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1373/3257 | 1289/2250 | 430/749 | chrX | 44235439 | |||
| chrX:44250379 | A | T | 1 | a0010 | 1 | NA19055.hp1 | missense_variant | MODERATE | c.673T>A | p.Tyr225Asn | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/15 | 757/3257 | 673/2250 | 225/749 | chrX | 44250379 | |||
| chrX:44261283 | C | T | 1 | a0009 | 1 | NA18970.hp1 | missense_variant | MODERATE | c.398G>A | p.Arg133His | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/15 | 482/3257 | 398/2250 | 133/749 | chrX | 44261283 | |||
| chrX:44312629 | C | T | 1 | a0004 | 5 | HG00738.hp1 HG01361.hp1 HG02809.hp1 others(2): Show |
missense_variant | MODERATE | c.170G>A | p.Cys57Tyr | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/15 | 254/3257 | 170/2250 | 57/749 | chrX | 44312629 | |||
| chrX:44312707 | T | C | 1 | a0003 | 12 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
missense_variant | MODERATE | c.92A>G | p.Asn31Ser | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/15 | 176/3257 | 92/2250 | 31/749 | chrX | 44312707 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44178441 | G | A | 1 | a0001c0013 | 1 | HG01168.hp2 | synonymous_variant | LOW | c.1875C>T | p.His625His | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/15 | 1959/3257 | 1875/2250 | 625/749 | chrX | 44178441 | |||
| chrX:44235384 | G | A | 1 | a0001c0006 | 4 | HG02280.hp2 HG02451.hp2 HG02970.hp1 others(1): Show |
synonymous_variant | LOW | c.1344C>T | p.Asp448Asp | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1428/3257 | 1344/2250 | 448/749 | chrX | 44235384 | |||
| chrX:44312643 | C | T | 1 | a0002c0008 | 2 | NA18943.hp1 NA19005.hp1 |
synonymous_variant | LOW | c.156G>A | p.Lys52Lys | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/15 | 240/3257 | 156/2250 | 52/749 | chrX | 44312643 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44147965 | C | T | 1 | a0007c0009t0014 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*830G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 830 | chrX | 44147965 | ||||||
| chrX:44148123 | A | G | 1 | a0001c0001t0015 | 1 | HG00558.hp2 | 3_prime_UTR_variant | MODIFIER | c.*672T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 672 | chrX | 44148123 | ||||||
| chrX:44148171 | T | C | 1 | a0001c0001t0009 | 5 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*624A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 624 | chrX | 44148171 | ||||||
| chrX:44148213 | C | T | 1 | a0001c0001t0013 | 2 | HG02896.hp2 HG02897.hp2 |
3_prime_UTR_variant | MODIFIER | c.*582G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 582 | chrX | 44148213 | ||||||
| chrX:44148226 | C | CGTGTGT | 1 | a0001c0001t0012 | 2 | HG01243.hp1 NA19075.hp1 |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | ||||||
| chrX:44148226 | C | CGTGTGTG others(1): Show |
3 | a0001c0001t0011 a0001c0001t0016 a0007c0009t0014 |
5 | HG02257.hp1 HG06807.hp2 NA18747.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | ||||||
| chrX:44148226 | C | CGTGTGTG others(3): Show |
4 | a0001c0001t0003 a0001c0013t0003 a0007c0009t0003 others(1): Show |
28 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | ||||||
| chrX:44148226 | C | CGTGTGTG others(5): Show |
3 | a0001c0001t0006 a0001c0006t0006 a0008c0010t0006 |
8 | HG02615.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | ||||||
| chrX:44148226 | C | CGTGTGTG others(7): Show |
1 | a0001c0001t0010 | 3 | HG02155.hp2 HG02280.hp1 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | ||||||
| chrX:44148230 | C | CGT | 4 | a0001c0001t0004 a0002c0002t0004 a0002c0008t0004 others(1): Show |
23 | HG00673.hp1 HG01261.hp1 HG01361.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*563_*564dupAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | ||||||
| chrX:44148230 | C | CGTGT | 6 | a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 others(3): Show |
44 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*561_*564dupACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | ||||||
| chrX:44148230 | C | CGTGTGT | 2 | a0001c0001t0007 a0002c0002t0007 |
7 | HG00438.hp1 HG01256.hp1 HG01975.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*559_*564dupACACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | ||||||
| chrX:44148230 | C | CGTGTGTG others(1): Show |
1 | a0001c0001t0005 | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*557_*564dupACACAC others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | ||||||
| chrX:44148230 | C | T | 12 | a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(9): Show |
46 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*565G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 565 | chrX | 44148230 | ||||||
| chrX:44148765 | A | C | 1 | a0001c0001t0008 | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*30T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 30 | chrX | 44148765 | ||||||
| chrX:44343633 | G | A | 1 | a0001c0001t0016 | 1 | HG06807.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-45C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/15 | chrX | 44343633 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44149116 | T | C | 133 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(130): Show |
133 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(130): Show |
intron_variant | MODIFIER | c.2149-220A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149116 | |||||||
| chrX:44149225 | G | A | 2 | a0001c0001t0001g0083 a0001c0001t0001g0110 |
2 | NA19000.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.2149-329C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149225 | |||||||
| chrX:44149428 | G | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2149-532C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149428 | |||||||
| chrX:44149462 | T | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2149-566A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149462 | |||||||
| chrX:44149759 | A | C | 75 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(72): Show |
75 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.2149-863T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149759 | |||||||
| chrX:44149964 | C | G | 1 | a0001c0001t0004g0176 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2149-1068G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149964 | |||||||
| chrX:44150411 | C | T | 203 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(200): Show |
203 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(200): Show |
intron_variant | MODIFIER | c.2149-1515G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44150411 | |||||||
| chrX:44150751 | A | T | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.2149-1855T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44150751 | |||||||
| chrX:44151037 | G | A | 27 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(24): Show |
27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.2149-2141C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151037 | |||||||
| chrX:44151572 | A | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2149-2676T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151572 | |||||||
| chrX:44151781 | A | T | 9 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(6): Show |
9 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.2149-2885T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151781 | |||||||
| chrX:44152016 | T | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2149-3120A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152016 | |||||||
| chrX:44152667 | G | A | 7 | a0001c0001t0001g0071 a0001c0001t0001g0194 a0001c0001t0009g0004 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2149-3771C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152667 | |||||||
| chrX:44152725 | T | TAC | 12 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
12 | HG02083.hp1 HG02129.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.2149-3831_2149-383 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | T | TACAC | 53 | a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0003g0013 others(50): Show |
53 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.2149-3833_2149-383 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | T | TACACAC | 6 | a0001c0001t0003g0184 a0001c0001t0006g0002 a0001c0001t0006g0075 others(3): Show |
6 | HG01243.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2149-3835_2149-383 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | T | TACACACA others(5): Show |
1 | a0001c0001t0006g0021 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2149-3841_2149-383 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | TAC | T | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 HG00738.hp1 NA18940.hp1 others(12): Show |
intron_variant | MODIFIER | c.2149-3831_2149-383 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | TACAC | T | 26 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(23): Show |
26 | HG01169.hp1 HG01255.hp1 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.2149-3833_2149-383 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | TACACAC | T | 38 | a0001c0001t0001g0071 a0001c0001t0001g0194 a0001c0001t0002g0061 others(35): Show |
38 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(35): Show |
intron_variant | MODIFIER | c.2149-3835_2149-383 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152725 | TACACACA others(1): Show |
T | 2 | a0001c0001t0001g0195 a0001c0001t0001g0196 |
2 | HG02630.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2149-3837_2149-383 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | |||||||
| chrX:44152759 | A | T | 1 | a0002c0002t0007g0218 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2149-3863T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152759 | |||||||
| chrX:44153694 | C | T | 2 | a0005c0005t0001g0053 a0005c0005t0001g0122 |
2 | NA18612.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.2149-4798G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44153694 | |||||||
| chrX:44153942 | T | C | 42 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0194 others(39): Show |
42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2149-5046A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44153942 | |||||||
| chrX:44154559 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2149-5663G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44154559 | |||||||
| chrX:44155506 | G | A | 1 | a0001c0001t0004g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2149-6610C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44155506 | |||||||
| chrX:44156268 | T | G | 65 | a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0003g0013 others(62): Show |
65 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.2149-7372A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156268 | |||||||
| chrX:44156281 | G | A | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2149-7385C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156281 | |||||||
| chrX:44156408 | G | A | 1 | a0001c0001t0001g0037 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2149-7512C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156408 | |||||||
| chrX:44156602 | A | T | 34 | a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0085 others(31): Show |
34 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(31): Show |
intron_variant | MODIFIER | c.2148+7320T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156602 | |||||||
| chrX:44156978 | T | G | 74 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(71): Show |
74 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.2148+6944A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156978 | |||||||
| chrX:44157054 | A | C | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2148+6868T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157054 | |||||||
| chrX:44157648 | T | C | 17 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(14): Show |
17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.2148+6274A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157648 | |||||||
| chrX:44157750 | C | CCCACCA | 5 | a0001c0001t0007g0119 a0002c0002t0007g0154 a0002c0002t0007g0187 others(2): Show |
5 | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.2148+6171_2148+617 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157750 | |||||||
| chrX:44157750 | C | CCCGCCA | 126 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(123): Show |
126 | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(123): Show |
intron_variant | MODIFIER | c.2148+6171_2148+617 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157750 | |||||||
| chrX:44158059 | T | C | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2148+5863A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158059 | |||||||
| chrX:44158123 | G | A | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2148+5799C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158123 | |||||||
| chrX:44158225 | C | G | 1 | a0001c0001t0015g0064 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2148+5697G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158225 | |||||||
| chrX:44158586 | T | A | 15 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(12): Show |
15 | HG01081.hp1 HG01361.hp1 HG01496.hp1 others(12): Show |
intron_variant | MODIFIER | c.2148+5336A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158586 | |||||||
| chrX:44158842 | A | T | 1 | a0001c0001t0003g0183 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2148+5080T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158842 | |||||||
| chrX:44158968 | T | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2148+4954A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158968 | |||||||
| chrX:44159113 | G | A | 3 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 |
3 | HG02698.hp1 HG03492.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.2148+4809C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159113 | |||||||
| chrX:44159134 | A | G | 204 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(201): Show |
204 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.2148+4788T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159134 | |||||||
| chrX:44159275 | G | A | 1 | a0001c0001t0001g0200 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2148+4647C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159275 | |||||||
| chrX:44159630 | G | C | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2148+4292C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159630 | |||||||
| chrX:44160058 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0004g0060 |
2 | HG03654.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.2148+3864C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160058 | |||||||
| chrX:44160151 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0004g0102 |
2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2148+3771G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160151 | |||||||
| chrX:44160606 | C | T | 3 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0197 |
3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2148+3316G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160606 | |||||||
| chrX:44160650 | G | A | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2148+3272C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160650 | |||||||
| chrX:44160703 | C | T | 7 | a0001c0001t0001g0071 a0001c0001t0001g0194 a0001c0001t0009g0004 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2148+3219G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160703 | |||||||
| chrX:44160727 | G | A | 33 | a0001c0001t0003g0043 a0001c0001t0003g0085 a0001c0001t0003g0112 others(30): Show |
33 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(30): Show |
intron_variant | MODIFIER | c.2148+3195C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160727 | |||||||
| chrX:44160791 | G | A | 1 | a0001c0001t0003g0136 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.2148+3131C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160791 | |||||||
| chrX:44161101 | C | T | 1 | a0001c0001t0001g0128 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2148+2821G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161101 | |||||||
| chrX:44161103 | C | A | 1 | a0001c0001t0001g0082 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2148+2819G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161103 | |||||||
| chrX:44161415 | C | T | 4 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(1): Show |
4 | HG02004.hp2 HG02148.hp2 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.2148+2507G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161415 | |||||||
| chrX:44161631 | C | T | 1 | a0001c0001t0012g0017 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2148+2291G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161631 | |||||||
| chrX:44162279 | T | C | 116 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(113): Show |
116 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(113): Show |
intron_variant | MODIFIER | c.2148+1643A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162279 | |||||||
| chrX:44162437 | T | C | 2 | a0001c0001t0001g0072 a0001c0001t0001g0084 |
2 | NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.2148+1485A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162437 | |||||||
| chrX:44162598 | T | A | 2 | a0001c0001t0003g0134 a0001c0001t0003g0173 |
2 | NA18955.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.2148+1324A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162598 | |||||||
| chrX:44162874 | G | A | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2148+1048C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162874 | |||||||
| chrX:44162974 | G | T | 1 | a0001c0001t0001g0083 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2148+948C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162974 | |||||||
| chrX:44163631 | T | C | 5 | a0001c0001t0009g0004 a0001c0001t0009g0006 a0001c0001t0009g0157 others(2): Show |
5 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.2148+291A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44163631 | |||||||
| chrX:44163689 | C | T | 1 | a0001c0001t0001g0128 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2148+233G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44163689 | |||||||
| chrX:44164163 | T | G | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2043-136A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164163 | |||||||
| chrX:44164301 | C | T | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2043-274G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164301 | |||||||
| chrX:44164302 | G | A | 1 | a0001c0001t0004g0102 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2043-275C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164302 | |||||||
| chrX:44164917 | C | A | 3 | a0005c0005t0001g0141 a0005c0005t0001g0142 a0009c0011t0001g0068 |
3 | NA18970.hp1 NA18990.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.2043-890G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164917 | |||||||
| chrX:44165187 | A | T | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2043-1160T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44165187 | |||||||
| chrX:44165766 | T | C | 1 | a0001c0001t0011g0046 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2043-1739A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44165766 | |||||||
| chrX:44166220 | C | T | 40 | a0001c0001t0003g0013 a0001c0001t0003g0043 a0001c0001t0003g0048 others(37): Show |
40 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(37): Show |
intron_variant | MODIFIER | c.2043-2193G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166220 | |||||||
| chrX:44166444 | C | G | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2043-2417G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166444 | |||||||
| chrX:44166910 | T | A | 42 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0194 others(39): Show |
42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2043-2883A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166910 | |||||||
| chrX:44166922 | C | G | 1 | a0001c0001t0001g0007 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2043-2895G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166922 | |||||||
| chrX:44167727 | G | A | 3 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0197 |
3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2043-3700C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167727 | |||||||
| chrX:44167990 | A | C | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2043-3963T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167990 | |||||||
| chrX:44167996 | C | T | 2 | a0001c0001t0003g0013 a0001c0001t0011g0008 |
2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2043-3969G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167996 | |||||||
| chrX:44168082 | C | G | 1 | a0001c0001t0006g0075 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2043-4055G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168082 | |||||||
| chrX:44168299 | G | A | 42 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0194 others(39): Show |
42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2043-4272C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168299 | |||||||
| chrX:44168388 | T | C | 7 | a0001c0001t0001g0071 a0001c0001t0001g0194 a0001c0001t0009g0004 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2043-4361A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168388 | |||||||
| chrX:44168396 | T | G | 1 | a0004c0004t0001g0019 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2043-4369A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168396 | |||||||
| chrX:44168463 | C | T | 2 | a0001c0001t0001g0143 a0001c0001t0001g0144 |
2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.2043-4436G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168463 | |||||||
| chrX:44168480 | C | T | 1 | a0001c0001t0001g0072 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2043-4453G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168480 | |||||||
| chrX:44168489 | G | A | 1 | a0005c0005t0001g0142 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.2043-4462C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168489 | |||||||
| chrX:44168510 | C | A | 42 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0194 others(39): Show |
42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2043-4483G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168510 | |||||||
| chrX:44168536 | G | GA | 43 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0186 others(40): Show |
43 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(40): Show |
intron_variant | MODIFIER | c.2043-4510dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168536 | |||||||
| chrX:44168697 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2043-4670G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168697 | |||||||
| chrX:44168981 | A | AG | 4 | a0001c0001t0003g0183 a0001c0001t0008g0034 a0001c0001t0008g0038 others(1): Show |
4 | HG02809.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2043-4955_2043-495 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168981 | |||||||
| chrX:44168982 | C | A | 4 | a0001c0001t0003g0183 a0001c0001t0008g0034 a0001c0001t0008g0038 others(1): Show |
4 | HG02809.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2043-4955G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168982 | |||||||
| chrX:44168991 | A | C | 3 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0197 |
3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2043-4964T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168991 | |||||||
| chrX:44169113 | A | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2043-5086T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169113 | |||||||
| chrX:44169158 | A | G | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2043-5131T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169158 | |||||||
| chrX:44169273 | ATTAT | A | 7 | a0001c0001t0001g0071 a0001c0001t0001g0194 a0001c0001t0009g0004 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2043-5250_2043-524 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169273 | |||||||
| chrX:44169486 | G | T | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2043-5459C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169486 | |||||||
| chrX:44169676 | A | G | 134 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 others(131): Show |
134 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(131): Show |
intron_variant | MODIFIER | c.2043-5649T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169676 | |||||||
| chrX:44169722 | T | TAC | 62 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0035 others(59): Show |
62 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.2043-5697_2043-569 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | |||||||
| chrX:44169722 | T | TACAC | 7 | a0003c0003t0002g0050 a0003c0003t0002g0054 a0003c0003t0002g0055 others(4): Show |
7 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.2043-5699_2043-569 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | |||||||
| chrX:44169722 | TAC | T | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2043-5697_2043-569 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | |||||||
| chrX:44169746 | T | C | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.2043-5719A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169746 | |||||||
| chrX:44170096 | T | C | 1 | a0001c0001t0001g0014 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2043-6069A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170096 | |||||||
| chrX:44170137 | C | A | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2043-6110G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170137 | |||||||
| chrX:44170197 | A | C | 1 | a0001c0001t0015g0064 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2042+6095T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170197 | |||||||
| chrX:44170250 | GT | G | 40 | a0001c0001t0001g0071 a0001c0001t0001g0194 a0001c0001t0002g0061 others(37): Show |
40 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.2042+6041delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170250 | |||||||
| chrX:44170480 | T | C | 4 | a0002c0002t0004g0125 a0002c0002t0004g0207 a0002c0008t0004g0052 others(1): Show |
4 | HG02074.hp1 NA18943.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.2042+5812A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170480 | |||||||
| chrX:44170822 | T | C | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2042+5470A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170822 | |||||||
| chrX:44170859 | C | T | 2 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | HG00642.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2042+5433G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170859 | |||||||
| chrX:44171000 | C | T | 5 | a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 others(2): Show |
5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2042+5292G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171000 | |||||||
| chrX:44171151 | C | T | 5 | a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 others(2): Show |
5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2042+5141G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171151 | |||||||
| chrX:44171842 | A | C | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2042+4450T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171842 | |||||||
| chrX:44171921 | A | C | 1 | a0001c0001t0001g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2042+4371T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171921 | |||||||
| chrX:44172234 | C | T | 1 | a0001c0001t0005g0193 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2042+4058G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172234 | |||||||
| chrX:44172322 | T | C | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2042+3970A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172322 | |||||||
| chrX:44172762 | T | C | 42 | a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0194 others(39): Show |
42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2042+3530A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172762 | |||||||
| chrX:44172945 | C | G | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2042+3347G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172945 | |||||||
| chrX:44172961 | G | C | 1 | a0001c0001t0001g0010 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2042+3331C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172961 | |||||||
| chrX:44173204 | C | T | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2042+3088G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173204 | |||||||
| chrX:44173400 | T | C | 1 | a0001c0001t0002g0029 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2042+2892A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173400 | |||||||
| chrX:44173741 | G | A | 41 | a0001c0001t0001g0082 a0001c0001t0001g0194 a0001c0001t0002g0061 others(38): Show |
41 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(38): Show |
intron_variant | MODIFIER | c.2042+2551C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173741 | |||||||
| chrX:44173901 | C | T | 1 | a0001c0001t0004g0161 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2042+2391G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173901 | |||||||
| chrX:44173919 | C | T | 1 | a0007c0009t0014g0177 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2042+2373G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173919 | |||||||
| chrX:44173927 | T | C | 128 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(125): Show |
128 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.2042+2365A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173927 | |||||||
| chrX:44174380 | C | A | 90 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(87): Show |
90 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(87): Show |
intron_variant | MODIFIER | c.2042+1912G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174380 | |||||||
| chrX:44174651 | A | AG | 71 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(68): Show |
71 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(68): Show |
intron_variant | MODIFIER | c.2042+1640dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174651 | |||||||
| chrX:44174651 | A | AGG | 15 | a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0100 others(12): Show |
15 | HG00438.hp2 HG02258.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2042+1639_2042+164 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174651 | |||||||
| chrX:44174688 | A | G | 1 | a0001c0001t0002g0104 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2042+1604T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174688 | |||||||
| chrX:44174699 | G | A | 2 | a0001c0001t0001g0086 a0001c0001t0001g0129 |
2 | HG02027.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.2042+1593C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174699 | |||||||
| chrX:44174712 | G | A | 1 | a0001c0001t0006g0002 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2042+1580C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174712 | |||||||
| chrX:44175264 | T | G | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2042+1028A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44175264 | |||||||
| chrX:44175754 | C | T | 2 | a0001c0001t0009g0004 a0001c0001t0009g0006 |
2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2042+538G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44175754 | |||||||
| chrX:44176099 | T | C | 6 | a0001c0001t0001g0194 a0001c0001t0009g0004 a0001c0001t0009g0006 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.2042+193A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44176099 | |||||||
| chrX:44176283 | C | T | 1 | a0001c0001t0005g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2042+9G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44176283 | |||||||
| chrX:44176428 | C | T | 22 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(19): Show |
22 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.1950-44G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44176428 | |||||||
| chrX:44176714 | T | C | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1950-330A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44176714 | |||||||
