Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 23518 |
| ensemblid | ENSG00000048991.18 |
| hgncid | 9757 |
| symbol | R3HDM1 |
| name | R3H domain containing 1 |
| refseq_nuc | NM_001378107.1 |
| refseq_prot | NP_001365036.1 |
| ensembl_nuc | ENST00000683871.1 |
| ensembl_prot | ENSP00000506980.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 135531484 |
| end | 135725269 |
| strand | + |
| ver | v1.2 |
| region | chr2:135531484-135725269 |
| region5000 | chr2:135526484-135730269 |
| regionname0 | R3HDM1_chr2_135531484_135725269 |
| regionname5000 | R3HDM1_chr2_135526484_135730269 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1134 | 99 | 53 | 9 | 29 | 0 | 7 | 22 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0002 | 0/0 | 1134 | 53 | 10 | 7 | 27 | 0 | 9 | 24 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0003 | 0/0 | 1134 | 48 | 6 | 11 | 24 | 0 | 7 | 22 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0004 | 1/0 | 1134 | 13 | 1 | 9 | 0 | 0 | 2 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0005 | 0/0 | 1076 | 4 | 0 | 1 | 2 | 0 | 1 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1071): Show |
chr2 | 135526484 | 135730269 |
| a0006 | 0/0 | 1076 | 4 | 3 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1071): Show |
chr2 | 135526484 | 135730269 |
| a0007 | 0/0 | 1076 | 3 | 0 | 1 | 2 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1071): Show |
chr2 | 135526484 | 135730269 |
| a0008 | 0/0 | 1134 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0009 | 0/0 | 1134 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0010 | 0/0 | 1134 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0011 | 0/0 | 1134 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1129): Show |
chr2 | 135526484 | 135730269 |
| a0012 | 0/0 | 1076 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | MRMSD others(1071): Show |
chr2 | 135526484 | 135730269 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3402 | 99 | 53 | 9 | 29 | 0 | 7 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0002c0002 | 0/0 | 3402 | 53 | 10 | 7 | 27 | 0 | 9 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0003c0003 | 0/0 | 3402 | 48 | 6 | 11 | 24 | 0 | 7 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0004c0004 | 1/0 | 3402 | 13 | 1 | 9 | 0 | 0 | 2 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0005c0006 | 0/0 | 3403 | 4 | 0 | 1 | 2 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3398): Show |
chr2 | 135526484 | 135730269 | ||
| a0006c0005 | 0/0 | 3403 | 4 | 3 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3398): Show |
chr2 | 135526484 | 135730269 | ||
| a0007c0007 | 0/0 | 3403 | 3 | 0 | 1 | 2 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3398): Show |
chr2 | 135526484 | 135730269 | ||
| a0008c0008 | 0/0 | 3402 | 3 | 0 | 0 | 3 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0009c0009 | 0/0 | 3402 | 2 | 2 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0010c0010 | 0/0 | 3402 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0011c0012 | 0/0 | 3402 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3397): Show |
chr2 | 135526484 | 135730269 | ||
| a0012c0011 | 0/0 | 3403 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATGAG others(3398): Show |
chr2 | 135526484 | 135730269 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 4781 | 83 | 52 | 7 | 17 | 0 | 6 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0001c0001t0002 | 0/0 | 4781 | 8 | 0 | 1 | 7 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0001c0001t0004 | 0/0 | 4778 | 5 | 0 | 0 | 5 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4773): Show |
chr2 | 135526484 | 135730269 |
| a0001c0001t0005 | 0/0 | 4781 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0001c0001t0007 | 0/0 | 4781 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0001c0001t0008 | 0/0 | 4781 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0002c0002t0001 | 0/0 | 4781 | 53 | 10 | 7 | 27 | 0 | 9 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0003c0003t0001 | 0/0 | 4781 | 43 | 6 | 7 | 23 | 0 | 7 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0003c0003t0003 | 0/0 | 4814 | 5 | 0 | 4 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4809): Show |
chr2 | 135526484 | 135730269 |
| a0004c0004t0001 | 1/0 | 4781 | 13 | 1 | 9 | 0 | 0 | 2 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0005c0006t0001 | 0/0 | 4782 | 3 | 0 | 1 | 1 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4777): Show |
chr2 | 135526484 | 135730269 |
| a0005c0006t0003 | 0/0 | 4815 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4810): Show |
chr2 | 135526484 | 135730269 |
| a0006c0005t0001 | 0/0 | 4782 | 3 | 2 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4777): Show |
chr2 | 135526484 | 135730269 |
| a0006c0005t0006 | 0/0 | 4782 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4777): Show |
chr2 | 135526484 | 135730269 |
| a0007c0007t0001 | 0/0 | 4782 | 3 | 0 | 1 | 2 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4777): Show |
chr2 | 135526484 | 135730269 |
| a0008c0008t0001 | 0/0 | 4781 | 3 | 0 | 0 | 3 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0009c0009t0001 | 0/0 | 4781 | 2 | 2 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0010c0010t0001 | 0/0 | 4781 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0011c0012t0001 | 0/0 | 4781 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4776): Show |
chr2 | 135526484 | 135730269 |
| a0012c0011t0001 | 0/0 | 4782 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | ATTCT others(4777): Show |
chr2 | 135526484 | 135730269 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0117 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0004g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0004g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0004g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0004g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0004g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0005g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0007g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0001c0001t0008g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0002c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0003g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0003g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0003g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0003c0003t0003g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0111 