| chrX:44176847 | G | A | 1 | a0001c0001t0001g0113 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1950-463C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44176847 | |||||||
| chrX:44177034 | A | G | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1950-650T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177034 | |||||||
| chrX:44177194 | C | T | 1 | a0001c0001t0003g0085 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1950-810G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177194 | |||||||
| chrX:44177824 | A | G | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1949+543T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177824 | |||||||
| chrX:44177967 | C | CA | 7 | a0001c0001t0001g0200 a0001c0001t0007g0119 a0001c0006t0001g0022 others(4): Show |
7 | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.1949+399dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177967 | |||||||
| chrX:44178063 | G | A | 1 | a0001c0001t0001g0113 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1949+304C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178063 | |||||||
| chrX:44178129 | T | TAACACAC others(7): Show |
1 | a0001c0001t0001g0015 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1949+237_1949+238i others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TAACACAC others(9): Show |
1 | a0001c0001t0001g0003 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1949+237_1949+238i others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCA | 8 | a0001c0001t0001g0042 a0001c0001t0001g0159 a0001c0001t0001g0169 others(5): Show |
8 | HG00673.hp1 HG00738.hp1 HG01168.hp1 others(5): Show |
intron_variant | MODIFIER | c.1949+236_1949+237d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(1): Show |
9 | a0001c0001t0001g0194 a0001c0001t0002g0029 a0001c0001t0003g0173 others(6): Show |
9 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1949+230_1949+237d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(3): Show |
13 | a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0002g0061 others(10): Show |
13 | HG01243.hp1 HG01361.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.1949+228_1949+237d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(5): Show |
40 | a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0002g0078 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.1949+226_1949+237d others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(7): Show |
19 | a0001c0001t0001g0190 a0001c0001t0002g0095 a0001c0001t0002g0098 others(16): Show |
19 | HG00621.hp1 HG01081.hp1 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.1949+224_1949+237d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(9): Show |
14 | a0001c0001t0001g0101 a0001c0001t0002g0079 a0001c0001t0002g0094 others(11): Show |
14 | HG00642.hp1 HG01168.hp2 HG01496.hp1 others(11): Show |
intron_variant | MODIFIER | c.1949+222_1949+237d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(11): Show |
8 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 others(5): Show |
8 | HG01934.hp1 HG02572.hp1 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.1949+220_1949+237d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | T | TCACACAC others(13): Show |
1 | a0001c0001t0001g0014 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1949+218_1949+237d others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | TCA | T | 4 | a0001c0001t0001g0210 a0001c0001t0003g0030 a0001c0001t0006g0028 others(1): Show |
4 | HG01169.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1949+236_1949+237d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | TCACA | T | 8 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(5): Show |
8 | HG02055.hp1 HG02280.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.1949+234_1949+237d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | TCACACA | T | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1949+232_1949+237d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | TCACACAC others(1): Show |
T | 2 | a0001c0001t0013g0031 a0001c0001t0013g0033 |
2 | HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1949+230_1949+237d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178129 | TCACACAC others(3): Show |
T | 5 | a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 others(2): Show |
5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1949+228_1949+237d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | |||||||
| chrX:44178276 | T | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1949+91A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178276 | |||||||
| chrX:44178888 | A | G | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1752-324T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44178888 | |||||||
| chrX:44178969 | T | C | 1 | a0001c0001t0003g0136 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1752-405A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44178969 | |||||||
| chrX:44179053 | A | G | 3 | a0001c0001t0003g0048 a0001c0001t0003g0117 a0001c0001t0003g0204 |
3 | NA18952.hp1 NA18959.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1752-489T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179053 | |||||||
| chrX:44179172 | T | TA | 17 | a0001c0001t0001g0009 a0001c0001t0005g0001 a0001c0001t0005g0036 others(14): Show |
17 | HG00438.hp2 HG02055.hp1 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.1752-609dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179172 | |||||||
| chrX:44179238 | T | C | 17 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(14): Show |
17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1752-674A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179238 | |||||||
| chrX:44179842 | T | C | 1 | a0001c0001t0001g0062 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1752-1278A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179842 | |||||||
| chrX:44179960 | G | A | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-1396C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179960 | |||||||
| chrX:44180063 | G | A | 5 | a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 others(2): Show |
5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-1499C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180063 | |||||||
| chrX:44180109 | C | T | 5 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0006c0007t0002g0024 others(2): Show |
5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1752-1545G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180109 | |||||||
| chrX:44180346 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0004g0102 |
2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1752-1782G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180346 | |||||||
| chrX:44180394 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1752-1830G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180394 | |||||||
| chrX:44180435 | T | C | 131 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(128): Show |
131 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(128): Show |
intron_variant | MODIFIER | c.1752-1871A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180435 | |||||||
| chrX:44180484 | G | A | 1 | a0001c0001t0001g0128 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1752-1920C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180484 | |||||||
| chrX:44180737 | C | CAAAT | 37 | a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0003g0013 others(34): Show |
37 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.1752-2177_1752-217 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180737 | |||||||
| chrX:44180757 | T | TAAAA | 27 | a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0117 others(24): Show |
27 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(24): Show |
intron_variant | MODIFIER | c.1752-2197_1752-219 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180757 | |||||||
| chrX:44180930 | CA | C | 124 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(121): Show |
124 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(121): Show |
intron_variant | MODIFIER | c.1752-2367delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180930 | |||||||
| chrX:44181080 | C | G | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-2516G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181080 | |||||||
| chrX:44181106 | A | G | 4 | a0001c0001t0003g0208 a0001c0001t0003g0219 a0008c0010t0003g0168 others(1): Show |
4 | NA18939.hp1 NA18969.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-2542T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181106 | |||||||
| chrX:44181171 | T | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-2607A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181171 | |||||||
| chrX:44181282 | TA | T | 12 | a0001c0001t0003g0123 a0001c0001t0003g0136 a0001c0001t0003g0139 others(9): Show |
12 | HG02155.hp2 HG02257.hp1 NA18939.hp1 others(9): Show |
intron_variant | MODIFIER | c.1752-2719delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181282 | |||||||
| chrX:44181349 | GA | G | 20 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(17): Show |
20 | HG01074.hp1 HG01109.hp1 HG01952.hp1 others(17): Show |
intron_variant | MODIFIER | c.1752-2786delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181349 | |||||||
| chrX:44181397 | C | T | 22 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(19): Show |
22 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.1752-2833G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181397 | |||||||
| chrX:44181664 | G | A | 1 | a0001c0001t0001g0037 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1752-3100C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181664 | |||||||
| chrX:44181982 | G | A | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-3418C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181982 | |||||||
| chrX:44182149 | A | G | 1 | a0004c0004t0001g0019 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1752-3585T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44182149 | |||||||
| chrX:44182980 | A | G | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1752-4416T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44182980 | |||||||
| chrX:44183146 | C | T | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-4582G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183146 | |||||||
| chrX:44183333 | G | A | 1 | a0001c0001t0003g0185 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1752-4769C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183333 | |||||||
| chrX:44183521 | G | T | 5 | a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 others(2): Show |
5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-4957C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183521 | |||||||
| chrX:44183585 | C | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1752-5021G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183585 | |||||||
| chrX:44183663 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1752-5099A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183663 | |||||||
| chrX:44183717 | T | C | 46 | a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0003g0013 others(43): Show |
46 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(43): Show |
intron_variant | MODIFIER | c.1752-5153A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183717 | |||||||
| chrX:44183743 | C | T | 1 | a0001c0001t0003g0173 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1752-5179G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183743 | |||||||
| chrX:44183810 | G | A | 1 | a0001c0001t0006g0075 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1752-5246C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183810 | |||||||
| chrX:44184047 | T | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-5483A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184047 | |||||||
| chrX:44184406 | CT | C | 2 | a0001c0001t0001g0067 a0001c0001t0001g0152 |
2 | HG02004.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.1752-5843delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184406 | |||||||
| chrX:44184494 | C | T | 1 | a0001c0001t0001g0190 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1752-5930G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184494 | |||||||
| chrX:44184723 | CA | C | 50 | a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0089 others(47): Show |
50 | HG00438.hp2 HG00558.hp1 HG01070.hp1 others(47): Show |
intron_variant | MODIFIER | c.1752-6160delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184723 | |||||||
| chrX:44184723 | CAA | C | 45 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(42): Show |
45 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(42): Show |
intron_variant | MODIFIER | c.1752-6161_1752-616 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184723 | |||||||
| chrX:44185017 | T | C | 1 | a0001c0001t0001g0091 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1752-6453A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185017 | |||||||
| chrX:44185222 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1752-6658G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185222 | |||||||
| chrX:44185542 | CT | C | 13 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1752-6979delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185542 | |||||||
| chrX:44186011 | G | A | 1 | a0001c0001t0001g0015 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1752-7447C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186011 | |||||||
| chrX:44186163 | T | C | 44 | a0001c0001t0001g0039 a0001c0001t0003g0013 a0001c0001t0003g0030 others(41): Show |
44 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(41): Show |
intron_variant | MODIFIER | c.1752-7599A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186163 | |||||||
| chrX:44186344 | T | A | 66 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(63): Show |
66 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(63): Show |
intron_variant | MODIFIER | c.1752-7780A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186344 | |||||||
| chrX:44186483 | G | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-7919C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186483 | |||||||
| chrX:44186753 | G | C | 41 | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0065 others(38): Show |
41 | HG00140.hp1 HG00558.hp1 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.1752-8189C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186753 | |||||||
| chrX:44186932 | A | G | 2 | a0001c0001t0002g0078 a0001c0001t0002g0104 |
2 | HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1752-8368T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186932 | |||||||
| chrX:44187135 | G | GATATATA others(38): Show |
1 | a0001c0001t0005g0179 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(49): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(3): Show |
4 | a0001c0001t0001g0194 a0001c0001t0009g0004 a0001c0001t0009g0006 others(1): Show |
4 | HG02257.hp2 HG02451.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-8581_1752-857 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(5): Show |
2 | a0001c0001t0009g0157 a0001c0001t0009g0180 |
2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.1752-8583_1752-857 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(7): Show |
5 | a0001c0001t0007g0119 a0002c0002t0007g0154 a0002c0002t0007g0187 others(2): Show |
5 | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.1752-8585_1752-857 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(9): Show |
17 | a0001c0001t0002g0061 a0001c0001t0002g0094 a0001c0001t0002g0095 others(14): Show |
17 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(14): Show |
intron_variant | MODIFIER | c.1752-8587_1752-857 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(11): Show |
7 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(4): Show |
7 | HG01975.hp2 HG01981.hp2 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(13): Show |
7 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0197 others(4): Show |
7 | HG02886.hp1 HG03041.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(15): Show |
6 | a0001c0001t0003g0185 a0001c0001t0010g0131 a0003c0003t0002g0097 others(3): Show |
6 | HG01361.hp1 HG01515.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(17): Show |
6 | a0001c0001t0002g0029 a0001c0001t0006g0002 a0001c0001t0016g0220 others(3): Show |
6 | HG01070.hp1 HG01071.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(19): Show |
2 | a0001c0001t0003g0030 a0003c0003t0002g0056 |
2 | HG01169.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(21): Show |
5 | a0001c0001t0003g0043 a0001c0001t0003g0145 a0001c0001t0006g0028 others(2): Show |
5 | HG01168.hp2 HG01981.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(23): Show |
7 | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0100 others(4): Show |
7 | HG01081.hp1 HG01928.hp1 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(25): Show |
7 | a0001c0001t0001g0014 a0001c0001t0003g0134 a0001c0001t0011g0051 others(4): Show |
7 | HG01943.hp1 HG01975.hp1 HG02148.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(36): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(27): Show |
8 | a0001c0001t0003g0112 a0001c0001t0003g0208 a0001c0001t0003g0219 others(5): Show |
8 | HG01496.hp1 HG02451.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(38): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(29): Show |
11 | a0001c0001t0001g0015 a0001c0001t0001g0101 a0001c0001t0003g0139 others(8): Show |
11 | HG00438.hp2 HG01243.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(40): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(31): Show |
5 | a0001c0001t0003g0163 a0001c0001t0005g0036 a0001c0001t0005g0081 others(2): Show |
5 | HG00621.hp1 NA18960.hp1 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(42): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(33): Show |
7 | a0001c0001t0003g0121 a0001c0001t0003g0136 a0001c0001t0003g0165 others(4): Show |
7 | HG00741.hp1 HG02280.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(44): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(35): Show |
6 | a0001c0001t0001g0039 a0001c0001t0003g0118 a0001c0001t0003g0123 others(3): Show |
6 | NA18953.hp1 NA18981.hp1 NA18988.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(46): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(37): Show |
4 | a0001c0001t0003g0048 a0001c0001t0003g0117 a0001c0001t0003g0184 others(1): Show |
4 | HG03688.hp1 NA18940.hp1 NA18952.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(48): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(39): Show |
4 | a0001c0001t0003g0204 a0001c0001t0005g0147 a0001c0001t0005g0193 others(1): Show |
4 | NA18961.hp1 NA19063.hp1 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(50): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTATATAT others(41): Show |
2 | a0001c0001t0005g0171 a0001c0001t0005g0212 |
2 | NA18977.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(52): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTGTATAT others(13): Show |
3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTGTATAT others(19): Show |
1 | a0001c0001t0004g0102 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTGTATAT others(23): Show |
1 | a0001c0001t0001g0082 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTGTATAT others(29): Show |
1 | a0001c0001t0010g0133 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(40): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187135 | G | GTTATATA others(26): Show |
1 | a0001c0001t0001g0003 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(37): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | |||||||
| chrX:44187449 | A | T | 36 | a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0002g0078 others(33): Show |
36 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.1752-8885T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187449 | |||||||
| chrX:44187513 | GTCTGTA | G | 5 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0006c0007t0002g0024 others(2): Show |
5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1752-8955_1752-895 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187513 | |||||||
| chrX:44187905 | G | A | 1 | a0002c0002t0002g0201 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1752-9341C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187905 | |||||||
| chrX:44187934 | C | T | 1 | a0001c0001t0001g0065 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1752-9370G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187934 | |||||||
| chrX:44187970 | G | GT | 210 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(207): Show |
210 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(207): Show |
intron_variant | MODIFIER | c.1752-9407dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187970 | |||||||
| chrX:44187972 | T | TG | 2 | a0001c0001t0002g0029 a0001c0001t0012g0017 |
2 | HG01243.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1752-9409_1752-940 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187972 | |||||||
| chrX:44188146 | A | ATT | 59 | a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0043 others(56): Show |
59 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.1752-9584_1752-958 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188146 | |||||||
| chrX:44188146 | AT | A | 5 | a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0004g0041 others(2): Show |
5 | HG00558.hp2 HG00609.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-9583delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188146 | |||||||
| chrX:44189027 | G | A | 1 | a0001c0001t0003g0139 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1752-10463C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189027 | |||||||
| chrX:44189058 | T | G | 1 | a0001c0001t0003g0136 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1752-10494A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189058 | |||||||
| chrX:44189098 | C | T | 1 | a0001c0001t0011g0046 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1752-10534G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189098 | |||||||
| chrX:44189122 | C | CA | 87 | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0049 others(84): Show |
87 | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(84): Show |
intron_variant | MODIFIER | c.1752-10559dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | |||||||
| chrX:44189122 | C | CAA | 19 | a0001c0001t0003g0121 a0001c0001t0007g0119 a0001c0001t0016g0220 others(16): Show |
19 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1752-10560_1752-10 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | |||||||
| chrX:44189122 | CA | C | 11 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1752-10559delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | |||||||
| chrX:44190059 | T | C | 1 | a0001c0001t0002g0079 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1752-11495A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190059 | |||||||
| chrX:44190130 | A | G | 2 | a0001c0001t0001g0195 a0001c0001t0001g0196 |
2 | HG02630.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1752-11566T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190130 | |||||||
| chrX:44190233 | C | T | 1 | a0001c0001t0005g0116 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1752-11669G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190233 | |||||||
| chrX:44190608 | G | A | 1 | a0001c0001t0001g0071 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1752-12044C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190608 | |||||||
| chrX:44190702 | G | GA | 193 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(190): Show |
193 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(190): Show |
intron_variant | MODIFIER | c.1752-12139dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190702 | |||||||
| chrX:44191261 | G | C | 5 | a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 others(2): Show |
5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-12697C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44191261 | |||||||
| chrX:44191668 | G | A | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1752-13104C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44191668 | |||||||
| chrX:44192061 | A | AGT | 78 | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 others(75): Show |
78 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(75): Show |
intron_variant | MODIFIER | c.1752-13499_1752-13 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | |||||||
| chrX:44192061 | A | AGTGT | 30 | a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0067 others(27): Show |
30 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.1752-13501_1752-13 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | |||||||
| chrX:44192061 | A | AGTGTGT | 2 | a0004c0004t0002g0026 a0004c0004t0002g0027 |
2 | HG02809.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1752-13503_1752-13 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | |||||||
| chrX:44192061 | A | AGTGTGTG others(1): Show |
4 | a0001c0001t0001g0005 a0003c0003t0002g0097 a0004c0004t0002g0020 others(1): Show |
4 | HG01255.hp1 HG01361.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-13505_1752-13 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | |||||||
| chrX:44192061 | AGT | A | 22 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0014 others(19): Show |
22 | HG01433.hp1 HG02258.hp1 HG02280.hp2 others(19): Show |
intron_variant | MODIFIER | c.1752-13499_1752-13 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | |||||||
| chrX:44192061 | AGTGT | A | 5 | a0001c0001t0001g0178 a0001c0001t0001g0186 a0006c0007t0002g0024 others(2): Show |
5 | HG00280.hp1 HG02572.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-13501_1752-13 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | |||||||
| chrX:44192142 | T | G | 1 | a0001c0001t0010g0131 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1752-13578A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192142 | |||||||
| chrX:44192558 | C | T | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1752-13994G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192558 | |||||||
| chrX:44192866 | ATAT | A | 29 | a0001c0001t0003g0043 a0001c0001t0003g0112 a0001c0001t0003g0121 others(26): Show |
29 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(26): Show |
intron_variant | MODIFIER | c.1752-14305_1752-14 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192866 | |||||||
| chrX:44192901 | C | A | 3 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0197 |
3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1752-14337G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192901 | |||||||
| chrX:44192903 | C | T | 1 | a0001c0001t0003g0219 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1752-14339G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192903 | |||||||
| chrX:44192935 | C | T | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-14371G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192935 | |||||||
| chrX:44193088 | A | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-14524T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193088 | |||||||
| chrX:44193401 | T | C | 1 | a0001c0001t0001g0150 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1752-14837A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193401 | |||||||
| chrX:44193493 | C | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1752-14929G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193493 | |||||||
| chrX:44193528 | A | G | 30 | a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0079 others(27): Show |
30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1752-14964T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193528 | |||||||
| chrX:44193572 | G | A | 1 | a0001c0001t0001g0082 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1752-15008C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193572 | |||||||
| chrX:44193670 | C | T | 1 | a0001c0001t0002g0197 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1752-15106G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193670 | |||||||
| chrX:44193927 | C | G | 27 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(24): Show |
27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.1752-15363G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193927 | |||||||
| chrX:44194102 | A | ATAGTCAT others(21): Show |
1 | a0010c0012t0001g0156 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15566_1752-15 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194102 | |||||||
| chrX:44194244 | AT | A | 120 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(117): Show |
120 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(117): Show |
intron_variant | MODIFIER | c.1752-15681delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194244 | |||||||
| chrX:44195076 | A | G | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1752-16512T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195076 | |||||||
| chrX:44195193 | A | T | 1 | a0010c0012t0001g0156 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16629T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195193 | |||||||
| chrX:44195364 | C | T | 17 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(14): Show |
17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1752-16800G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195364 | |||||||
| chrX:44195395 | C | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1752-16831G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195395 | |||||||
| chrX:44195444 | G | GT | 70 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(67): Show |
70 | HG00621.hp1 HG00741.hp1 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.1752-16881dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195444 | |||||||
| chrX:44195782 | A | G | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-17218T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195782 | |||||||
| chrX:44195796 | CCTTT | C | 33 | a0001c0001t0003g0013 a0001c0001t0003g0043 a0001c0001t0003g0112 others(30): Show |
33 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(30): Show |
intron_variant | MODIFIER | c.1752-17236_1752-17 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195796 | |||||||
| chrX:44195959 | A | G | 30 | a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0079 others(27): Show |
30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1752-17395T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195959 | |||||||
| chrX:44196199 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0215 |
2 | HG02129.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1752-17635C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196199 | |||||||
| chrX:44196584 | C | G | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-18020G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196584 | |||||||
| chrX:44196696 | A | G | 3 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 |
3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1752-18132T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196696 | |||||||
| chrX:44196911 | T | G | 59 | a0001c0001t0001g0082 a0001c0001t0001g0194 a0001c0001t0002g0061 others(56): Show |
59 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(56): Show |
intron_variant | MODIFIER | c.1752-18347A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196911 | |||||||
| chrX:44197089 | T | C | 27 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(24): Show |
27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.1752-18525A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44197089 | |||||||
| chrX:44197289 | G | GTTCA | 2 | a0001c0001t0001g0039 a0001c0001t0001g0151 |
2 | HG01192.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1752-18729_1752-18 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44197289 | |||||||
| chrX:44197834 | G | A | 1 | a0005c0005t0001g0053 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-19270C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44197834 | |||||||
| chrX:44198145 | TA | T | 3 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 |
3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1752-19582delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198145 | |||||||
| chrX:44198230 | C | T | 1 | a0001c0001t0004g0155 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1752-19666G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198230 | |||||||
| chrX:44198531 | A | G | 2 | a0001c0001t0001g0073 a0001c0001t0001g0100 |
2 | HG02258.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1752-19967T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198531 | |||||||
| chrX:44198617 | G | A | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1752-20053C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198617 | |||||||
| chrX:44198626 | G | A | 4 | a0001c0001t0003g0183 a0001c0001t0009g0157 a0001c0001t0009g0180 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-20062C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198626 | |||||||
| chrX:44198803 | T | C | 47 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(44): Show |
47 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.1752-20239A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198803 | |||||||
| chrX:44200473 | T | C | 99 | a0001c0001t0001g0039 a0001c0001t0001g0194 a0001c0001t0002g0029 others(96): Show |
99 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.1752-21909A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44200473 | |||||||
| chrX:44200888 | C | T | 1 | a0001c0001t0001g0215 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1752-22324G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44200888 | |||||||
| chrX:44201976 | A | G | 6 | a0001c0001t0003g0048 a0001c0001t0003g0117 a0001c0001t0003g0118 others(3): Show |
6 | NA18747.hp1 NA18952.hp1 NA18953.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-23412T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201976 | |||||||
| chrX:44202367 | G | C | 1 | a0001c0001t0004g0047 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1752-23803C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202367 | |||||||
| chrX:44202373 | T | C | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1752-23809A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202373 | |||||||
| chrX:44202435 | G | T | 1 | a0001c0001t0005g0193 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1752-23871C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202435 | |||||||
| chrX:44202750 | T | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-24186A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202750 | |||||||
| chrX:44202878 | G | A | 2 | a0002c0008t0004g0052 a0002c0008t0004g0124 |
2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1752-24314C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202878 | |||||||
| chrX:44203771 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1752-25207G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44203771 | |||||||
| chrX:44203940 | A | G | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1752-25376T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44203940 | |||||||
| chrX:44204234 | C | CA | 23 | a0001c0001t0001g0037 a0001c0001t0001g0110 a0001c0001t0001g0113 others(20): Show |
23 | HG00438.hp2 HG02071.hp1 HG03942.hp1 others(20): Show |
intron_variant | MODIFIER | c.1751+25414dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | |||||||
| chrX:44204234 | C | CAA | 38 | a0001c0001t0001g0039 a0001c0001t0003g0013 a0001c0001t0003g0043 others(35): Show |
38 | HG00741.hp1 HG01168.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.1751+25413_1751+25 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | |||||||
| chrX:44204234 | CA | C | 31 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(28): Show |
31 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.1751+25414delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | |||||||
| chrX:44204929 | A | C | 1 | a0001c0001t0001g0066 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1751+24720T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204929 | |||||||
| chrX:44204965 | T | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+24684A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204965 | |||||||
| chrX:44205211 | T | C | 42 | a0001c0001t0001g0039 a0001c0001t0003g0013 a0001c0001t0003g0030 others(39): Show |
42 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(39): Show |
intron_variant | MODIFIER | c.1751+24438A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205211 | |||||||
| chrX:44205415 | T | TA | 41 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0003g0013 others(38): Show |
41 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(38): Show |
intron_variant | MODIFIER | c.1751+24233dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205415 | |||||||
| chrX:44205591 | C | A | 1 | a0001c0001t0011g0051 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1751+24058G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205591 | |||||||
| chrX:44205655 | C | T | 1 | a0001c0001t0003g0183 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1751+23994G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205655 | |||||||
| chrX:44206638 | T | C | 10 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(7): Show |
10 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.1751+23011A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206638 | |||||||
| chrX:44206790 | T | C | 44 | a0001c0001t0001g0039 a0001c0001t0002g0029 a0001c0001t0003g0013 others(41): Show |
44 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(41): Show |
intron_variant | MODIFIER | c.1751+22859A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206790 | |||||||
| chrX:44206896 | A | C | 1 | a0001c0001t0002g0029 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1751+22753T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206896 | |||||||
| chrX:44207019 | C | T | 72 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(69): Show |
72 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(69): Show |
intron_variant | MODIFIER | c.1751+22630G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207019 | |||||||
| chrX:44207035 | A | G | 13 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1751+22614T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207035 | |||||||
| chrX:44207301 | C | T | 1 | a0001c0001t0004g0132 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1751+22348G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207301 | |||||||
| chrX:44207511 | T | TA | 16 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(13): Show |
16 | HG00438.hp2 HG02896.hp1 NA18940.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+22137dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207511 | |||||||
| chrX:44207511 | T | TAA | 5 | a0001c0001t0001g0194 a0001c0001t0009g0006 a0001c0001t0009g0157 others(2): Show |
5 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+22136_1751+22 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207511 | |||||||
| chrX:44207792 | TCAACAAC others(2): Show |
T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG00140.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1751+21848_1751+21 others(15): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207792 | |||||||
| chrX:44207844 | C | T | 1 | a0005c0005t0001g0142 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1751+21805G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207844 | |||||||
| chrX:44208000 | G | A | 1 | a0001c0001t0003g0139 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1751+21649C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208000 | |||||||
| chrX:44208478 | G | A | 1 | a0001c0001t0012g0017 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1751+21171C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208478 | |||||||
| chrX:44208628 | T | C | 61 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(58): Show |
61 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(58): Show |
intron_variant | MODIFIER | c.1751+21021A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208628 | |||||||
| chrX:44208837 | C | G | 55 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(52): Show |
55 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(52): Show |
intron_variant | MODIFIER | c.1751+20812G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208837 | |||||||
| chrX:44208845 | A | G | 1 | a0001c0001t0001g0109 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1751+20804T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208845 | |||||||
| chrX:44209017 | A | G | 1 | a0001c0001t0001g0069 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1751+20632T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209017 | |||||||
| chrX:44209019 | C | CTG | 4 | a0001c0001t0001g0113 a0001c0001t0004g0160 a0001c0001t0015g0064 others(1): Show |
4 | HG00558.hp2 HG00673.hp1 NA19055.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751+20628_1751+20 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | C | CTGTGTG | 2 | a0001c0001t0004g0041 a0009c0011t0001g0068 |
2 | NA18970.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.1751+20624_1751+20 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | C | G | 1 | a0001c0001t0001g0069 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1751+20630G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTG | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0037 others(3): Show |
6 | HG01255.hp1 HG02145.hp1 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+20628_1751+20 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTG | C | 11 | a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0099 others(8): Show |
11 | HG02083.hp1 HG02132.hp1 HG03654.hp1 others(8): Show |
intron_variant | MODIFIER | c.1751+20626_1751+20 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTG | C | 20 | a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0065 others(17): Show |
20 | HG00140.hp1 HG00558.hp1 HG01069.hp1 others(17): Show |
intron_variant | MODIFIER | c.1751+20624_1751+20 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(1): Show |
C | 12 | a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0091 others(9): Show |
12 | HG00738.hp1 HG01099.hp1 HG01168.hp1 others(9): Show |
intron_variant | MODIFIER | c.1751+20622_1751+20 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(3): Show |
C | 14 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0067 others(11): Show |
14 | HG01192.hp1 HG01361.hp2 HG02004.hp2 others(11): Show |
intron_variant | MODIFIER | c.1751+20620_1751+20 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(5): Show |
C | 6 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(3): Show |
6 | HG00280.hp1 HG02630.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+20618_1751+20 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(7): Show |
C | 3 | a0001c0001t0005g0081 a0001c0001t0013g0031 a0001c0001t0013g0033 |
3 | HG02896.hp2 HG02897.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.1751+20616_1751+20 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(9): Show |
C | 2 | a0001c0001t0003g0112 a0001c0001t0008g0202 |
2 | HG03098.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1751+20614_1751+20 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(11): Show |
C | 9 | a0001c0001t0001g0216 a0001c0001t0003g0134 a0001c0001t0003g0173 others(6): Show |
9 | HG02040.hp1 HG02280.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1751+20612_1751+20 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(13): Show |
C | 7 | a0001c0001t0003g0121 a0001c0001t0003g0183 a0001c0001t0011g0008 others(4): Show |
7 | HG00621.hp1 HG04204.hp1 NA18747.hp1 others(4): Show |
intron_variant | MODIFIER | c.1751+20610_1751+20 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(15): Show |
C | 27 | a0001c0001t0001g0039 a0001c0001t0003g0030 a0001c0001t0003g0043 others(24): Show |
27 | HG00741.hp1 HG01168.hp2 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.1751+20608_1751+20 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(17): Show |
C | 16 | a0001c0001t0002g0029 a0001c0001t0003g0013 a0001c0001t0005g0001 others(13): Show |
16 | HG00438.hp2 HG02280.hp2 HG02886.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+20606_1751+20 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(19): Show |
C | 17 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(14): Show |
17 | HG02258.hp1 HG02451.hp2 HG02523.hp2 others(14): Show |
intron_variant | MODIFIER | c.1751+20604_1751+20 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(21): Show |
C | 6 | a0001c0001t0002g0197 a0001c0001t0007g0111 a0001c0001t0009g0157 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+20602_1751+20 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(23): Show |
C | 45 | a0001c0001t0001g0194 a0001c0001t0002g0079 a0001c0001t0002g0092 others(42): Show |
45 | HG00438.hp1 HG00642.hp1 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.1751+20600_1751+20 others(36): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(25): Show |
C | 1 | a0001c0001t0002g0061 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1751+20598_1751+20 others(38): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(29): Show |
C | 1 | a0001c0001t0001g0196 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1751+20594_1751+20 others(42): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209019 | CTGTGTGT others(31): Show |
C | 2 | a0001c0001t0003g0118 a0001c0001t0003g0153 |
2 | NA18953.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.1751+20592_1751+20 others(44): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | |||||||
| chrX:44209024 | T | G | 1 | a0001c0001t0001g0129 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1751+20625A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209024 | |||||||
| chrX:44209062 | T | C | 2 | a0001c0001t0003g0030 a0001c0001t0006g0028 |
2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1751+20587A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209062 | |||||||
| chrX:44209561 | A | G | 41 | a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0043 others(38): Show |
41 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(38): Show |
intron_variant | MODIFIER | c.1751+20088T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209561 | |||||||
| chrX:44209639 | A | G | 3 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 |
3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1751+20010T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209639 | |||||||
| chrX:44209702 | G | A | 1 | a0001c0001t0001g0005 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1751+19947C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209702 | |||||||
| chrX:44209790 | C | G | 2 | a0001c0001t0003g0030 a0001c0001t0006g0028 |
2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1751+19859G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209790 | |||||||
| chrX:44209832 | A | G | 128 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(125): Show |
128 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.1751+19817T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209832 | |||||||
| chrX:44209897 | C | T | 1 | a0001c0001t0003g0184 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1751+19752G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209897 | |||||||
| chrX:44209943 | A | G | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1751+19706T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209943 | |||||||
| chrX:44210069 | T | C | 105 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(102): Show |
105 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1751+19580A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210069 | |||||||
| chrX:44210081 | T | G | 1 | a0001c0001t0004g0155 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1751+19568A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210081 | |||||||
| chrX:44210119 | G | A | 47 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(44): Show |
47 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.1751+19530C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210119 | |||||||
| chrX:44210133 | T | G | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1751+19516A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210133 | |||||||
| chrX:44210397 | A | G | 17 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(14): Show |
17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1751+19252T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210397 | |||||||
| chrX:44210576 | T | C | 2 | a0001c0001t0003g0013 a0001c0001t0011g0008 |
2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1751+19073A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210576 | |||||||
| chrX:44210906 | A | T | 30 | a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0079 others(27): Show |
30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1751+18743T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210906 | |||||||
| chrX:44211380 | T | C | 58 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(55): Show |
58 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(55): Show |
intron_variant | MODIFIER | c.1751+18269A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211380 | |||||||
| chrX:44211444 | C | T | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+18205G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211444 | |||||||
| chrX:44211561 | G | T | 1 | a0001c0001t0001g0195 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1751+18088C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211561 | |||||||
| chrX:44211866 | C | CA | 37 | a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0109 others(34): Show |
37 | HG00609.hp1 HG00621.hp1 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.1751+17782dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211866 | |||||||
| chrX:44211866 | CAA | C | 18 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(15): Show |
18 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(15): Show |
intron_variant | MODIFIER | c.1751+17781_1751+17 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211866 | |||||||
| chrX:44212092 | T | C | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1751+17557A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212092 | |||||||
| chrX:44212222 | A | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1751+17427T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212222 | |||||||
| chrX:44212245 | C | A | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+17404G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212245 | |||||||
| chrX:44212310 | A | G | 3 | a0005c0005t0001g0141 a0005c0005t0001g0142 a0009c0011t0001g0068 |
3 | NA18970.hp1 NA18990.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1751+17339T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212310 | |||||||
| chrX:44212311 | A | G | 3 | a0005c0005t0001g0141 a0005c0005t0001g0142 a0009c0011t0001g0068 |
3 | NA18970.hp1 NA18990.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1751+17338T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212311 | |||||||
| chrX:44212574 | G | A | 5 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0006c0007t0002g0024 others(2): Show |
5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+17075C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212574 | |||||||
| chrX:44212994 | T | C | 132 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(129): Show |
132 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(129): Show |
intron_variant | MODIFIER | c.1751+16655A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212994 | |||||||
| chrX:44213082 | CA | C | 48 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(45): Show |
48 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(45): Show |
intron_variant | MODIFIER | c.1751+16566delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213082 | |||||||
| chrX:44213136 | A | G | 1 | a0001c0001t0002g0197 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1751+16513T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213136 | |||||||
| chrX:44213325 | C | T | 1 | a0001c0001t0001g0086 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1751+16324G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213325 | |||||||
| chrX:44213409 | T | C | 47 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(44): Show |
47 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(44): Show |
intron_variant | MODIFIER | c.1751+16240A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213409 | |||||||
| chrX:44213785 | G | A | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+15864C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213785 | |||||||
| chrX:44213908 | T | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1751+15741A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213908 | |||||||
| chrX:44214259 | T | A | 1 | a0001c0001t0010g0131 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1751+15390A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214259 | |||||||
| chrX:44214263 | G | A | 17 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(14): Show |
intron_variant | MODIFIER | c.1751+15386C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214263 | |||||||
| chrX:44214455 | C | T | 5 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0006c0007t0002g0024 others(2): Show |
5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+15194G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214455 | |||||||
| chrX:44214624 | G | A | 1 | a0001c0001t0005g0171 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1751+15025C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214624 | |||||||
| chrX:44214864 | G | C | 1 | a0001c0001t0001g0071 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1751+14785C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214864 | |||||||
| chrX:44214923 | T | C | 1 | a0003c0003t0002g0058 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1751+14726A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214923 | |||||||
| chrX:44215091 | G | A | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+14558C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215091 | |||||||
| chrX:44215142 | C | T | 1 | a0001c0001t0001g0005 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1751+14507G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215142 | |||||||
| chrX:44215194 | C | T | 1 | a0001c0001t0015g0064 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1751+14455G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215194 | |||||||
| chrX:44215503 | T | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+14146A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215503 | |||||||
| chrX:44215529 | TG | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+14119delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215529 | |||||||
| chrX:44215531 | G | C | 2 | a0001c0001t0002g0029 a0001c0001t0007g0111 |
2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1751+14118C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215531 | |||||||
| chrX:44216028 | C | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+13621G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216028 | |||||||
| chrX:44216370 | G | A | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+13279C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216370 | |||||||
| chrX:44216421 | G | A | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+13228C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216421 | |||||||
| chrX:44216439 | C | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+13210G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216439 | |||||||
| chrX:44216699 | T | C | 3 | a0001c0001t0005g0087 a0001c0001t0005g0171 a0001c0001t0005g0212 |
3 | NA18977.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.1751+12950A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216699 | |||||||
| chrX:44216746 | G | T | 1 | a0002c0002t0007g0218 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1751+12903C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216746 | |||||||
| chrX:44216764 | T | C | 27 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(24): Show |
27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.1751+12885A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216764 | |||||||
| chrX:44216858 | A | G | 1 | a0001c0001t0003g0184 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1751+12791T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216858 | |||||||
| chrX:44217014 | C | A | 1 | a0001c0001t0005g0174 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1751+12635G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217014 | |||||||
| chrX:44217507 | G | A | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1751+12142C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217507 | |||||||
| chrX:44217810 | C | T | 1 | a0001c0001t0001g0009 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1751+11839G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217810 | |||||||
| chrX:44217893 | C | T | 5 | a0001c0001t0004g0063 a0001c0001t0004g0090 a0001c0001t0004g0132 others(2): Show |
5 | HG01261.hp1 HG01361.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+11756G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217893 | |||||||
| chrX:44218002 | T | A | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+11647A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44218002 | |||||||
| chrX:44218250 | A | C | 1 | a0004c0004t0002g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1751+11399T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44218250 | |||||||
| chrX:44219145 | T | TAAA | 5 | a0001c0001t0001g0003 a0001c0001t0001g0073 a0001c0001t0001g0100 others(2): Show |
5 | HG01169.hp1 HG02258.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1751+10501_1751+10 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | |||||||
| chrX:44219145 | T | TAAAA | 49 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0039 others(46): Show |
49 | HG00438.hp2 HG01070.hp1 HG01071.hp2 others(46): Show |
intron_variant | MODIFIER | c.1751+10500_1751+10 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | |||||||
| chrX:44219145 | T | TAAAAA | 63 | a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0002g0079 others(60): Show |
63 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.1751+10499_1751+10 others(11): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | |||||||
| chrX:44219145 | T | TAAAAAA | 11 | a0001c0001t0001g0082 a0001c0001t0002g0029 a0001c0001t0003g0118 others(8): Show |
11 | HG02523.hp2 HG02572.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.1751+10498_1751+10 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | |||||||
| chrX:44219145 | TA | T | 5 | a0001c0001t0001g0109 a0001c0001t0001g0166 a0005c0005t0001g0141 others(2): Show |
5 | HG00609.hp1 HG02165.hp1 NA18970.hp1 others(2): Show |
intron_variant | MODIFIER | c.1751+10503delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | |||||||
| chrX:44219518 | A | G | 17 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(14): Show |
17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1751+10131T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219518 | |||||||
| chrX:44219659 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0215 |
2 | HG02129.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1751+9990C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219659 | |||||||
| chrX:44219723 | T | C | 16 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(13): Show |
16 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+9926A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219723 | |||||||
| chrX:44219725 | G | C | 1 | a0003c0003t0002g0106 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1751+9924C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219725 | |||||||
| chrX:44219734 | G | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+9915C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219734 | |||||||
| chrX:44219867 | C | T | 1 | a0001c0001t0006g0040 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1751+9782G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219867 | |||||||
| chrX:44219952 | C | T | 7 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0071 others(4): Show |
7 | HG02280.hp2 HG02451.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1751+9697G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219952 | |||||||
| chrX:44220212 | C | T | 204 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(201): Show |
204 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.1751+9437G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220212 | |||||||
| chrX:44220526 | T | C | 30 | a0001c0001t0002g0061 a0001c0001t0002g0078 a0001c0001t0002g0079 others(27): Show |
30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1751+9123A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220526 | |||||||
| chrX:44220648 | C | A | 127 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(124): Show |
127 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(124): Show |
intron_variant | MODIFIER | c.1751+9001G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220648 | |||||||
| chrX:44221143 | G | C | 128 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(125): Show |
128 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.1751+8506C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221143 | |||||||
| chrX:44221269 | G | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+8380C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221269 | |||||||
| chrX:44221347 | A | G | 1 | a0001c0006t0006g0103 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1751+8302T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221347 | |||||||
| chrX:44221368 | G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1751+8281C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221368 | |||||||
| chrX:44221373 | C | A | 3 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 |
3 | HG02976.hp1 HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1751+8276G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221373 | |||||||
| chrX:44221434 | G | T | 1 | a0001c0001t0001g0158 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1751+8215C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221434 | |||||||
| chrX:44221572 | A | C | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+8077T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221572 | |||||||
| chrX:44221713 | A | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1751+7936T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221713 | |||||||
| chrX:44221763 | C | T | 10 | a0002c0002t0002g0182 a0003c0003t0002g0018 a0003c0003t0002g0050 others(7): Show |
10 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.1751+7886G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221763 | |||||||
| chrX:44222105 | T | C | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1751+7544A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222105 | |||||||
| chrX:44222162 | T | C | 1 | a0001c0001t0008g0199 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1751+7487A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222162 | |||||||
| chrX:44222356 | A | G | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+7293T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222356 | |||||||
| chrX:44222445 | A | G | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+7204T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222445 | |||||||
| chrX:44222474 | G | A | 53 | a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0002g0078 others(50): Show |
53 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.1751+7175C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222474 | |||||||
| chrX:44222586 | C | A | 1 | a0001c0001t0005g0193 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1751+7063G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222586 | |||||||
| chrX:44222606 | A | G | 1 | a0001c0001t0001g0083 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1751+7043T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222606 | |||||||
| chrX:44222885 | T | A | 3 | a0001c0001t0002g0061 a0001c0001t0002g0094 a0001c0001t0002g0095 |
3 | HG00642.hp1 HG01081.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1751+6764A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222885 | |||||||
| chrX:44223135 | T | A | 16 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(13): Show |
16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+6514A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223135 | |||||||
| chrX:44223137 | A | G | 16 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(13): Show |
16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+6512T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223137 | |||||||
| chrX:44223211 | C | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+6438G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223211 | |||||||