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0004c0004t0001g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0005c0006t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0005c0006t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0005c0006t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0005c0006t0003g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0006c0005t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0006c0005t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0006c0005t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0006c0005t0006g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0007c0007t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0007c0007t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0007c0007t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0008c0008t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0008c0008t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0008c0008t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0009c0009t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0009c0009t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0010c0010t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0011c0012t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| a0012c0011t0001g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | CHS | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | CHS | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0105 | EAS | CHS | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00558 | hp2 | a0001 | c0001 | t0004 | g0088 | EAS | CHS | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00621 | hp1 | a0007 | c0007 | t0001 | g0180 | EAS | CHS | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00621 | hp2 | a0001 | c0001 | t0004 | g0087 | EAS | CHS | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0092 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00735 | hp1 | a0002 | c0002 | t0001 | g0108 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0082 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00741 | hp1 | a0003 | c0003 | t0001 | g0195 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG00741 | hp2 | a0004 | c0004 | t0001 | g0115 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01069 | hp1 | a0004 | c0004 | t0001 | g0232 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01069 | hp2 | a0002 | c0002 | t0001 | g0063 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01071 | hp1 | a0002 | c0002 | t0001 | g0062 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01071 | hp2 | a0004 | c0004 | t0001 | g0064 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01175 | hp2 | a0007 | c0007 | t0001 | g0170 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01192 | hp1 | a0005 | c0006 | t0001 | g0010 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01192 | hp2 | a0002 | c0002 | t0001 | g0154 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01243 | hp2 | a0001 | c0001 | t0008 | g0205 | AMR | PUR | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01256 | hp1 | a0004 | c0004 | t0001 | g0110 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01256 | hp2 | a0003 | c0003 | t0001 | g0192 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01261 | hp2 | a0004 | c0004 | t0001 | g0112 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0149 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01346 | hp2 | a0003 | c0003 | t0003 | g0039 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01433 | hp1 | a0003 | c0003 | t0001 | g0011 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01433 | hp2 | a0003 | c0003 | t0001 | g0190 | AMR | CLM | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01884 | hp2 | a0004 | c0004 | t0001 | g0132 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01928 | hp1 | a0003 | c0003 | t0001 | g0194 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01928 | hp2 | a0004 | c0004 | t0001 | g0121 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01943 | hp1 | a0002 | c0002 | t0001 | g0160 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01943 | hp2 | a0003 | c0003 | t0001 | g0191 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01975 | hp1 | a0004 | c0004 | t0001 | g0113 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01975 | hp2 | a0003 | c0003 | t0001 | g0193 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01978 | hp1 | a0003 | c0003 | t0003 | g0030 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0083 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01981 | hp1 | a0004 | c0004 | t0001 | g0114 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01981 | hp2 | a0003 | c0003 | t0003 | g0055 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01993 | hp1 | a0002 | c0002 | t0001 | g0188 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG01993 | hp2 | a0002 | c0002 | t0001 | g0140 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0231 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02055 | hp2 | a0002 | c0002 | t0001 | g0172 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | KHV | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02056 | hp2 | a0005 | c0006 | t0003 | g0043 | EAS | KHV | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02080 | hp1 | a0002 | c0002 | t0001 | g0181 | EAS | KHV | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02080 | hp2 | a0006 | c0005 | t0001 | g0042 | EAS | KHV | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02132 | hp1 | a0003 | c0003 | t0001 | g0199 | EAS | KHV | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02132 | hp2 | a0002 | c0002 | t0001 | g0179 | EAS | KHV | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02145 | hp1 | a0006 | c0005 | t0001 | g0072 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02145 | hp2 | a0002 | c0002 | t0001 | g0171 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0157 | EAS | CDX | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02165 | hp2 | a0003 | c0003 | t0001 | g0201 | EAS | CDX | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0206 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02257 | hp2 | a0003 | c0003 | t0001 | g0015 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0221 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02280 | hp2 | a0003 | c0003 | t0001 | g0024 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02300 | hp1 | a0003 | c0003 | t0003 | g0041 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02300 | hp2 | a0004 | c0004 | t0001 | g0122 | AMR | PEL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02451 | hp1 | a0002 | c0002 | t0001 | g0187 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02451 | hp2 | a0003 | c0003 | t0001 | g0012 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02622 | hp1 | a0006 | c0005 | t0001 | g0097 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0220 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0213 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0218 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0078 