| chrX:44223449 | T | C | 16 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(13): Show |
16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+6200A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223449 | |||||||
| chrX:44223505 | C | CT | 118 | a0001c0001t0001g0039 a0001c0001t0001g0082 a0001c0001t0001g0194 others(115): Show |
118 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(115): Show |
intron_variant | MODIFIER | c.1751+6143dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223505 | |||||||
| chrX:44223505 | C | CTT | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.1751+6142_1751+614 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223505 | |||||||
| chrX:44223577 | C | T | 6 | a0001c0001t0001g0194 a0001c0001t0009g0004 a0001c0001t0009g0006 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1751+6072G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223577 | |||||||
| chrX:44223614 | T | A | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+6035A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223614 | |||||||
| chrX:44223898 | G | A | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1751+5751C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223898 | |||||||
| chrX:44224308 | T | C | 4 | a0001c0001t0002g0061 a0001c0001t0002g0094 a0001c0001t0002g0095 others(1): Show |
4 | HG00642.hp1 HG01081.hp2 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751+5341A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224308 | |||||||
| chrX:44224394 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0004g0102 |
2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1751+5255G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224394 | |||||||
| chrX:44224449 | G | A | 53 | a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0002g0078 others(50): Show |
53 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.1751+5200C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224449 | |||||||
| chrX:44224691 | C | G | 2 | a0001c0001t0003g0030 a0001c0001t0006g0028 |
2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1751+4958G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224691 | |||||||
| chrX:44224752 | G | C | 39 | a0001c0001t0003g0013 a0001c0001t0003g0043 a0001c0001t0003g0048 others(36): Show |
39 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(36): Show |
intron_variant | MODIFIER | c.1751+4897C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224752 | |||||||
| chrX:44224902 | G | C | 12 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
12 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1751+4747C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224902 | |||||||
| chrX:44224910 | GTGC | G | 58 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(55): Show |
58 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(55): Show |
intron_variant | MODIFIER | c.1751+4736_1751+473 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224910 | |||||||
| chrX:44225118 | G | A | 3 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0197 |
3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1751+4531C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225118 | |||||||
| chrX:44225123 | G | A | 74 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(71): Show |
74 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.1751+4526C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225123 | |||||||
| chrX:44225166 | C | T | 74 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(71): Show |
74 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.1751+4483G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225166 | |||||||
| chrX:44225167 | T | C | 74 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(71): Show |
74 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.1751+4482A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225167 | |||||||
| chrX:44225250 | T | TA | 58 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(55): Show |
58 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(55): Show |
intron_variant | MODIFIER | c.1751+4398dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225250 | |||||||
| chrX:44225250 | T | TAA | 15 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(12): Show |
15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+4397_1751+439 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225250 | |||||||
| chrX:44225250 | TA | T | 5 | a0001c0001t0013g0031 a0002c0002t0004g0125 a0002c0002t0004g0207 others(2): Show |
5 | HG02074.hp1 HG02897.hp2 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+4398delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225250 | |||||||
| chrX:44225371 | T | C | 6 | a0001c0001t0001g0194 a0001c0001t0009g0004 a0001c0001t0009g0006 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1751+4278A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225371 | |||||||
| chrX:44225395 | G | T | 12 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
12 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1751+4254C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225395 | |||||||
| chrX:44225449 | G | C | 91 | a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0002g0078 others(88): Show |
91 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(88): Show |
intron_variant | MODIFIER | c.1751+4200C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225449 | |||||||
| chrX:44225479 | C | T | 3 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0001c0001t0011g0008 |
3 | HG02630.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1751+4170G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225479 | |||||||
| chrX:44225571 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1751+4078C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225571 | |||||||
| chrX:44226240 | A | C | 1 | a0001c0001t0001g0215 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1751+3409T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226240 | |||||||
| chrX:44226581 | G | A | 18 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0092 others(15): Show |
18 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.1751+3068C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226581 | |||||||
| chrX:44226886 | A | C | 1 | a0001c0001t0015g0064 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1751+2763T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226886 | |||||||
| chrX:44226896 | AAAAAAG | A | 6 | a0001c0001t0002g0029 a0001c0001t0007g0111 a0001c0001t0011g0008 others(3): Show |
6 | HG02572.hp1 HG02818.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+2747_1751+275 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226896 | |||||||
| chrX:44226923 | A | T | 37 | a0001c0001t0003g0030 a0001c0001t0003g0043 a0001c0001t0003g0048 others(34): Show |
37 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(34): Show |
intron_variant | MODIFIER | c.1751+2726T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226923 | |||||||
| chrX:44227893 | C | T | 16 | a0001c0001t0005g0001 a0001c0001t0005g0036 a0001c0001t0005g0080 others(13): Show |
16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+1756G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44227893 | |||||||
| chrX:44228508 | C | T | 1 | a0001c0013t0003g0044 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1751+1141G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44228508 | |||||||
| chrX:44228977 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1751+672G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44228977 | |||||||
| chrX:44229313 | G | A | 48 | a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0002g0078 others(45): Show |
48 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(45): Show |
intron_variant | MODIFIER | c.1751+336C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44229313 | |||||||
| chrX:44229476 | G | A | 10 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0003g0013 others(7): Show |
10 | HG01243.hp1 HG01255.hp1 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.1751+173C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44229476 | |||||||
| chrX:44229609 | T | C | 1 | a0001c0001t0003g0175 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1751+40A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44229609 | |||||||
| chrX:44230286 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0003g0013 others(1): Show |
4 | HG01255.hp1 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1621-507C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230286 | |||||||
| chrX:44230299 | G | A | 5 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0003g0013 others(2): Show |
5 | HG01243.hp1 HG01255.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1621-520C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230299 | |||||||
| chrX:44230856 | G | A | 1 | a0001c0001t0003g0136 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1621-1077C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230856 | |||||||
| chrX:44231307 | T | A | 5 | a0001c0001t0005g0087 a0001c0001t0005g0171 a0001c0001t0005g0193 others(2): Show |
5 | NA18970.hp1 NA18977.hp1 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1620+1174A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231307 | |||||||
| chrX:44231572 | A | C | 5 | a0001c0001t0005g0087 a0001c0001t0005g0171 a0001c0001t0005g0193 others(2): Show |
5 | NA18970.hp1 NA18977.hp1 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1620+909T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231572 | |||||||
| chrX:44231604 | G | A | 1 | a0003c0003t0002g0097 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1620+877C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231604 | |||||||
| chrX:44231684 | C | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1620+797G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231684 | |||||||
| chrX:44232029 | T | C | 204 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(201): Show |
204 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.1620+452A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232029 | |||||||
| chrX:44232090 | G | A | 13 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1620+391C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232090 | |||||||
| chrX:44232252 | C | T | 1 | a0002c0002t0002g0059 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1620+229G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232252 | |||||||
| chrX:44232713 | T | G | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1424-36A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44232713 | |||||||
| chrX:44232974 | G | A | 1 | a0002c0002t0004g0207 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1424-297C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44232974 | |||||||
| chrX:44233019 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1424-342C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233019 | |||||||
| chrX:44233783 | C | T | 5 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0008g0032 others(2): Show |
5 | HG02280.hp1 HG02630.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1424-1106G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233783 | |||||||
| chrX:44233806 | T | A | 10 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0003g0013 others(7): Show |
10 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1424-1129A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233806 | |||||||
| chrX:44234022 | A | G | 80 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(77): Show |
80 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(77): Show |
intron_variant | MODIFIER | c.1423+1283T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234022 | |||||||
| chrX:44234262 | A | T | 2 | a0001c0001t0001g0143 a0001c0001t0001g0144 |
2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1423+1043T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234262 | |||||||
| chrX:44234408 | A | G | 1 | a0001c0001t0001g0037 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1423+897T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234408 | |||||||
| chrX:44234800 | C | T | 1 | a0001c0001t0001g0190 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1423+505G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234800 | |||||||
| chrX:44235703 | T | A | 1 | a0001c0001t0006g0002 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1281-256A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235703 | |||||||
| chrX:44235710 | A | T | 1 | a0001c0001t0006g0002 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1281-263T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235710 | |||||||
| chrX:44236019 | C | CTT | 11 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0002g0029 others(8): Show |
11 | HG01169.hp1 HG01255.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.1281-574_1281-573d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236019 | |||||||
| chrX:44236303 | T | C | 1 | a0001c0001t0003g0048 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1281-856A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236303 | |||||||
| chrX:44236378 | G | A | 2 | a0001c0001t0009g0004 a0001c0001t0009g0006 |
2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1281-931C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236378 | |||||||
| chrX:44236605 | C | A | 3 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0001c0001t0011g0008 |
3 | HG02630.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1281-1158G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236605 | |||||||
| chrX:44238961 | C | G | 2 | a0001c0001t0009g0004 a0001c0001t0009g0006 |
2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1280+3160G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44238961 | |||||||
| chrX:44239153 | G | A | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1280+2968C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239153 | |||||||
| chrX:44239177 | A | G | 21 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0082 others(18): Show |
21 | HG00741.hp2 HG01070.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.1280+2944T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239177 | |||||||
| chrX:44239380 | G | A | 3 | a0001c0001t0003g0043 a0001c0001t0003g0145 a0001c0013t0003g0044 |
3 | HG01168.hp2 HG01981.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1280+2741C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239380 | |||||||
| chrX:44239523 | G | A | 4 | a0001c0001t0001g0194 a0001c0001t0009g0157 a0001c0001t0009g0180 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1280+2598C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239523 | |||||||
| chrX:44239585 | T | C | 7 | a0001c0001t0001g0039 a0001c0001t0001g0082 a0001c0001t0004g0102 others(4): Show |
7 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.1280+2536A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239585 | |||||||
| chrX:44239767 | T | C | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1280+2354A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239767 | |||||||
| chrX:44240150 | T | C | 4 | a0001c0001t0001g0210 a0001c0001t0002g0029 a0001c0001t0003g0030 others(1): Show |
4 | HG01169.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1280+1971A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240150 | |||||||
| chrX:44240161 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1280+1960T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240161 | |||||||
| chrX:44240819 | T | C | 1 | a0001c0001t0006g0021 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1280+1302A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240819 | |||||||
| chrX:44241587 | G | A | 2 | a0001c0001t0001g0007 a0001c0001t0010g0131 |
2 | HG02145.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1280+534C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241587 | |||||||
| chrX:44241596 | G | A | 75 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(72): Show |
75 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.1280+525C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241596 | |||||||
| chrX:44241757 | C | T | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1280+364G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241757 | |||||||
| chrX:44241869 | T | C | 1 | a0001c0001t0001g0108 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1280+252A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241869 | |||||||
| chrX:44241891 | G | A | 2 | a0008c0010t0003g0168 a0008c0010t0006g0162 |
2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.1280+230C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241891 | |||||||
| chrX:44241893 | GATA | G | 9 | a0001c0001t0003g0208 a0001c0001t0005g0001 a0001c0001t0005g0036 others(6): Show |
9 | HG00438.hp2 NA18940.hp1 NA18961.hp1 others(6): Show |
intron_variant | MODIFIER | c.1280+225_1280+227d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241893 | |||||||
| chrX:44241961 | T | A | 13 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1280+160A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241961 | |||||||
| chrX:44242365 | T | C | 1 | a0002c0002t0007g0154 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1112-76A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242365 | |||||||
| chrX:44242506 | TA | T | 5 | a0001c0001t0001g0169 a0001c0001t0002g0061 a0001c0001t0003g0219 others(2): Show |
5 | HG01070.hp2 HG01168.hp1 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.1112-218delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242506 | |||||||
| chrX:44242563 | A | G | 4 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 others(1): Show |
4 | HG01934.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-274T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242563 | |||||||
| chrX:44242568 | C | T | 1 | a0001c0001t0008g0202 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1112-279G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242568 | |||||||
| chrX:44242644 | G | A | 3 | a0001c0001t0009g0157 a0001c0001t0009g0180 a0001c0001t0009g0198 |
3 | HG00741.hp2 HG01070.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.1112-355C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242644 | |||||||
| chrX:44242782 | G | C | 75 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(72): Show |
75 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.1112-493C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242782 | |||||||
| chrX:44243565 | C | T | 78 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(75): Show |
78 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.1112-1276G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243565 | |||||||
| chrX:44243787 | G | C | 1 | a0001c0001t0001g0045 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1112-1498C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243787 | |||||||
| chrX:44243791 | ATT | A | 21 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0082 others(18): Show |
21 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.1112-1504_1112-150 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243791 | |||||||
| chrX:44243843 | G | A | 1 | a0003c0003t0002g0018 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1112-1554C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243843 | |||||||
| chrX:44244162 | T | C | 1 | a0001c0001t0004g0148 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1112-1873A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44244162 | |||||||
| chrX:44244725 | C | T | 17 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0082 others(14): Show |
17 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(14): Show |
intron_variant | MODIFIER | c.1112-2436G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44244725 | |||||||
| chrX:44244919 | T | A | 10 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0003g0013 others(7): Show |
10 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1112-2630A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44244919 | |||||||
| chrX:44245292 | A | G | 78 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(75): Show |
78 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.1111+2980T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44245292 | |||||||
| chrX:44245953 | T | G | 1 | a0001c0001t0001g0110 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1111+2319A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44245953 | |||||||
| chrX:44245982 | G | A | 2 | a0001c0006t0001g0023 a0001c0006t0006g0103 |
2 | HG02280.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.1111+2290C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44245982 | |||||||
| chrX:44246036 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1111+2236G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246036 | |||||||
| chrX:44246374 | T | C | 1 | a0001c0001t0003g0134 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1111+1898A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246374 | |||||||
| chrX:44246474 | C | T | 6 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0001c0001t0009g0004 others(3): Show |
6 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.1111+1798G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246474 | |||||||
| chrX:44246638 | T | C | 1 | a0001c0001t0001g0190 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1111+1634A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246638 | |||||||
| chrX:44246669 | C | T | 4 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 others(1): Show |
4 | HG01934.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1111+1603G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246669 | |||||||
| chrX:44247868 | G | A | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+404C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44247868 | |||||||
| chrX:44248019 | G | A | 43 | a0001c0001t0001g0194 a0001c0001t0002g0078 a0001c0001t0002g0079 others(40): Show |
43 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.1111+253C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44248019 | |||||||
| chrX:44248053 | T | C | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1111+219A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44248053 | |||||||
| chrX:44248496 | A | C | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.973-86T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 6/14 | chrX | 44248496 | |||||||
| chrX:44249446 | G | GT | 8 | a0001c0001t0001g0186 a0001c0001t0002g0094 a0001c0001t0002g0095 others(5): Show |
8 | HG00642.hp1 HG01081.hp2 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.859-531dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249446 | |||||||
| chrX:44249524 | A | G | 1 | a0001c0001t0001g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.859-608T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249524 | |||||||
| chrX:44249787 | T | A | 1 | a0010c0012t0001g0156 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+407A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249787 | |||||||
| chrX:44249921 | T | C | 1 | a0001c0001t0008g0202 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.858+273A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249921 | |||||||
| chrX:44250034 | C | T | 1 | a0001c0001t0012g0017 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.858+160G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44250034 | |||||||
| chrX:44250645 | C | T | 1 | a0004c0004t0001g0019 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.607-200G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250645 | |||||||
| chrX:44250660 | TA | T | 8 | a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0143 others(5): Show |
8 | HG01069.hp1 HG01943.hp1 HG02015.hp1 others(5): Show |
intron_variant | MODIFIER | c.607-216delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250660 | |||||||
| chrX:44250661 | A | T | 1 | a0010c0012t0001g0156 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-216T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250661 | |||||||
| chrX:44250825 | GA | G | 78 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(75): Show |
78 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.607-381delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250825 | |||||||
| chrX:44250925 | C | A | 1 | a0001c0001t0006g0172 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.607-480G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250925 | |||||||
| chrX:44250960 | C | T | 1 | a0001c0001t0004g0088 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.607-515G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250960 | |||||||
| chrX:44251046 | G | A | 12 | a0003c0003t0002g0018 a0003c0003t0002g0050 a0003c0003t0002g0054 others(9): Show |
12 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.607-601C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251046 | |||||||
| chrX:44251238 | C | CA | 36 | a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0089 others(33): Show |
36 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.607-794dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | |||||||
| chrX:44251238 | C | CAA | 27 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(24): Show |
27 | HG01074.hp1 HG01109.hp1 HG01358.hp1 others(24): Show |
intron_variant | MODIFIER | c.607-795_607-794dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | |||||||
| chrX:44251238 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0181 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.607-806_607-794del others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | |||||||
| chrX:44251597 | T | TA | 20 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0091 others(17): Show |
20 | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.607-1153dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | T | TAA | 17 | a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0150 others(14): Show |
17 | HG00140.hp1 HG00621.hp1 HG01099.hp1 others(14): Show |
intron_variant | MODIFIER | c.607-1154_607-1153d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | T | TAAA | 7 | a0001c0001t0001g0135 a0001c0001t0001g0159 a0001c0001t0003g0153 others(4): Show |
7 | HG00673.hp1 HG01258.hp1 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.607-1155_607-1153d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | T | TAAAA | 10 | a0001c0001t0001g0010 a0001c0001t0001g0045 a0001c0001t0001g0083 others(7): Show |
10 | HG01081.hp2 HG02015.hp1 HG02155.hp2 others(7): Show |
intron_variant | MODIFIER | c.607-1156_607-1153d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | T | TAAAAA | 7 | a0001c0001t0001g0069 a0001c0001t0001g0129 a0001c0001t0003g0117 others(4): Show |
7 | HG02027.hp1 HG02083.hp1 HG02155.hp1 others(4): Show |
intron_variant | MODIFIER | c.607-1157_607-1153d others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TA | T | 8 | a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0120 others(5): Show |
8 | HG00280.hp1 HG02523.hp2 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.607-1153delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(3): Show |
T | 2 | a0001c0001t0002g0029 a0001c0001t0003g0030 |
2 | HG01169.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.607-1162_607-1153d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(4): Show |
T | 8 | a0001c0001t0001g0210 a0001c0001t0005g0174 a0001c0001t0006g0028 others(5): Show |
8 | HG01243.hp1 HG01361.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.607-1163_607-1153d others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(5): Show |
T | 4 | a0001c0001t0006g0075 a0004c0004t0002g0020 a0004c0004t0002g0026 others(1): Show |
4 | HG02723.hp2 HG02809.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1164_607-1153d others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(6): Show |
T | 6 | a0001c0001t0001g0039 a0001c0001t0001g0082 a0001c0001t0003g0013 others(3): Show |
6 | HG02630.hp1 HG02896.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.607-1165_607-1153d others(15): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(7): Show |
T | 2 | a0001c0001t0001g0166 a0001c0001t0004g0148 |
2 | HG01433.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.607-1166_607-1153d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(8): Show |
T | 4 | a0001c0001t0001g0062 a0001c0001t0001g0127 a0001c0001t0004g0060 others(1): Show |
4 | HG02523.hp1 HG04115.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1167_607-1153d others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(9): Show |
T | 1 | a0001c0001t0003g0121 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.607-1168_607-1153d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(10): Show |
T | 3 | a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0003g0184 |
3 | HG03688.hp1 NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.607-1169_607-1153d others(19): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(11): Show |
T | 3 | a0001c0001t0001g0146 a0001c0001t0013g0031 a0001c0001t0013g0033 |
3 | HG02896.hp2 HG02897.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.607-1170_607-1153d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(12): Show |
T | 4 | a0001c0001t0003g0208 a0001c0001t0005g0081 a0001c0001t0005g0179 others(1): Show |
4 | HG02280.hp1 NA18969.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.607-1171_607-1153d others(21): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(13): Show |
T | 10 | a0001c0001t0001g0200 a0001c0001t0005g0001 a0001c0001t0005g0036 others(7): Show |
10 | HG00438.hp2 HG03098.hp1 HG03195.hp1 others(7): Show |
intron_variant | MODIFIER | c.607-1172_607-1153d others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(14): Show |
T | 3 | a0001c0001t0005g0087 a0001c0001t0006g0021 a0001c0001t0008g0199 |
3 | HG02886.hp2 NA18981.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.607-1173_607-1153d others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(15): Show |
T | 5 | a0001c0001t0001g0005 a0001c0001t0004g0047 a0001c0001t0005g0193 others(2): Show |
5 | HG01255.hp1 HG03710.hp1 NA18970.hp1 others(2): Show |
intron_variant | MODIFIER | c.607-1174_607-1153d others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(16): Show |
T | 13 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(10): Show |
13 | HG01106.hp1 HG02004.hp2 HG02148.hp1 others(10): Show |
intron_variant | MODIFIER | c.607-1175_607-1153d others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(17): Show |
T | 42 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0002g0078 others(39): Show |
42 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.607-1176_607-1153d others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(18): Show |
T | 12 | a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0001g0100 others(9): Show |
12 | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.607-1177_607-1153d others(27): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251597 | TAAAAAAA others(19): Show |
T | 1 | a0001c0001t0001g0089 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.607-1178_607-1153d others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | |||||||
| chrX:44251735 | A | G | 1 | a0003c0003t0002g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.607-1290T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251735 | |||||||
| chrX:44251800 | T | G | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1355A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251800 | |||||||
| chrX:44252243 | G | A | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.607-1798C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252243 | |||||||
| chrX:44252406 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.607-1961G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252406 | |||||||
| chrX:44252982 | C | T | 1 | a0001c0001t0006g0021 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.607-2537G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252982 | |||||||
| chrX:44252998 | G | A | 1 | a0001c0001t0005g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.607-2553C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252998 | |||||||
| chrX:44253014 | C | T | 1 | a0001c0001t0011g0046 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.607-2569G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253014 | |||||||
| chrX:44253234 | G | GT | 6 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0039 others(3): Show |
6 | HG02055.hp1 HG02647.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.607-2790dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253234 | |||||||
| chrX:44253234 | GT | G | 46 | a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0092 others(43): Show |
46 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.607-2790delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253234 | |||||||
| chrX:44253402 | C | A | 1 | a0001c0001t0001g0190 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.607-2957G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253402 | |||||||
| chrX:44253941 | G | C | 10 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0003g0013 others(7): Show |
10 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.607-3496C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253941 | |||||||
| chrX:44253964 | A | G | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.607-3519T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253964 | |||||||
| chrX:44254314 | C | A | 6 | a0001c0001t0004g0063 a0001c0001t0004g0090 a0001c0001t0004g0132 others(3): Show |
6 | HG01261.hp1 HG01361.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.607-3869G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254314 | |||||||
| chrX:44254553 | C | T | 1 | a0001c0001t0005g0174 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.607-4108G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254553 | |||||||
| chrX:44254616 | G | A | 9 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0006g0021 others(6): Show |
9 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.607-4171C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254616 | |||||||
| chrX:44254757 | T | C | 13 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0002g0029 others(10): Show |
13 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.607-4312A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254757 | |||||||
| chrX:44254776 | C | T | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.607-4331G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254776 | |||||||
| chrX:44254986 | A | G | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.607-4541T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254986 | |||||||
| chrX:44255053 | C | G | 7 | a0001c0001t0001g0039 a0001c0001t0001g0082 a0001c0001t0004g0102 others(4): Show |
7 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.607-4608G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255053 | |||||||
| chrX:44255249 | A | G | 4 | a0001c0001t0001g0194 a0001c0001t0009g0157 a0001c0001t0009g0180 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-4804T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255249 | |||||||
| chrX:44255359 | G | A | 1 | a0001c0001t0001g0065 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.607-4914C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255359 | |||||||
| chrX:44255509 | G | C | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-5064C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255509 | |||||||
| chrX:44255778 | T | C | 2 | a0001c0001t0001g0113 a0001c0001t0001g0128 |
2 | NA19070.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.606+5297A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255778 | |||||||
| chrX:44255953 | A | T | 3 | a0001c0001t0001g0200 a0001c0001t0008g0199 a0001c0001t0008g0202 |
3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.606+5122T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255953 | |||||||
| chrX:44256528 | C | G | 1 | a0001c0001t0005g0171 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.606+4547G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256528 | |||||||
| chrX:44256678 | T | G | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.606+4397A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256678 | |||||||
| chrX:44256825 | C | CACA | 83 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(80): Show |
83 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(80): Show |
intron_variant | MODIFIER | c.606+4247_606+4249d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256825 | |||||||
| chrX:44256882 | T | C | 24 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0082 others(21): Show |
24 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.606+4193A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256882 | |||||||
| chrX:44256887 | C | T | 58 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(55): Show |
58 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.606+4188G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256887 | |||||||
| chrX:44257019 | A | G | 1 | a0001c0001t0001g0009 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.606+4056T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257019 | |||||||
| chrX:44257142 | C | T | 12 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0002g0029 others(9): Show |
12 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.606+3933G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257142 | |||||||
| chrX:44257294 | G | T | 7 | a0001c0001t0001g0039 a0001c0001t0001g0082 a0001c0001t0004g0102 others(4): Show |
7 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.606+3781C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257294 | |||||||
| chrX:44257783 | A | G | 20 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0082 others(17): Show |
20 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.606+3292T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257783 | |||||||
| chrX:44257817 | G | A | 9 | a0003c0003t0002g0018 a0003c0003t0002g0050 a0003c0003t0002g0054 others(6): Show |
9 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.606+3258C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257817 | |||||||
| chrX:44258044 | T | C | 24 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0082 others(21): Show |
24 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.606+3031A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258044 | |||||||
| chrX:44258406 | A | G | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.606+2669T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258406 | |||||||
| chrX:44258435 | C | CA | 6 | a0001c0001t0003g0112 a0001c0001t0005g0087 a0001c0001t0005g0193 others(3): Show |
6 | HG01978.hp2 NA18967.hp1 NA18970.hp1 others(3): Show |
intron_variant | MODIFIER | c.606+2639dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258435 | |||||||
| chrX:44258656 | A | G | 13 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.606+2419T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258656 | |||||||
| chrX:44258699 | A | T | 2 | a0001c0001t0001g0009 a0001c0001t0001g0096 |
2 | HG02055.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.606+2376T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258699 | |||||||
| chrX:44258714 | G | A | 1 | a0001c0001t0003g0175 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.606+2361C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258714 | |||||||
| chrX:44258714 | G | C | 58 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(55): Show |
58 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.606+2361C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258714 | |||||||
| chrX:44259116 | T | C | 2 | a0002c0002t0004g0125 a0002c0002t0004g0207 |
2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.606+1959A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259116 | |||||||
| chrX:44259121 | A | G | 14 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(11): Show |
14 | HG01169.hp1 HG02280.hp1 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.606+1954T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259121 | |||||||
| chrX:44259232 | T | A | 1 | a0001c0001t0001g0108 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.606+1843A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259232 | |||||||
| chrX:44259494 | T | A | 44 | a0001c0001t0001g0009 a0001c0001t0001g0194 a0001c0001t0002g0078 others(41): Show |
44 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.606+1581A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259494 | |||||||
| chrX:44259688 | G | C | 1 | a0001c0001t0004g0148 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.606+1387C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259688 | |||||||
| chrX:44259934 | G | A | 2 | a0001c0001t0001g0143 a0001c0001t0001g0144 |
2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.606+1141C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259934 | |||||||
| chrX:44260654 | A | G | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.606+421T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44260654 | |||||||
| chrX:44261754 | C | CA | 68 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0039 others(65): Show |
68 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(65): Show |
intron_variant | MODIFIER | c.383-457dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261754 | |||||||
| chrX:44261754 | CA | C | 13 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(10): Show |
13 | HG01169.hp2 HG02015.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.383-457delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261754 | |||||||
| chrX:44261780 | T | G | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.383-482A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261780 | |||||||
| chrX:44261940 | T | A | 1 | a0001c0001t0008g0038 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.383-642A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261940 | |||||||
| chrX:44262042 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.383-744A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262042 | |||||||
| chrX:44262057 | G | C | 1 | a0001c0001t0008g0038 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.383-759C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262057 | |||||||
| chrX:44262081 | G | A | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.383-783C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262081 | |||||||
| chrX:44262512 | C | CA | 44 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 others(41): Show |
44 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(41): Show |
intron_variant | MODIFIER | c.383-1215dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262512 | |||||||
| chrX:44262512 | CA | C | 7 | a0001c0001t0001g0120 a0001c0001t0002g0078 a0001c0001t0002g0104 others(4): Show |
7 | HG01169.hp1 HG01981.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.383-1215delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262512 | |||||||
| chrX:44262531 | A | AAAGAAAA others(1): Show |
16 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | HG01361.hp1 HG01934.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.383-1234_383-1233i others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | |||||||
| chrX:44262531 | A | AAGAAAAG | 39 | a0001c0001t0001g0009 a0001c0001t0001g0194 a0001c0001t0006g0075 others(36): Show |
39 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.383-1234_383-1233i others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | |||||||
| chrX:44262531 | A | AGAAAAG | 3 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 |
3 | HG02698.hp1 HG03492.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.383-1234_383-1233i others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | |||||||
| chrX:44262531 | A | G | 1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.383-1233T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | |||||||
| chrX:44263619 | C | T | 1 | a0001c0001t0006g0075 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.383-2321G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44263619 | |||||||
| chrX:44263853 | C | T | 1 | a0001c0001t0010g0133 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.383-2555G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44263853 | |||||||
| chrX:44264531 | C | T | 70 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(67): Show |
70 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(67): Show |
intron_variant | MODIFIER | c.383-3233G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44264531 | |||||||
| chrX:44264653 | A | G | 1 | a0001c0001t0001g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.383-3355T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44264653 | |||||||
| chrX:44265020 | CTCATCT | C | 59 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show |
59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.383-3728_383-3723d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265020 | |||||||
| chrX:44265091 | A | T | 7 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0002g0078 others(4): Show |
7 | HG01243.hp1 HG01255.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.383-3793T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265091 | |||||||
| chrX:44265268 | T | A | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.383-3970A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265268 | |||||||
| chrX:44265883 | A | G | 2 | a0001c0001t0009g0157 a0001c0001t0009g0180 |
2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.383-4585T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265883 | |||||||
| chrX:44265985 | T | C | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.383-4687A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265985 | |||||||
| chrX:44266209 | T | C | 2 | a0001c0001t0001g0072 a0001c0001t0001g0084 |
2 | NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.383-4911A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266209 | |||||||
| chrX:44266355 | A | T | 3 | a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0003g0139 |
3 | HG02886.hp1 HG03225.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.383-5057T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266355 | |||||||
| chrX:44266524 | G | A | 1 | a0001c0001t0003g0163 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.383-5226C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266524 | |||||||
| chrX:44266563 | G | A | 3 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 |
3 | HG02698.hp1 HG03492.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.383-5265C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266563 | |||||||
| chrX:44267508 | C | T | 1 | a0001c0001t0004g0155 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.382+5178G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44267508 | |||||||
| chrX:44267798 | G | A | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382+4888C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44267798 | |||||||
| chrX:44267955 | C | T | 59 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show |
59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.382+4731G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44267955 | |||||||
| chrX:44268938 | C | T | 1 | a0001c0001t0003g0123 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.382+3748G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44268938 | |||||||
| chrX:44269237 | G | A | 63 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(60): Show |
63 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.382+3449C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44269237 | |||||||
| chrX:44269402 | C | T | 12 | a0003c0003t0002g0018 a0003c0003t0002g0050 a0003c0003t0002g0054 others(9): Show |
12 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.382+3284G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44269402 | |||||||
| chrX:44269950 | C | A | 3 | a0001c0001t0001g0049 a0001c0001t0001g0120 a0001c0001t0001g0205 |
3 | NA18948.hp1 NA18965.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.382+2736G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44269950 | |||||||
| chrX:44270105 | C | T | 1 | a0001c0001t0001g0128 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.382+2581G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270105 | |||||||
| chrX:44270379 | A | C | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.382+2307T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270379 | |||||||
| chrX:44270413 | A | T | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382+2273T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270413 | |||||||
| chrX:44270916 | T | C | 3 | a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0006g0103 |
3 | HG02280.hp2 HG02970.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.382+1770A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270916 | |||||||
| chrX:44270977 | A | T | 59 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show |
59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.382+1709T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270977 | |||||||
| chrX:44271769 | C | T | 2 | a0001c0001t0006g0040 a0001c0001t0010g0133 |
2 | HG02155.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.382+917G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44271769 | |||||||
| chrX:44272183 | G | A | 59 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show |
59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.382+503C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272183 | |||||||
| chrX:44272374 | G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.382+312C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272374 | |||||||
| chrX:44272451 | G | C | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382+235C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272451 | |||||||
| chrX:44272547 | G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.382+139C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272547 | |||||||
| chrX:44272940 | A | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0002g0029 others(3): Show |
6 | HG01169.hp1 HG01255.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-104T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44272940 | |||||||
| chrX:44273346 | T | TA | 59 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show |
59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.232-511dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273346 | |||||||
| chrX:44273350 | C | A | 9 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(6): Show |
9 | HG02004.hp2 HG02027.hp1 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-514G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273350 | |||||||
| chrX:44273472 | T | C | 1 | a0001c0001t0001g0151 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.232-636A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273472 | |||||||
| chrX:44273869 | T | C | 1 | a0001c0001t0002g0079 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.232-1033A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273869 | |||||||
| chrX:44273939 | T | G | 1 | a0001c0001t0001g0135 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.232-1103A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273939 | |||||||
| chrX:44273965 | T | C | 1 | a0001c0001t0005g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.232-1129A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273965 | |||||||
| chrX:44273975 | T | C | 1 | a0001c0001t0001g0062 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.232-1139A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273975 | |||||||
| chrX:44274098 | T | C | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.232-1262A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274098 | |||||||
| chrX:44274548 | A | C | 61 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(58): Show |
61 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.232-1712T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274548 | |||||||
| chrX:44274722 | T | C | 1 | a0001c0001t0003g0048 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.232-1886A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274722 | |||||||
| chrX:44274767 | T | G | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.232-1931A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274767 | |||||||
| chrX:44274870 | T | A | 1 | a0001c0001t0001g0216 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.232-2034A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274870 | |||||||
| chrX:44274993 | A | G | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.232-2157T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274993 | |||||||
| chrX:44275110 | CACTGGCA others(14): Show |
C | 1 | a0001c0001t0001g0007 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.232-2295_232-2275d others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275110 | |||||||
| chrX:44275125 | A | G | 4 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0006g0021 others(1): Show |
4 | HG01243.hp1 HG01255.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.232-2289T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275125 | |||||||
| chrX:44275221 | A | C | 2 | a0001c0001t0001g0178 a0001c0001t0001g0186 |
2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.232-2385T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275221 | |||||||
| chrX:44275235 | G | A | 2 | a0002c0008t0004g0052 a0002c0008t0004g0124 |
2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.232-2399C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275235 | |||||||
| chrX:44275434 | G | A | 4 | a0001c0001t0001g0194 a0001c0001t0009g0157 a0001c0001t0009g0180 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-2598C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275434 | |||||||
| chrX:44275633 | G | A | 1 | a0001c0001t0001g0071 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.232-2797C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275633 | |||||||
| chrX:44275669 | T | A | 1 | a0002c0002t0004g0125 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.232-2833A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275669 | |||||||
| chrX:44276294 | G | A | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.232-3458C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276294 | |||||||
| chrX:44276368 | G | T | 2 | a0001c0001t0001g0082 a0001c0001t0004g0102 |
2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.232-3532C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276368 | |||||||
| chrX:44276375 | G | A | 62 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(59): Show |
62 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.232-3539C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276375 | |||||||
| chrX:44276517 | T | A | 1 | a0001c0001t0015g0064 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.232-3681A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276517 | |||||||
| chrX:44277019 | G | A | 48 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0002g0079 others(45): Show |
48 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.232-4183C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277019 | |||||||
| chrX:44277035 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.232-4199C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277035 | |||||||
| chrX:44277153 | G | A | 1 | a0001c0001t0001g0135 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.232-4317C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277153 | |||||||
| chrX:44277258 | C | CA | 29 | a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0129 others(26): Show |
29 | HG00673.hp1 HG01169.hp1 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.232-4423dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277258 | |||||||
| chrX:44277258 | CA | C | 7 | a0001c0001t0001g0010 a0001c0001t0003g0163 a0001c0001t0003g0185 others(4): Show |
7 | HG00738.hp1 HG01515.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.232-4423delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277258 | |||||||
| chrX:44277281 | A | AG | 57 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(54): Show |
57 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(54): Show |
intron_variant | MODIFIER | c.232-4446_232-4445i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277281 | |||||||
| chrX:44277281 | A | G | 4 | a0001c0001t0009g0157 a0001c0001t0009g0180 a0001c0001t0009g0198 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-4445T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277281 | |||||||
| chrX:44278097 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.232-5261C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278097 | |||||||
| chrX:44278295 | A | G | 1 | a0007c0009t0014g0177 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.232-5459T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278295 | |||||||
| chrX:44278366 | A | T | 1 | a0001c0001t0005g0036 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.232-5530T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278366 | |||||||
| chrX:44278384 | A | G | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-5548T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278384 | |||||||
| chrX:44278504 | C | T | 2 | a0001c0001t0001g0113 a0001c0001t0001g0128 |
2 | NA19070.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.232-5668G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278504 | |||||||
| chrX:44278582 | C | T | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.232-5746G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278582 | |||||||
| chrX:44278640 | C | T | 1 | a0001c0001t0012g0017 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.232-5804G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278640 | |||||||
| chrX:44278731 | A | G | 80 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(77): Show |
80 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(77): Show |
intron_variant | MODIFIER | c.232-5895T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278731 | |||||||
| chrX:44279027 | C | A | 1 | a0001c0001t0001g0069 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.232-6191G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279027 | |||||||
| chrX:44279485 | T | C | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-6649A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279485 | |||||||
| chrX:44279710 | C | A | 66 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(63): Show |
66 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.232-6874G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279710 | |||||||
| chrX:44279874 | T | C | 51 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(48): Show |
51 | HG00438.hp2 HG00673.hp1 HG01261.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-7038A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279874 | |||||||
| chrX:44279895 | G | A | 1 | a0001c0001t0001g0065 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.232-7059C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279895 | |||||||
| chrX:44279996 | C | T | 1 | a0001c0001t0003g0136 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.232-7160G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279996 | |||||||
| chrX:44280030 | T | TAC | 7 | a0001c0001t0001g0049 a0001c0001t0001g0084 a0001c0001t0001g0126 others(4): Show |
7 | HG00438.hp2 HG01192.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-7196_232-7195d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACAC | 4 | a0001c0001t0004g0047 a0001c0001t0009g0004 a0001c0001t0009g0006 others(1): Show |
4 | HG02257.hp2 HG02896.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-7198_232-7195d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACAC | 14 | a0001c0001t0001g0005 a0001c0001t0001g0194 a0001c0001t0001g0210 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.232-7200_232-7195d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACACA others(1): Show |
6 | a0001c0001t0001g0200 a0001c0001t0005g0087 a0001c0001t0008g0199 others(3): Show |
6 | HG01358.hp1 HG03098.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-7202_232-7195d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACACA others(3): Show |
12 | a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0100 others(9): Show |
12 | HG01361.hp1 HG01928.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.232-7204_232-7195d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACACA others(5): Show |
28 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(25): Show |
28 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.232-7206_232-7195d others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACACA others(7): Show |
10 | a0001c0001t0001g0101 a0001c0006t0001g0023 a0001c0006t0006g0103 others(7): Show |
10 | HG01496.hp1 HG01952.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.232-7208_232-7195d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACACA others(9): Show |
4 | a0001c0006t0001g0016 a0002c0002t0002g0074 a0006c0007t0002g0024 others(1): Show |
4 | HG01934.hp1 HG02451.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-7210_232-7195d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280030 | T | TACACACA others(11): Show |
1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.232-7212_232-7195d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | |||||||
| chrX:44280132 | A | T | 1 | a0001c0001t0001g0007 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.232-7296T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280132 | |||||||
| chrX:44280272 | G | T | 36 | a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0065 others(33): Show |
36 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(33): Show |
intron_variant | MODIFIER | c.232-7436C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280272 | |||||||
| chrX:44280440 | A | G | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.232-7604T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280440 | |||||||
| chrX:44280593 | G | C | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.232-7757C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280593 | |||||||
| chrX:44281014 | G | A | 1 | a0001c0001t0010g0131 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.232-8178C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281014 | |||||||
| chrX:44281174 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.232-8338G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281174 | |||||||
| chrX:44281199 | C | T | 1 | a0003c0003t0002g0050 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.232-8363G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281199 | |||||||
| chrX:44281210 | G | T | 1 | a0001c0001t0005g0171 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.232-8374C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281210 | |||||||
| chrX:44282146 | T | C | 63 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(60): Show |
63 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.232-9310A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282146 | |||||||
| chrX:44282410 | C | T | 3 | a0001c0001t0001g0200 a0001c0001t0008g0199 a0001c0001t0008g0202 |
3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.232-9574G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282410 | |||||||
| chrX:44282571 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0215 |
2 | HG02129.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.232-9735C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282571 | |||||||
| chrX:44282620 | C | CG | 23 | a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0072 others(20): Show |
23 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(20): Show |
intron_variant | MODIFIER | c.232-9785dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | |||||||
| chrX:44282620 | C | CGG | 18 | a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0065 others(15): Show |
18 | HG00140.hp1 HG00621.hp1 HG01069.hp1 others(15): Show |
intron_variant | MODIFIER | c.232-9786_232-9785d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | |||||||
| chrX:44282620 | C | G | 1 | a0009c0011t0001g0068 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.232-9784G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | |||||||
| chrX:44282624 | G | T | 41 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(38): Show |
41 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.232-9788C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282624 | |||||||
| chrX:44282625 | G | C | 1 | a0002c0002t0007g0187 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.232-9789C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282625 | |||||||
| chrX:44282626 | G | GT | 2 | a0001c0001t0001g0129 a0001c0001t0005g0116 |
2 | HG02027.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.232-9791_232-9790i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282626 | |||||||
| chrX:44282627 | G | GT | 7 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0100 others(4): Show |
7 | HG02451.hp2 HG02615.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-9792_232-9791i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | |||||||
| chrX:44282627 | G | T | 7 | a0001c0001t0001g0062 a0001c0001t0005g0001 a0001c0001t0005g0080 others(4): Show |
7 | HG00438.hp2 HG04228.hp1 NA18940.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-9791C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | |||||||
| chrX:44282627 | GGGGGGGG others(3): Show |
G | 1 | a0001c0001t0005g0087 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.232-9801_232-9792d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | |||||||
| chrX:44282627 | GGGGGGGG others(13): Show |
G | 6 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9792d others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | |||||||
| chrX:44282628 | G | T | 6 | a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0003g0208 others(3): Show |
6 | HG02258.hp1 HG02280.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.232-9792C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282628 | |||||||
| chrX:44282628 | GGGGGGGG others(12): Show |
G | 4 | a0001c0001t0008g0202 a0006c0007t0002g0024 a0006c0007t0002g0025 others(1): Show |
4 | HG02572.hp1 HG02818.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-9811_232-9793d others(21): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282628 | |||||||
| chrX:44282629 | GGGGGGGG others(11): Show |
G | 2 | a0002c0002t0007g0187 a0002c0002t0007g0217 |
2 | HG02165.hp2 NA18939.hp2 |
intron_variant | MODIFIER | c.232-9811_232-9794d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282629 | |||||||
| chrX:44282630 | GGGGGGGT others(10): Show |
G | 6 | a0001c0001t0002g0079 a0001c0001t0006g0075 a0002c0002t0002g0011 others(3): Show |
6 | HG00438.hp1 HG01074.hp1 HG01256.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9795d others(19): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282630 | |||||||
| chrX:44282631 | GGGGGGTG others(9): Show |
G | 15 | a0001c0001t0002g0092 a0001c0001t0002g0098 a0002c0002t0002g0059 others(12): Show |
15 | HG01109.hp1 HG01358.hp1 HG01952.hp1 others(12): Show |
intron_variant | MODIFIER | c.232-9811_232-9796d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282631 | |||||||
| chrX:44282632 | GGGGGTGG others(8): Show |
G | 15 | a0002c0002t0002g0076 a0002c0002t0002g0192 a0002c0002t0004g0191 others(12): Show |
15 | HG01081.hp1 HG01361.hp1 HG01928.hp1 others(12): Show |
intron_variant | MODIFIER | c.232-9811_232-9797d others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282632 | |||||||
| chrX:44282633 | GGGGTGGG others(7): Show |
G | 6 | a0001c0001t0005g0193 a0001c0001t0005g0212 a0002c0002t0002g0074 others(3): Show |
6 | HG01070.hp1 HG01071.hp2 HG01496.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9798d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282633 | |||||||
| chrX:44282635 | G | T | 1 | a0001c0001t0005g0116 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.232-9799C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282635 | |||||||
| chrX:44282636 | G | GGT | 17 | a0001c0001t0001g0082 a0001c0001t0001g0113 a0001c0001t0001g0144 others(14): Show |
17 | HG01071.hp1 HG01099.hp1 HG01168.hp2 others(14): Show |
intron_variant | MODIFIER | c.232-9801_232-9800i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | |||||||
| chrX:44282636 | G | T | 9 | a0001c0001t0001g0005 a0001c0001t0001g0169 a0001c0001t0001g0170 others(6): Show |
9 | HG00438.hp2 HG00741.hp1 HG01168.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-9800C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | |||||||
| chrX:44282636 | GTGGGGGG others(4): Show |
G | 1 | a0001c0001t0001g0009 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.232-9811_232-9801d others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | |||||||
| chrX:44282637 | T | G | 53 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0042 others(50): Show |
53 | HG00438.hp2 HG00738.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.232-9801A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | |||||||
| chrX:44282637 | T | TG | 20 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0066 others(17): Show |
20 | HG01496.hp2 HG02027.hp1 HG02071.hp1 others(17): Show |
intron_variant | MODIFIER | c.232-9802dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | |||||||
| chrX:44282637 | T | TTG | 2 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | HG00642.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.232-9802_232-9801i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | |||||||
| chrX:44282638 | G | T | 1 | a0001c0001t0001g0146 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.232-9802C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282638 | |||||||
| chrX:44282639 | G | T | 1 | a0001c0001t0003g0175 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.232-9803C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282639 | |||||||
| chrX:44282647 | T | G | 13 | a0001c0001t0001g0039 a0001c0001t0001g0099 a0001c0001t0001g0146 others(10): Show |
13 | HG00621.hp1 HG00673.hp1 HG01978.hp2 others(10): Show |
intron_variant | MODIFIER | c.232-9811A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282647 | |||||||
| chrX:44282649 | G | T | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-9813C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282649 | |||||||
| chrX:44282652 | G | C | 1 | a0001c0001t0002g0079 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.232-9816C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282652 | |||||||
| chrX:44282682 | A | T | 1 | a0001c0001t0001g0083 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.232-9846T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282682 | |||||||
| chrX:44282692 | A | C | 5 | a0001c0001t0006g0075 a0004c0004t0002g0020 a0004c0004t0002g0026 others(2): Show |
5 | HG01361.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.232-9856T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282692 | |||||||
| chrX:44282735 | A | G | 1 | a0001c0001t0001g0066 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.232-9899T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282735 | |||||||
| chrX:44282914 | G | T | 1 | a0001c0001t0005g0174 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.232-10078C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282914 | |||||||
| chrX:44282989 | G | C | 3 | a0001c0001t0009g0004 a0001c0001t0009g0006 a0001c0001t0016g0220 |
3 | HG02257.hp2 HG02896.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.232-10153C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282989 | |||||||
| chrX:44283223 | C | G | 1 | a0001c0001t0010g0131 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.232-10387G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283223 | |||||||
| chrX:44283310 | G | C | 1 | a0001c0001t0005g0036 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.232-10474C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283310 | |||||||
| chrX:44283404 | T | G | 2 | a0001c0001t0001g0082 a0001c0001t0004g0102 |
2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.232-10568A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283404 | |||||||
| chrX:44283477 | C | T | 4 | a0001c0001t0001g0210 a0001c0001t0002g0029 a0001c0001t0003g0030 others(1): Show |
4 | HG01169.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-10641G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283477 | |||||||
| chrX:44283484 | T | TCGGAAGC others(12): Show |
1 | a0001c0001t0001g0049 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.232-10667_232-1064 others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283484 | |||||||
| chrX:44283532 | C | CT | 24 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(21): Show |
24 | HG01106.hp1 HG01361.hp2 HG01515.hp1 others(21): Show |
intron_variant | MODIFIER | c.232-10697dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | |||||||
| chrX:44283532 | C | CTTTT | 10 | a0001c0001t0001g0009 a0001c0001t0001g0200 a0001c0001t0008g0199 others(7): Show |
10 | HG01256.hp1 HG01361.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.232-10700_232-1069 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | |||||||
| chrX:44283532 | C | CTTTTT | 39 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0194 others(36): Show |
39 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.232-10701_232-1069 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | |||||||
| chrX:44283532 | C | CTTTTTT | 16 | a0001c0001t0002g0092 a0001c0001t0005g0087 a0001c0001t0005g0193 others(13): Show |
16 | HG01074.hp1 HG01109.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.232-10702_232-1069 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | |||||||
| chrX:44283532 | CTTT | C | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-10699_232-1069 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | |||||||
| chrX:44283675 | C | CT | 45 | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0062 others(42): Show |
45 | HG00438.hp1 HG01071.hp2 HG01074.hp1 others(42): Show |
intron_variant | MODIFIER | c.232-10840dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | |||||||
| chrX:44283675 | C | CTT | 14 | a0001c0001t0001g0009 a0001c0001t0001g0194 a0001c0001t0001g0200 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01358.hp1 others(11): Show |
intron_variant | MODIFIER | c.232-10841_232-1084 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | |||||||
| chrX:44283675 | C | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-10839G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | |||||||
| chrX:44283675 | CT | C | 7 | a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0002g0197 others(4): Show |
7 | HG00741.hp1 HG01515.hp1 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.232-10840delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | |||||||
| chrX:44283675 | CTTT | C | 9 | a0001c0001t0001g0005 a0001c0001t0001g0210 a0001c0001t0002g0029 others(6): Show |
9 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-10842_232-1084 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | |||||||
| chrX:44283752 | C | T | 1 | a0006c0007t0002g0024 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.232-10916G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283752 | |||||||
| chrX:44284173 | C | T | 3 | a0001c0001t0001g0200 a0001c0001t0008g0199 a0001c0001t0008g0202 |
3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.232-11337G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284173 | |||||||
| chrX:44284611 | A | G | 3 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 |
3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.232-11775T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284611 | |||||||
| chrX:44284697 | C | A | 15 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(12): Show |
15 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.232-11861G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284697 | |||||||
| chrX:44284869 | A | G | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-12033T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284869 | |||||||
| chrX:44284874 | A | G | 67 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(64): Show |
67 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.232-12038T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284874 | |||||||
| chrX:44284959 | G | A | 1 | a0001c0001t0001g0045 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.232-12123C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284959 | |||||||
| chrX:44285096 | A | G | 1 | a0001c0001t0001g0009 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.232-12260T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285096 | |||||||
| chrX:44285240 | T | C | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-12404A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285240 | |||||||
| chrX:44285288 | G | A | 1 | a0001c0001t0001g0014 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.232-12452C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285288 | |||||||
| chrX:44285340 | G | A | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.232-12504C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285340 | |||||||
| chrX:44286565 | T | G | 1 | a0001c0001t0003g0145 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.232-13729A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44286565 | |||||||
| chrX:44286986 | A | G | 1 | a0001c0006t0001g0016 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.232-14150T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44286986 | |||||||
| chrX:44287026 | T | TA | 42 | a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0001g0072 others(39): Show |
42 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.232-14191dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | |||||||
| chrX:44287026 | T | TAA | 26 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0194 others(23): Show |
26 | HG01070.hp2 HG01074.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.232-14192_232-1419 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | |||||||
| chrX:44287026 | T | TAAA | 11 | a0001c0001t0002g0098 a0001c0001t0009g0180 a0002c0002t0002g0074 others(8): Show |
11 | HG00741.hp2 HG01081.hp1 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.232-14193_232-1419 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | |||||||
| chrX:44287026 | TA | T | 20 | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(17): Show |
20 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(17): Show |
intron_variant | MODIFIER | c.232-14191delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | |||||||
| chrX:44287039 | A | AG | 6 | a0001c0001t0004g0063 a0001c0001t0004g0090 a0001c0001t0004g0132 others(3): Show |
6 | HG01261.hp1 HG01361.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.232-14204_232-1420 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287039 | |||||||
| chrX:44287065 | G | A | 67 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(64): Show |
67 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.232-14229C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287065 | |||||||
| chrX:44287197 | A | T | 2 | a0002c0008t0004g0052 a0002c0008t0004g0124 |
2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.232-14361T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287197 | |||||||
| chrX:44287869 | T | C | 4 | a0001c0001t0005g0087 a0001c0001t0005g0193 a0001c0001t0005g0212 others(1): Show |
4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-15033A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287869 | |||||||
| chrX:44288349 | C | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-15513G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44288349 | |||||||
| chrX:44288466 | C | T | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-15630G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44288466 | |||||||
| chrX:44288561 | A | G | 1 | a0001c0001t0001g0069 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.232-15725T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44288561 | |||||||
| chrX:44289002 | A | G | 51 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0002g0079 others(48): Show |
51 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-16166T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289002 | |||||||
| chrX:44289056 | A | G | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-16220T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289056 | |||||||
| chrX:44289478 | C | T | 51 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0002g0079 others(48): Show |
51 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-16642G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289478 | |||||||
| chrX:44289578 | T | C | 1 | a0001c0001t0001g0113 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.232-16742A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289578 | |||||||
| chrX:44289673 | CTTTCT | C | 7 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-16842_232-1683 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289673 | |||||||
| chrX:44289677 | C | CT | 34 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0065 others(31): Show |
34 | HG00673.hp1 HG01106.hp1 HG01261.hp1 others(31): Show |
intron_variant | MODIFIER | c.232-16842dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | |||||||
| chrX:44289677 | C | CTT | 5 | a0001c0001t0003g0153 a0001c0001t0004g0047 a0001c0001t0004g0105 others(2): Show |
5 | HG01496.hp2 HG02083.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.232-16843_232-1684 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | |||||||
| chrX:44289677 | CT | C | 38 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0100 others(35): Show |
38 | HG01069.hp1 HG01070.hp1 HG01074.hp1 others(35): Show |
intron_variant | MODIFIER | c.232-16842delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | |||||||
| chrX:44289677 | CTT | C | 6 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show |
6 | HG02258.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-16843_232-1684 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | |||||||
| chrX:44290325 | A | G | 1 | a0003c0003t0002g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.232-17489T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290325 | |||||||
| chrX:44290403 | C | T | 62 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(59): Show |
62 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.232-17567G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290403 | |||||||
| chrX:44290404 | T | G | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.232-17568A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290404 | |||||||
| chrX:44290410 | T | C | 51 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0002g0079 others(48): Show |
51 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-17574A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290410 | |||||||
| chrX:44290490 | A | G | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-17654T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290490 | |||||||
| chrX:44290598 | C | T | 3 | a0001c0001t0001g0009 a0001c0001t0008g0032 a0001c0001t0008g0038 |
3 | HG02055.hp1 HG02717.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.232-17762G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290598 | |||||||
| chrX:44290659 | G | A | 66 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(63): Show |
66 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.232-17823C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290659 | |||||||
| chrX:44290870 | T | C | 67 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(64): Show |
67 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.232-18034A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290870 | |||||||
| chrX:44291014 | A | G | 1 | a0001c0001t0004g0176 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.232-18178T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44291014 | |||||||
| chrX:44291507 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.232-18671C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44291507 | |||||||
| chrX:44291905 | C | T | 1 | a0004c0004t0001g0019 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.232-19069G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44291905 | |||||||
| chrX:44292209 | T | TAC | 10 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(7): Show |
10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.232-19375_232-1937 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292209 | |||||||
| chrX:44292381 | A | G | 1 | a0001c0001t0004g0102 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.232-19545T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292381 | |||||||
| chrX:44292406 | T | A | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.232-19570A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292406 | |||||||
| chrX:44292469 | A | G | 3 | a0001c0001t0001g0049 a0001c0001t0001g0120 a0001c0001t0001g0205 |
3 | NA18948.hp1 NA18965.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.232-19633T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292469 | |||||||
| chrX:44292593 | C | T | 52 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(49): Show |
52 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.232-19757G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292593 | |||||||
| chrX:44292822 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG00140.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.231+19746G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292822 | |||||||
| chrX:44292975 | CTT | C | 61 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(58): Show |
61 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.231+19591_231+1959 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292975 | |||||||
| chrX:44293009 | C | G | 2 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | HG00642.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.231+19559G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293009 | |||||||
| chrX:44293316 | T | C | 7 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+19252A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293316 | |||||||
| chrX:44293535 | ATTTCT | A | 10 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.231+19028_231+1903 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293535 | |||||||
| chrX:44293623 | G | A | 1 | a0001c0001t0001g0014 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.231+18945C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293623 | |||||||
| chrX:44293948 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+18620G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293948 | |||||||
| chrX:44294117 | CTTGGGAT others(5): Show |
C | 1 | a0001c0001t0009g0004 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+18439_231+1845 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294117 | |||||||
| chrX:44294249 | C | CGT | 28 | a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0001g0086 others(25): Show |
28 | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.231+18317_231+1831 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | C | CGTGT | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0083 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.231+18315_231+1831 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | C | CGTGTGT | 2 | a0001c0001t0001g0039 a0005c0005t0001g0141 |
2 | NA19004.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.231+18313_231+1831 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGT | C | 37 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0045 others(34): Show |
37 | HG00438.hp2 HG01081.hp2 HG01106.hp1 others(34): Show |
intron_variant | MODIFIER | c.231+18317_231+1831 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGT | C | 7 | a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0178 others(4): Show |
7 | HG00280.hp1 HG00738.hp1 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+18315_231+1831 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGT | C | 11 | a0001c0001t0001g0084 a0001c0001t0002g0078 a0001c0001t0002g0104 others(8): Show |
11 | HG00741.hp2 HG01070.hp2 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.231+18313_231+1831 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(1): Show |
C | 7 | a0001c0001t0001g0210 a0001c0001t0002g0029 a0001c0001t0003g0165 others(4): Show |
7 | HG00741.hp1 HG02572.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+18311_231+1831 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(3): Show |
C | 7 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0042 others(4): Show |
7 | HG02717.hp1 HG02976.hp1 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+18309_231+1831 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(5): Show |
C | 14 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(11): Show |
14 | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.231+18307_231+1831 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(7): Show |
C | 1 | a0002c0002t0007g0187 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.231+18305_231+1831 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(9): Show |
C | 49 | a0001c0001t0001g0100 a0001c0001t0002g0079 a0001c0001t0002g0092 others(46): Show |
49 | HG00438.hp1 HG00673.hp1 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.231+18303_231+1831 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(11): Show |
C | 1 | a0003c0003t0002g0058 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.231+18301_231+1831 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294249 | CGTGTGTG others(13): Show |
C | 2 | a0001c0001t0003g0208 a0001c0001t0005g0147 |
2 | NA18969.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.231+18299_231+1831 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | |||||||
| chrX:44294833 | G | C | 17 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(14): Show |
17 | HG01169.hp1 HG01243.hp1 HG02615.hp1 others(14): Show |
intron_variant | MODIFIER | c.231+17735C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294833 | |||||||
| chrX:44295324 | C | T | 1 | a0001c0001t0003g0139 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.231+17244G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295324 | |||||||
| chrX:44295359 | G | A | 1 | a0001c0001t0003g0145 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.231+17209C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295359 | |||||||
| chrX:44295569 | T | C | 10 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(7): Show |
10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.231+16999A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295569 | |||||||
| chrX:44295625 | G | A | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.231+16943C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295625 | |||||||
| chrX:44296002 | C | G | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.231+16566G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296002 | |||||||
| chrX:44296324 | C | A | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+16244G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296324 | |||||||
| chrX:44296324 | C | T | 63 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(60): Show |
63 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.231+16244G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296324 | |||||||
| chrX:44296493 | A | AG | 7 | a0001c0001t0001g0007 a0001c0001t0001g0158 a0001c0001t0004g0140 others(4): Show |
7 | HG01106.hp1 HG01496.hp2 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+16074dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296493 | |||||||
| chrX:44296856 | T | C | 1 | a0001c0001t0001g0146 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.231+15712A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296856 | |||||||
| chrX:44297196 | A | G | 4 | a0001c0001t0001g0005 a0001c0001t0009g0004 a0001c0001t0009g0006 others(1): Show |
4 | HG01255.hp1 HG02257.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+15372T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297196 | |||||||
| chrX:44297230 | A | C | 1 | a0001c0001t0004g0132 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.231+15338T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297230 | |||||||
| chrX:44297688 | C | T | 3 | a0001c0001t0001g0005 a0001c0001t0009g0004 a0001c0001t0009g0006 |
3 | HG01255.hp1 HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.231+14880G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297688 | |||||||
| chrX:44297728 | C | CA | 16 | a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0001g0091 others(13): Show |
16 | HG01261.hp1 HG02027.hp1 HG02135.hp1 others(13): Show |
intron_variant | MODIFIER | c.231+14839dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297728 | |||||||
| chrX:44297728 | CA | C | 55 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(52): Show |
55 | HG00438.hp1 HG00558.hp2 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.231+14839delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297728 | |||||||
| chrX:44297759 | A | T | 13 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0005g0087 others(10): Show |
13 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.231+14809T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297759 | |||||||
| chrX:44297911 | G | A | 9 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(6): Show |
9 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.231+14657C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297911 | |||||||
| chrX:44297987 | A | T | 2 | a0001c0001t0002g0078 a0001c0001t0002g0104 |
2 | HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.231+14581T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297987 | |||||||
| chrX:44298445 | G | T | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.231+14123C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298445 | |||||||
| chrX:44298615 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.231+13953G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298615 | |||||||
| chrX:44298715 | G | T | 2 | a0001c0001t0001g0178 a0001c0001t0001g0186 |
2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.231+13853C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298715 | |||||||
| chrX:44298860 | C | CA | 8 | a0001c0001t0001g0091 a0001c0001t0001g0129 a0001c0001t0001g0186 others(5): Show |
8 | HG01361.hp2 HG02027.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.231+13707dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | |||||||
| chrX:44298860 | CA | C | 43 | a0001c0001t0001g0152 a0001c0001t0001g0200 a0001c0001t0001g0215 others(40): Show |
43 | HG00741.hp1 HG00741.hp2 HG01070.hp2 others(40): Show |
intron_variant | MODIFIER | c.231+13707delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | |||||||
| chrX:44298860 | CAA | C | 19 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(16): Show |
19 | HG01070.hp1 HG01255.hp1 HG01496.hp2 others(16): Show |
intron_variant | MODIFIER | c.231+13706_231+1370 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | |||||||
| chrX:44298860 | CAAA | C | 15 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(12): Show |
15 | HG02615.hp1 HG02717.hp1 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.231+13705_231+1370 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | |||||||
| chrX:44298907 | A | G | 3 | a0001c0001t0005g0087 a0001c0001t0005g0212 a0009c0011t0001g0068 |
3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+13661T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298907 | |||||||
| chrX:44299057 | C | T | 59 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(56): Show |
59 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(56): Show |
intron_variant | MODIFIER | c.231+13511G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299057 | |||||||
| chrX:44299136 | A | T | 1 | a0001c0001t0003g0121 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.231+13432T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299136 | |||||||
| chrX:44299200 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.231+13368G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299200 | |||||||
| chrX:44299275 | T | A | 2 | a0001c0001t0001g0082 a0001c0001t0004g0102 |
2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.231+13293A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299275 | |||||||
| chrX:44299537 | C | T | 3 | a0001c0001t0001g0005 a0001c0001t0009g0004 a0001c0001t0009g0006 |
3 | HG01255.hp1 HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.231+13031G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299537 | |||||||
| chrX:44299643 | C | A | 56 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(53): Show |
56 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(53): Show |
intron_variant | MODIFIER | c.231+12925G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299643 | |||||||
| chrX:44299827 | G | A | 1 | a0009c0011t0001g0068 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.231+12741C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299827 | |||||||
| chrX:44299939 | A | G | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.231+12629T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299939 | |||||||
| chrX:44299954 | A | T | 5 | a0001c0001t0001g0065 a0002c0002t0007g0154 a0002c0002t0007g0187 others(2): Show |
5 | HG00438.hp1 HG01256.hp1 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.231+12614T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299954 | |||||||
| chrX:44299955 | T | C | 4 | a0001c0001t0001g0194 a0001c0001t0009g0157 a0001c0001t0009g0180 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+12613A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299955 | |||||||
| chrX:44300127 | C | CA | 61 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(58): Show |
61 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(58): Show |
intron_variant | MODIFIER | c.231+12440_231+1244 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300127 | |||||||
| chrX:44300570 | T | G | 1 | a0001c0001t0003g0085 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.231+11998A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300570 | |||||||
| chrX:44300844 | C | A | 1 | a0001c0001t0001g0100 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.231+11724G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300844 | |||||||
| chrX:44300906 | C | T | 3 | a0001c0001t0008g0032 a0001c0001t0013g0031 a0001c0001t0013g0033 |
3 | HG02717.hp1 HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.231+11662G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300906 | |||||||
| chrX:44300971 | G | A | 40 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.231+11597C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300971 | |||||||
| chrX:44301058 | C | T | 21 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(18): Show |
21 | HG01169.hp1 HG01361.hp1 HG02615.hp1 others(18): Show |
intron_variant | MODIFIER | c.231+11510G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301058 | |||||||
| chrX:44301093 | G | C | 3 | a0001c0001t0005g0087 a0001c0001t0005g0212 a0009c0011t0001g0068 |
3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+11475C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301093 | |||||||
| chrX:44301109 | C | CA | 14 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0073 others(11): Show |
14 | HG01169.hp2 HG01361.hp1 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.231+11458dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301109 | |||||||
| chrX:44302186 | G | A | 20 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(17): Show |
20 | HG01169.hp1 HG01361.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.231+10382C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302186 | |||||||
| chrX:44302229 | A | G | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+10339T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302229 | |||||||
| chrX:44302275 | GA | G | 3 | a0001c0001t0001g0200 a0001c0001t0008g0199 a0001c0001t0008g0202 |
3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.231+10292delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302275 | |||||||
| chrX:44302283 | C | T | 3 | a0001c0001t0001g0200 a0001c0001t0008g0199 a0001c0001t0008g0202 |
3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.231+10285G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302283 | |||||||
| chrX:44302481 | T | C | 2 | a0001c0001t0001g0035 a0001c0001t0008g0034 |
2 | HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.231+10087A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302481 | |||||||
| chrX:44302797 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.231+9771A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302797 | |||||||
| chrX:44302846 | T | C | 9 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(6): Show |
9 | HG00741.hp1 HG01358.hp1 HG02074.hp1 others(6): Show |
intron_variant | MODIFIER | c.231+9722A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302846 | |||||||
| chrX:44303031 | A | C | 21 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(18): Show |
21 | HG01169.hp1 HG01361.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.231+9537T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303031 | |||||||
| chrX:44303038 | C | T | 75 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(72): Show |
75 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(72): Show |
intron_variant | MODIFIER | c.231+9530G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303038 | |||||||
| chrX:44303310 | C | T | 1 | a0001c0001t0001g0166 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.231+9258G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303310 | |||||||
| chrX:44303794 | A | C | 1 | a0001c0001t0015g0064 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.231+8774T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303794 | |||||||
| chrX:44303822 | G | T | 1 | a0001c0001t0008g0038 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.231+8746C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303822 | |||||||
| chrX:44303830 | C | T | 41 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.231+8738G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303830 | |||||||
| chrX:44303938 | T | C | 1 | a0001c0001t0008g0032 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.231+8630A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303938 | |||||||
| chrX:44304179 | T | G | 4 | a0002c0002t0004g0125 a0002c0002t0004g0207 a0002c0008t0004g0052 others(1): Show |
4 | HG02074.hp1 NA18943.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+8389A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304179 | |||||||
| chrX:44304196 | TAG | T | 41 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.231+8370_231+8371d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304196 | |||||||
| chrX:44304209 | G | A | 1 | a0001c0001t0004g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.231+8359C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304209 | |||||||
| chrX:44304522 | C | T | 41 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(38): Show |
41 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.231+8046G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304522 | |||||||
| chrX:44304769 | G | A | 1 | a0001c0001t0003g0185 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.231+7799C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304769 | |||||||
| chrX:44304995 | C | T | 38 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(35): Show |
38 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.231+7573G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304995 | |||||||
| chrX:44305030 | G | A | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.231+7538C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305030 | |||||||
| chrX:44305194 | G | A | 38 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(35): Show |
38 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.231+7374C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305194 | |||||||
| chrX:44305248 | C | T | 1 | a0001c0001t0008g0038 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.231+7320G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305248 | |||||||
| chrX:44305271 | T | A | 26 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(23): Show |
26 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.231+7297A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305271 | |||||||
| chrX:44305474 | A | AT | 5 | a0001c0001t0001g0101 a0001c0001t0001g0210 a0001c0001t0002g0029 others(2): Show |
5 | HG01169.hp1 HG02615.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.231+7093dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305474 | |||||||
| chrX:44305559 | T | G | 42 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(39): Show |
42 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.231+7009A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305559 | |||||||
| chrX:44305597 | A | C | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.231+6971T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305597 | |||||||
| chrX:44305628 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.231+6940C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305628 | |||||||
| chrX:44305916 | G | A | 1 | a0001c0001t0001g0146 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.231+6652C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305916 | |||||||
| chrX:44305946 | C | T | 3 | a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 |
3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.231+6622G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305946 | |||||||
| chrX:44306024 | G | A | 3 | a0001c0001t0005g0087 a0001c0001t0005g0212 a0009c0011t0001g0068 |
3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+6544C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306024 | |||||||
| chrX:44306064 | T | C | 40 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.231+6504A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306064 | |||||||
| chrX:44306366 | T | C | 40 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(37): Show |
40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.231+6202A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306366 | |||||||
| chrX:44306626 | G | A | 10 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(7): Show |
10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.231+5942C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306626 | |||||||
| chrX:44306845 | G | A | 1 | a0001c0001t0001g0108 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.231+5723C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306845 | |||||||
| chrX:44307171 | G | A | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.231+5397C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307171 | |||||||
| chrX:44307326 | A | G | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+5242T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307326 | |||||||
| chrX:44307408 | C | A | 3 | a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 |
3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.231+5160G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307408 | |||||||
| chrX:44307648 | G | A | 1 | a0001c0001t0005g0171 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.231+4920C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307648 | |||||||
| chrX:44307680 | T | C | 10 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(7): Show |
10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.231+4888A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307680 | |||||||
| chrX:44307750 | A | G | 2 | a0001c0001t0001g0071 a0001c0001t0010g0070 |
2 | HG02280.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.231+4818T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307750 | |||||||
| chrX:44307804 | C | T | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.231+4764G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307804 | |||||||
| chrX:44307933 | C | CA | 9 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0005g0087 others(6): Show |
9 | HG01255.hp1 HG02257.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.231+4634dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307933 | |||||||
| chrX:44307933 | C | G | 1 | a0002c0002t0002g0201 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.231+4635G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307933 | |||||||
| chrX:44307933 | CA | C | 69 | a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0089 others(66): Show |
69 | HG00140.hp1 HG00558.hp1 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.231+4634delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307933 | |||||||
| chrX:44307948 | A | T | 8 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(5): Show |
8 | HG01358.hp1 HG02074.hp1 HG02698.hp1 others(5): Show |
intron_variant | MODIFIER | c.231+4620T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307948 | |||||||
| chrX:44308535 | C | T | 74 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(71): Show |
74 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(71): Show |
intron_variant | MODIFIER | c.231+4033G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44308535 | |||||||
| chrX:44309153 | A | C | 1 | a0001c0001t0006g0075 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.231+3415T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309153 | |||||||
| chrX:44309247 | T | C | 53 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(50): Show |
53 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.231+3321A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309247 | |||||||
| chrX:44309275 | G | GA | 75 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(72): Show |
75 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(72): Show |
intron_variant | MODIFIER | c.231+3292dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309275 | |||||||
| chrX:44309382 | C | T | 1 | a0002c0002t0002g0059 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.231+3186G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309382 | |||||||
| chrX:44309464 | T | C | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.231+3104A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309464 | |||||||
| chrX:44309684 | T | A | 53 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(50): Show |
53 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.231+2884A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309684 | |||||||
| chrX:44309891 | G | C | 2 | a0001c0001t0002g0078 a0001c0001t0002g0104 |
2 | HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.231+2677C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309891 | |||||||
| chrX:44309895 | T | G | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+2673A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309895 | |||||||
| chrX:44309979 | C | T | 1 | a0001c0001t0004g0176 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.231+2589G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309979 | |||||||
| chrX:44310057 | T | C | 74 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(71): Show |
74 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(71): Show |
intron_variant | MODIFIER | c.231+2511A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310057 | |||||||
| chrX:44310247 | A | AGGGTTTC others(16): Show |
50 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(47): Show |
50 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(47): Show |
intron_variant | MODIFIER | c.231+2298_231+2320d others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310247 | |||||||
| chrX:44310327 | C | G | 1 | a0001c0001t0001g0159 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.231+2241G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310327 | |||||||
| chrX:44310464 | G | A | 1 | a0004c0004t0002g0027 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.231+2104C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310464 | |||||||
| chrX:44310584 | T | C | 1 | a0001c0001t0006g0021 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.231+1984A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310584 | |||||||
| chrX:44311289 | C | CA | 7 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0006g0002 others(4): Show |
7 | HG02280.hp2 HG02451.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+1278dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311289 | |||||||
| chrX:44311652 | A | T | 1 | a0001c0001t0001g0135 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.231+916T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311652 | |||||||
| chrX:44311858 | CACAT | C | 49 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(46): Show |
49 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.231+706_231+709del others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311858 | |||||||
| chrX:44311866 | G | A | 49 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(46): Show |
49 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.231+702C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311866 | |||||||
| chrX:44312062 | G | A | 49 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(46): Show |
49 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.231+506C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312062 | |||||||
| chrX:44312076 | T | A | 12 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
12 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.231+492A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312076 | |||||||
| chrX:44312119 | C | T | 27 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(24): Show |
27 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.231+449G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312119 | |||||||
| chrX:44312145 | C | T | 22 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(19): Show |
22 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(19): Show |
intron_variant | MODIFIER | c.231+423G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312145 | |||||||
| chrX:44312322 | T | C | 52 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(49): Show |
52 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(49): Show |
intron_variant | MODIFIER | c.231+246A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312322 | |||||||
| chrX:44313060 | G | A | 1 | a0001c0001t0001g0113 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.43-304C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313060 | |||||||
| chrX:44313095 | C | CA | 16 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(13): Show |
16 | HG01169.hp1 HG01361.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.43-340dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313095 | |||||||
| chrX:44313109 | A | AAG | 51 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-354_43-353insCT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313109 | |||||||
| chrX:44313318 | G | A | 10 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0008g0199 others(7): Show |
10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.43-562C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313318 | |||||||
| chrX:44313650 | C | T | 51 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-894G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313650 | |||||||
| chrX:44313787 | C | G | 23 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0035 others(20): Show |
23 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(20): Show |
intron_variant | MODIFIER | c.43-1031G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313787 | |||||||
| chrX:44313828 | A | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.43-1072T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313828 | |||||||
| chrX:44314040 | G | A | 21 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(18): Show |
21 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.43-1284C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314040 | |||||||
| chrX:44314068 | G | A | 2 | a0002c0008t0004g0052 a0002c0008t0004g0124 |
2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.43-1312C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314068 | |||||||
| chrX:44314302 | G | A | 2 | a0002c0002t0002g0011 a0002c0002t0002g0093 |
2 | HG01074.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.43-1546C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314302 | |||||||
| chrX:44314575 | T | C | 51 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-1819A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314575 | |||||||
| chrX:44314856 | A | T | 27 | a0001c0001t0001g0009 a0001c0001t0002g0079 a0001c0001t0002g0092 others(24): Show |
27 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.43-2100T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314856 | |||||||
| chrX:44314917 | G | A | 5 | a0001c0001t0003g0112 a0001c0001t0003g0134 a0001c0001t0003g0173 others(2): Show |
5 | NA18955.hp1 NA18967.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.43-2161C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314917 | |||||||
| chrX:44315080 | A | C | 4 | a0001c0001t0001g0069 a0001c0001t0005g0087 a0001c0001t0005g0212 others(1): Show |
4 | HG02155.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.43-2324T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315080 | |||||||
| chrX:44315265 | T | C | 51 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-2509A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315265 | |||||||
| chrX:44315408 | G | A | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.43-2652C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315408 | |||||||
| chrX:44315416 | T | A | 1 | a0005c0005t0001g0053 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-2660A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315416 | |||||||
| chrX:44315595 | A | G | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.43-2839T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315595 | |||||||
| chrX:44315771 | G | T | 1 | a0002c0002t0002g0059 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.43-3015C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315771 | |||||||
| chrX:44315786 | C | G | 51 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-3030G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315786 | |||||||
| chrX:44316125 | G | T | 1 | a0001c0001t0004g0088 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.43-3369C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316125 | |||||||
| chrX:44316143 | T | C | 1 | a0001c0001t0004g0176 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.43-3387A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316143 | |||||||
| chrX:44316418 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.43-3662C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316418 | |||||||
| chrX:44316483 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.43-3727G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316483 | |||||||
| chrX:44316596 | T | TA | 52 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(49): Show |
52 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(49): Show |
intron_variant | MODIFIER | c.43-3841dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316596 | |||||||
| chrX:44316689 | T | TA | 25 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0096 others(22): Show |
25 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(22): Show |
intron_variant | MODIFIER | c.43-3934dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316689 | |||||||
| chrX:44316885 | AAGACCGT others(30): Show |
A | 1 | a0001c0001t0001g0069 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.43-4166_43-4130del others(37): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316885 | |||||||
| chrX:44316928 | G | A | 1 | a0001c0001t0001g0014 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.43-4172C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316928 | |||||||
| chrX:44317019 | C | T | 1 | a0001c0006t0001g0022 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.43-4263G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317019 | |||||||
| chrX:44317085 | G | A | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.43-4329C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317085 | |||||||
| chrX:44317439 | C | A | 1 | a0001c0001t0003g0163 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.43-4683G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317439 | |||||||
| chrX:44317679 | G | A | 1 | a0001c0001t0004g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.43-4923C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317679 | |||||||
| chrX:44317935 | C | G | 51 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-5179G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317935 | |||||||
| chrX:44317986 | A | G | 55 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(52): Show |
55 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.43-5230T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317986 | |||||||
| chrX:44318546 | C | G | 31 | a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0065 others(28): Show |
31 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(28): Show |
intron_variant | MODIFIER | c.43-5790G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44318546 | |||||||
| chrX:44318622 | A | G | 1 | a0001c0001t0005g0193 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.43-5866T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44318622 | |||||||
| chrX:44318667 | T | G | 51 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(48): Show |
51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-5911A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44318667 | |||||||
| chrX:44319002 | C | CT | 46 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(43): Show |
46 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(43): Show |
intron_variant | MODIFIER | c.43-6247dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319002 | |||||||
| chrX:44319051 | C | T | 4 | a0001c0001t0001g0069 a0001c0001t0005g0087 a0001c0001t0005g0212 others(1): Show |
4 | HG02155.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.43-6295G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319051 | |||||||
| chrX:44319064 | C | T | 2 | a0002c0008t0004g0052 a0002c0008t0004g0124 |
2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.43-6308G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319064 | |||||||
| chrX:44319123 | C | A | 1 | a0001c0001t0004g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.43-6367G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319123 | |||||||
| chrX:44319160 | C | T | 26 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(23): Show |
26 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.43-6404G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319160 | |||||||
| chrX:44319199 | C | T | 11 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.43-6443G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319199 | |||||||
| chrX:44319298 | G | A | 4 | a0001c0001t0001g0069 a0001c0001t0005g0087 a0001c0001t0005g0212 others(1): Show |
4 | HG02155.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.43-6542C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319298 | |||||||
| chrX:44319414 | G | C | 1 | a0003c0003t0002g0106 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.43-6658C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319414 | |||||||
| chrX:44319427 | C | T | 2 | a0001c0001t0001g0035 a0001c0001t0008g0034 |
2 | HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.43-6671G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319427 | |||||||
| chrX:44319442 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.43-6686G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319442 | |||||||
| chrX:44319619 | T | G | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.43-6863A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319619 | |||||||
| chrX:44320011 | C | T | 76 | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0083 others(73): Show |
76 | HG00140.hp1 HG00558.hp1 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.43-7255G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320011 | |||||||
| chrX:44320020 | G | A | 3 | a0004c0004t0002g0020 a0004c0004t0002g0026 a0004c0004t0002g0027 |
3 | HG02809.hp1 HG03041.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.43-7264C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320020 | |||||||
| chrX:44320025 | C | G | 1 | a0001c0001t0004g0102 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.43-7269G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320025 | |||||||
| chrX:44320163 | G | A | 3 | a0001c0001t0001g0200 a0001c0001t0008g0199 a0001c0001t0008g0202 |
3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.43-7407C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320163 | |||||||
| chrX:44320292 | C | T | 1 | a0001c0001t0003g0121 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.43-7536G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320292 | |||||||
| chrX:44320326 | C | G | 26 | a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0098 others(23): Show |
26 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.43-7570G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320326 | |||||||
| chrX:44320486 | G | A | 1 | a0001c0001t0007g0111 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.43-7730C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320486 | |||||||
| chrX:44320555 | C | T | 3 | a0001c0001t0001g0082 a0001c0001t0004g0102 a0001c0001t0008g0032 |
3 | HG02630.hp1 HG02717.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.43-7799G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320555 | |||||||
| chrX:44320759 | C | T | 1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.43-8003G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320759 | |||||||
| chrX:44320841 | G | C | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.43-8085C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320841 | |||||||
| chrX:44321016 | A | G | 1 | a0001c0001t0005g0080 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.43-8260T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44321016 | |||||||
| chrX:44321405 | G | A | 62 | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0035 others(59): Show |
62 | HG00140.hp1 HG00609.hp1 HG00741.hp2 others(59): Show |
intron_variant | MODIFIER | c.43-8649C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44321405 | |||||||
| chrX:44322134 | A | G | 1 | a0002c0002t0007g0217 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.43-9378T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322134 | |||||||
| chrX:44322283 | C | T | 142 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(139): Show |
142 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(139): Show |
intron_variant | MODIFIER | c.43-9527G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322283 | |||||||
| chrX:44322361 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.43-9605C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322361 | |||||||
| chrX:44322404 | A | G | 12 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(9): Show |
12 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.43-9648T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322404 | |||||||
| chrX:44322459 | C | A | 1 | a0001c0001t0001g0200 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.43-9703G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322459 | |||||||
| chrX:44322596 | G | C | 5 | a0001c0001t0001g0086 a0001c0001t0001g0181 a0001c0001t0005g0080 others(2): Show |
5 | HG00438.hp2 HG03942.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.43-9840C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322596 | |||||||
| chrX:44322686 | T | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.43-9930A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322686 | |||||||
| chrX:44322864 | T | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.43-10108A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322864 | |||||||
| chrX:44322868 | C | A | 1 | a0001c0001t0001g0082 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.43-10112G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322868 | |||||||
| chrX:44322893 | A | G | 144 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.43-10137T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322893 | |||||||
| chrX:44323005 | T | G | 1 | a0001c0001t0001g0210 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.43-10249A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323005 | |||||||
| chrX:44323007 | C | T | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.43-10251G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323007 | |||||||
| chrX:44323008 | G | A | 2 | a0001c0001t0001g0110 a0001c0001t0006g0040 |
2 | NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.43-10252C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323008 | |||||||
| chrX:44323120 | A | G | 143 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(140): Show |
143 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.43-10364T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323120 | |||||||
| chrX:44323412 | A | G | 1 | a0001c0001t0011g0046 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.43-10656T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323412 | |||||||
| chrX:44323605 | TC | T | 137 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(134): Show |
137 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(134): Show |
intron_variant | MODIFIER | c.43-10850delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323605 | |||||||
| chrX:44323655 | G | A | 2 | a0006c0007t0002g0024 a0006c0007t0002g0025 |
2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.43-10899C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323655 | |||||||
| chrX:44323856 | T | G | 4 | a0001c0001t0001g0100 a0001c0001t0001g0210 a0001c0001t0007g0111 others(1): Show |
4 | HG02615.hp2 HG02965.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.43-11100A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323856 | |||||||
| chrX:44323863 | C | A | 145 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(142): Show |
145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.43-11107G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323863 | |||||||
| chrX:44324034 | T | A | 139 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(136): Show |
139 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.43-11278A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324034 | |||||||
| chrX:44324062 | A | G | 1 | a0002c0002t0004g0125 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.43-11306T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324062 | |||||||
| chrX:44324202 | G | A | 1 | a0001c0001t0004g0137 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.43-11446C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324202 | |||||||
| chrX:44324525 | G | A | 105 | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0120 others(102): Show |
105 | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.43-11769C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324525 | |||||||
| chrX:44324568 | A | G | 11 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(8): Show |
11 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.43-11812T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324568 | |||||||
| chrX:44324900 | C | T | 16 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0003g0013 others(13): Show |
16 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.43-12144G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324900 | |||||||
| chrX:44325033 | C | T | 94 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(91): Show |
94 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.43-12277G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325033 | |||||||
| chrX:44325354 | T | C | 82 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(79): Show |
82 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(79): Show |
intron_variant | MODIFIER | c.43-12598A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325354 | |||||||
| chrX:44325533 | A | G | 3 | a0001c0001t0008g0032 a0001c0001t0013g0031 a0001c0001t0013g0033 |
3 | HG02717.hp1 HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.43-12777T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325533 | |||||||
| chrX:44325634 | A | C | 1 | a0001c0001t0001g0100 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.43-12878T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325634 | |||||||
| chrX:44325676 | A | T | 48 | a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 others(45): Show |
48 | HG00438.hp1 HG00558.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.43-12920T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325676 | |||||||
| chrX:44325773 | C | T | 96 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(93): Show |
96 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.43-13017G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325773 | |||||||
| chrX:44325896 | CT | C | 95 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(92): Show |
95 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.43-13141delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325896 | |||||||
| chrX:44325919 | G | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.43-13163C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325919 | |||||||
| chrX:44326704 | T | G | 1 | a0001c0001t0001g0205 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.43-13948A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326704 | |||||||
| chrX:44326717 | A | AT | 24 | a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0159 others(21): Show |
24 | HG00673.hp1 HG01106.hp1 HG01258.hp1 others(21): Show |
intron_variant | MODIFIER | c.43-13962dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | |||||||
| chrX:44326717 | AT | A | 76 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(73): Show |
76 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.43-13962delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | |||||||
| chrX:44326717 | ATT | A | 10 | a0001c0001t0001g0037 a0001c0001t0001g0086 a0001c0001t0003g0117 others(7): Show |
10 | HG01168.hp2 HG01975.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.43-13963_43-13962d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | |||||||
| chrX:44326717 | ATTTT | A | 9 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(6): Show |
9 | HG01255.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.43-13965_43-13962d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | |||||||
| chrX:44326764 | T | C | 13 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(10): Show |
13 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.43-14008A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326764 | |||||||
| chrX:44327443 | T | C | 3 | a0001c0001t0001g0210 a0001c0001t0010g0131 a0004c0004t0004g0130 |
3 | HG01361.hp1 HG02965.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.43-14687A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327443 | |||||||
| chrX:44327594 | T | A | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.43-14838A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327594 | |||||||
| chrX:44327729 | A | T | 1 | a0001c0001t0005g0107 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.43-14973T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327729 | |||||||
| chrX:44327739 | T | A | 5 | a0001c0001t0003g0118 a0001c0001t0003g0153 a0001c0001t0004g0155 others(2): Show |
5 | HG01256.hp1 NA18953.hp1 NA19055.hp1 others(2): Show |
intron_variant | MODIFIER | c.43-14983A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327739 | |||||||
| chrX:44327807 | C | T | 1 | a0003c0003t0002g0097 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.43-15051G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327807 | |||||||
| chrX:44328009 | T | A | 1 | a0001c0001t0002g0104 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.43-15253A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328009 | |||||||
| chrX:44328086 | AAAGT | A | 10 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(7): Show |
10 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.43-15334_43-15331d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328086 | |||||||
| chrX:44328313 | T | C | 2 | a0001c0001t0001g0178 a0001c0001t0001g0186 |
2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.42+15234A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328313 | |||||||
| chrX:44328461 | G | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.42+15086C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328461 | |||||||
| chrX:44328663 | T | C | 3 | a0001c0001t0016g0220 a0006c0007t0002g0024 a0006c0007t0002g0025 |
3 | HG02572.hp1 HG02818.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.42+14884A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328663 | |||||||
| chrX:44328719 | G | T | 83 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(80): Show |
83 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.42+14828C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328719 | |||||||
| chrX:44328913 | G | T | 103 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(100): Show |
103 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.42+14634C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328913 | |||||||
| chrX:44329238 | C | T | 103 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(100): Show |
103 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.42+14309G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329238 | |||||||
| chrX:44329345 | A | G | 1 | a0002c0008t0004g0052 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.42+14202T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329345 | |||||||
| chrX:44329442 | C | T | 7 | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0219 others(4): Show |
7 | HG00438.hp1 HG02040.hp1 HG02129.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+14105G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329442 | |||||||
| chrX:44329492 | G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.42+14055C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329492 | |||||||
| chrX:44329572 | C | T | 7 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(4): Show |
7 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+13975G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329572 | |||||||
| chrX:44329607 | A | AT | 81 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(78): Show |
81 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(78): Show |
intron_variant | MODIFIER | c.42+13939dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329607 | |||||||
| chrX:44329607 | AT | A | 9 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
9 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.42+13939delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329607 | |||||||
| chrX:44329823 | C | T | 3 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0007g0111 |
3 | HG02615.hp2 HG02723.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.42+13724G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329823 | |||||||
| chrX:44329839 | C | T | 2 | a0001c0001t0009g0157 a0001c0001t0009g0180 |
2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.42+13708G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329839 | |||||||
| chrX:44329854 | C | A | 1 | a0001c0001t0005g0179 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.42+13693G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329854 | |||||||
| chrX:44330025 | C | T | 79 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(76): Show |
79 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.42+13522G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330025 | |||||||
| chrX:44330085 | C | CA | 58 | a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0159 others(55): Show |
58 | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.42+13461dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | |||||||
| chrX:44330085 | C | CAA | 82 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(79): Show |
82 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(79): Show |
intron_variant | MODIFIER | c.42+13460_42+13461d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | |||||||
| chrX:44330085 | C | CAAA | 28 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 others(25): Show |
28 | HG00738.hp1 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.42+13459_42+13461d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | |||||||
| chrX:44330161 | C | G | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+13386G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330161 | |||||||
| chrX:44330286 | T | C | 1 | a0002c0002t0007g0187 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.42+13261A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330286 | |||||||
| chrX:44330574 | G | A | 1 | a0001c0001t0010g0131 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.42+12973C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330574 | |||||||
| chrX:44330612 | G | A | 19 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(16): Show |
19 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.42+12935C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330612 | |||||||
| chrX:44330815 | G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.42+12732C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330815 | |||||||
| chrX:44331013 | C | T | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+12534G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331013 | |||||||
| chrX:44331219 | C | T | 72 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0037 others(69): Show |
72 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(69): Show |
intron_variant | MODIFIER | c.42+12328G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331219 | |||||||
| chrX:44331402 | C | A | 2 | a0006c0007t0002g0024 a0006c0007t0002g0025 |
2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.42+12145G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331402 | |||||||
| chrX:44331661 | A | T | 1 | a0001c0001t0003g0134 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.42+11886T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331661 | |||||||
| chrX:44331678 | G | A | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+11869C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331678 | |||||||
| chrX:44331841 | T | A | 3 | a0001c0001t0003g0013 a0001c0006t0001g0022 a0001c0006t0001g0023 |
3 | HG02280.hp2 HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.42+11706A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331841 | |||||||
| chrX:44331856 | C | T | 2 | a0001c0001t0004g0132 a0001c0001t0010g0133 |
2 | HG02155.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.42+11691G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331856 | |||||||
| chrX:44332086 | G | T | 127 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(124): Show |
127 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(124): Show |
intron_variant | MODIFIER | c.42+11461C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332086 | |||||||
| chrX:44332146 | A | G | 112 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(109): Show |
112 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(109): Show |
intron_variant | MODIFIER | c.42+11401T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332146 | |||||||
| chrX:44332294 | C | G | 8 | a0001c0001t0001g0035 a0001c0001t0002g0029 a0001c0001t0003g0030 others(5): Show |
8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+11253G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332294 | |||||||
| chrX:44332363 | C | T | 2 | a0006c0007t0002g0024 a0006c0007t0002g0025 |
2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.42+11184G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332363 | |||||||
| chrX:44332646 | C | T | 109 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(106): Show |
109 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.42+10901G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332646 | |||||||
| chrX:44333000 | A | C | 18 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0104 others(15): Show |
18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+10547T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333000 | |||||||
| chrX:44333221 | G | A | 1 | a0001c0001t0001g0096 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.42+10326C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333221 | |||||||
| chrX:44333303 | G | T | 10 | a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 others(7): Show |
10 | HG02027.hp1 HG02074.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.42+10244C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333303 | |||||||
| chrX:44333420 | C | T | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+10127G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333420 | |||||||
| chrX:44333508 | C | T | 94 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(91): Show |
94 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.42+10039G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333508 | |||||||
| chrX:44333530 | C | T | 11 | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0049 others(8): Show |
11 | HG01168.hp2 HG01981.hp1 HG03017.hp1 others(8): Show |
intron_variant | MODIFIER | c.42+10017G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333530 | |||||||
| chrX:44333577 | C | T | 1 | a0001c0001t0005g0107 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.42+9970G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333577 | |||||||
| chrX:44333636 | T | C | 2 | a0004c0004t0002g0026 a0004c0004t0002g0027 |
2 | HG02809.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.42+9911A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333636 | |||||||
| chrX:44333740 | C | T | 1 | a0001c0001t0002g0104 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.42+9807G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333740 | |||||||
| chrX:44333772 | C | T | 1 | a0001c0001t0016g0220 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+9775G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333772 | |||||||
| chrX:44333874 | C | T | 7 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(4): Show |
7 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+9673G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333874 | |||||||
| chrX:44333924 | C | A | 2 | a0003c0003t0002g0188 a0003c0003t0002g0189 |
2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.42+9623G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333924 | |||||||
| chrX:44334553 | A | G | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+8994T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334553 | |||||||
| chrX:44334624 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.42+8923G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334624 | |||||||
| chrX:44334764 | G | A | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+8783C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334764 | |||||||
| chrX:44334988 | T | TG | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+8558dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334988 | |||||||
| chrX:44335202 | T | TA | 11 | a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 others(8): Show |
11 | HG01099.hp1 HG02451.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.42+8344dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335202 | |||||||
| chrX:44335202 | TA | T | 8 | a0001c0001t0001g0035 a0001c0001t0002g0029 a0001c0001t0003g0030 others(5): Show |
8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+8344delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335202 | |||||||
| chrX:44335248 | T | C | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+8299A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335248 | |||||||
| chrX:44335268 | TC | T | 7 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(4): Show |
7 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+8278delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335268 | |||||||
| chrX:44335269 | C | T | 106 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
106 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.42+8278G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335269 | |||||||
| chrX:44335291 | G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.42+8256C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335291 | |||||||
| chrX:44335374 | T | C | 86 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(83): Show |
86 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.42+8173A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335374 | |||||||
| chrX:44335502 | A | T | 1 | a0001c0001t0007g0119 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.42+8045T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335502 | |||||||
| chrX:44335637 | T | G | 8 | a0001c0001t0001g0035 a0001c0001t0002g0029 a0001c0001t0003g0030 others(5): Show |
8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+7910A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335637 | |||||||
| chrX:44335778 | A | G | 1 | a0001c0001t0003g0118 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.42+7769T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335778 | |||||||
| chrX:44335881 | C | T | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+7666G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335881 | |||||||
| chrX:44336000 | G | A | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+7547C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336000 | |||||||
| chrX:44336155 | G | A | 8 | a0001c0001t0001g0035 a0001c0001t0002g0029 a0001c0001t0003g0030 others(5): Show |
8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+7392C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336155 | |||||||
| chrX:44336216 | G | A | 1 | a0001c0001t0005g0193 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.42+7331C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336216 | |||||||
| chrX:44336322 | G | T | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.42+7225C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336322 | |||||||
| chrX:44336396 | A | T | 2 | a0001c0001t0003g0117 a0001c0001t0005g0116 |
2 | NA18952.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.42+7151T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336396 | |||||||
| chrX:44336685 | A | T | 18 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0104 others(15): Show |
18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+6862T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336685 | |||||||
| chrX:44336937 | G | T | 3 | a0001c0001t0001g0042 a0001c0001t0003g0043 a0001c0013t0003g0044 |
3 | HG01168.hp2 HG01981.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.42+6610C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336937 | |||||||
| chrX:44337072 | C | T | 1 | a0003c0003t0002g0115 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.42+6475G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337072 | |||||||
| chrX:44337084 | C | T | 18 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0104 others(15): Show |
18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+6463G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337084 | |||||||
| chrX:44337867 | T | C | 1 | a0001c0001t0002g0098 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.42+5680A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337867 | |||||||
| chrX:44338005 | A | G | 96 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(93): Show |
96 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.42+5542T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338005 | |||||||
| chrX:44338139 | T | A | 18 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0104 others(15): Show |
18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+5408A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338139 | |||||||
| chrX:44338294 | A | T | 96 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(93): Show |
96 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.42+5253T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338294 | |||||||
| chrX:44338366 | T | TG | 114 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(111): Show |
114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+5180dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338366 | |||||||
| chrX:44338431 | G | T | 1 | a0001c0001t0003g0112 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+5116C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338431 | |||||||
| chrX:44338537 | G | A | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+5010C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338537 | |||||||
| chrX:44338594 | C | T | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+4953G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338594 | |||||||
| chrX:44338726 | T | C | 1 | a0003c0003t0002g0097 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.42+4821A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338726 | |||||||
| chrX:44338728 | C | CA | 13 | a0001c0001t0001g0042 a0001c0001t0001g0194 a0001c0001t0001g0195 others(10): Show |
13 | HG01981.hp2 HG02451.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.42+4818dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | |||||||
| chrX:44338728 | C | CAA | 82 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0035 others(79): Show |
82 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(79): Show |
intron_variant | MODIFIER | c.42+4817_42+4818dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | |||||||
| chrX:44338728 | C | CAAA | 29 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(26): Show |
29 | HG00738.hp1 HG01243.hp1 HG01255.hp1 others(26): Show |
intron_variant | MODIFIER | c.42+4816_42+4818dup others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | |||||||
| chrX:44338817 | G | A | 2 | a0001c0001t0003g0208 a0002c0002t0004g0207 |
2 | NA18969.hp2 NA18994.hp1 |
intron_variant | MODIFIER | c.42+4730C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338817 | |||||||
| chrX:44338916 | C | T | 1 | a0001c0001t0004g0041 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.42+4631G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338916 | |||||||
| chrX:44338989 | G | A | 8 | a0001c0001t0001g0035 a0001c0001t0002g0029 a0001c0001t0003g0030 others(5): Show |
8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+4558C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338989 | |||||||
| chrX:44339165 | T | TG | 21 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(18): Show |
21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4381dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339165 | |||||||
| chrX:44339191 | C | CAAAAAA | 88 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(85): Show |
88 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.42+4350_42+4355dup others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339191 | |||||||
| chrX:44339191 | C | CAAAAAAA others(1): Show |
21 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(18): Show |
21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4348_42+4355dup others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339191 | |||||||
| chrX:44339223 | A | T | 93 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(90): Show |
93 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.42+4324T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339223 | |||||||
| chrX:44339224 | T | G | 6 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0204 others(3): Show |
6 | HG00558.hp1 NA18969.hp2 NA18971.hp1 others(3): Show |
intron_variant | MODIFIER | c.42+4323A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339224 | |||||||
| chrX:44339296 | T | C | 21 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(18): Show |
21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4251A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339296 | |||||||
| chrX:44339397 | G | A | 21 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(18): Show |
21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4150C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339397 | |||||||
| chrX:44339530 | G | C | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+4017C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339530 | |||||||
| chrX:44339761 | G | C | 1 | a0001c0001t0002g0098 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.42+3786C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339761 | |||||||
| chrX:44339761 | G | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.42+3786C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339761 | |||||||
| chrX:44339875 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.42+3672A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339875 | |||||||
| chrX:44339892 | A | C | 21 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(18): Show |
21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+3655T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339892 | |||||||
| chrX:44339968 | ATAAATAC others(10): Show |
A | 1 | a0001c0001t0003g0112 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+3562_42+3578del others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339968 | |||||||
| chrX:44340021 | C | T | 20 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0100 others(17): Show |
20 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(17): Show |
intron_variant | MODIFIER | c.42+3526G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340021 | |||||||
| chrX:44340038 | A | G | 114 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(111): Show |
114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+3509T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340038 | |||||||
| chrX:44340564 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.42+2983G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340564 | |||||||
| chrX:44340706 | C | T | 1 | a0001c0001t0008g0038 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.42+2841G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340706 | |||||||
| chrX:44341200 | G | T | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2347C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341200 | |||||||
| chrX:44341201 | C | T | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2346G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341201 | |||||||
| chrX:44341204 | A | T | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2343T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341204 | |||||||
| chrX:44341205 | A | C | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2342T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341205 | |||||||
| chrX:44341206 | C | A | 1 | a0001c0001t0004g0209 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2341G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341206 | |||||||
| chrX:44341298 | A | G | 2 | a0001c0001t0001g0037 a0001c0001t0005g0036 |
2 | NA18989.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.42+2249T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341298 | |||||||
| chrX:44341365 | T | C | 77 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0037 others(74): Show |
77 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.42+2182A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341365 | |||||||
| chrX:44341687 | G | A | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+1860C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341687 | |||||||
| chrX:44341854 | T | C | 114 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(111): Show |
114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+1693A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341854 | |||||||
| chrX:44342150 | C | T | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+1397G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342150 | |||||||
| chrX:44342618 | T | TGTAATCC others(18): Show |
1 | a0001c0001t0012g0211 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.42+904_42+928dupCG others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342618 | |||||||
| chrX:44342855 | G | A | 8 | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0219 others(5): Show |
8 | HG00438.hp1 HG02040.hp1 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+692C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342855 | |||||||
| chrX:44342875 | C | CAAAAAAA others(3): Show |
87 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 others(84): Show |
87 | HG00558.hp2 HG00642.hp1 HG00738.hp1 others(84): Show |
intron_variant | MODIFIER | c.42+662_42+671dupTT others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | |||||||
| chrX:44342875 | C | CAAAAAAA others(4): Show |
19 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show |
19 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.42+661_42+671dupTT others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | |||||||
| chrX:44342875 | C | CAAAAAAA others(5): Show |
3 | a0001c0001t0001g0009 a0001c0001t0003g0112 a0001c0001t0007g0111 |
3 | HG02055.hp1 HG03209.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.42+660_42+671dupTT others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | |||||||
| chrX:44342881 | A | AAAAAAAA others(3): Show |
1 | a0001c0001t0001g0010 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.42+665_42+666insCT others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342881 | |||||||
| chrX:44342975 | T | C | 1 | a0001c0001t0001g0113 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.42+572A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342975 | |||||||
| chrX:44343009 | C | G | 8 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+538G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343009 | |||||||
| chrX:44343037 | A | G | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+510T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343037 | |||||||
| chrX:44343380 | C | T | 113 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(110): Show |
113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+167G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343380 | |||||||
| chrX:44343396 | A | G | 1 | a0001c0001t0005g0001 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.42+151T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343396 |