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02809 | hp2 | a0011 | c0012 | t0001 | g0219 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0212 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02896 | hp2 | a0012 | c0011 | t0001 | g0229 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0222 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0230 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02976 | hp1 | a0009 | c0009 | t0001 | g0227 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0226 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0018 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03017 | hp2 | a0002 | c0002 | t0001 | g0189 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0056 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0095 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0211 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0223 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0144 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0067 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0215 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03239 | hp2 | a0004 | c0004 | t0001 | g0134 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03453 | hp2 | a0002 | c0002 | t0001 | g0143 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03486 | hp1 | a0002 | c0002 | t0001 | g0058 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0125 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03490 | hp2 | a0003 | c0003 | t0001 | g0204 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03491 | hp1 | a0003 | c0003 | t0001 | g0061 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03491 | hp2 | a0002 | c0002 | t0001 | g0161 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03516 | hp1 | a0006 | c0005 | t0006 | g0065 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0089 | AFR | ESN | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0217 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03540 | hp2 | a0001 | c0001 | t0005 | g0106 | AFR | GWD | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0225 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0066 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0100 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0173 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03688 | hp1 | a0002 | c0002 | t0001 | g0166 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03688 | hp2 | a0003 | c0003 | t0001 | g0021 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03704 | hp1 | a0001 | c0001 | t0007 | g0019 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0124 | SAS | PJL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03942 | hp1 | a0003 | c0003 | t0001 | g0020 | SAS | BEB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03942 | hp2 | a0002 | c0002 | t0001 | g0176 | SAS | BEB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0182 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04115 | hp2 | a0005 | c0006 | t0001 | g0022 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04184 | hp1 | a0002 | c0002 | t0001 | g0028 | SAS | BEB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0109 | SAS | BEB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04199 | hp1 | a0002 | c0002 | t0001 | g0175 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04199 | hp2 | a0003 | c0003 | t0001 | g0060 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04228 | hp1 | a0003 | c0003 | t0001 | g0026 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG04228 | hp2 | a0002 | c0002 | t0001 | g0141 | SAS | STU | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18522 | hp1 | a0002 | c0002 | t0001 | g0186 | AFR | YRI | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0214 | AFR | YRI | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18747 | hp1 | a0001 | c0001 | t0004 | g0084 | EAS | CHB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18747 | hp2 | a0008 | c0008 | t0001 | g0163 | EAS | CHB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18906 | hp1 | a0003 | c0003 | t0001 | g0016 | AFR | YRI | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | YRI | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18939 | hp1 | a0002 | c0002 | t0001 | g0165 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18939 | hp2 | a0003 | c0003 | t0001 | g0031 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18941 | hp1 | a0002 | c0002 | t0001 | g0158 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18941 | hp2 | a0003 | c0003 | t0001 | g0037 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18947 | hp1 | a0005 | c0006 | t0001 | g0126 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0145 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18959 | hp2 | a0003 | c0003 | t0001 | g0059 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18962 | hp2 | a0002 | c0002 | t0001 | g0130 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18966 | hp2 | a0001 | c0001 | t0002 | g0128 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18967 | hp1 | a0003 | c0003 | t0001 | g0029 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18967 | hp2 | a0002 | c0002 | t0001 | g0174 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18968 | hp1 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18968 | hp2 | a0002 | c0002 | t0001 | g0104 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18969 | hp1 | a0002 | c0002 | t0001 | g0152 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18969 | hp2 | a0003 | c0003 | t0001 | g0202 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18971 | hp1 | a0002 | c0002 | t0001 | g0162 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18972 | hp2 | a0003 | c0003 | t0001 | g0198 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18979 | hp1 | a0002 | c0002 | t0001 | g0155 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18979 | hp2 | a0003 | c0003 | t0001 | g0203 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0129 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18981 | hp2 | a0001 | c0001 | t0004 | g0086 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18982 | hp1 | a0002 | c0002 | t0001 | g0135 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18982 | hp2 | a0003 | c0003 | t0001 | g0196 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18990 | hp2 | a0002 | c0002 | t0001 | g0177 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18992 | hp2 | a0003 | c0003 | t0001 | g0014 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18993 | hp1 | a0002 | c0002 | t0001 | g0118 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18993 | hp2 | a0003 | c0003 | t0001 | g0044 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18995 | hp1 | a0002 | c0002 | t0001 | g0164 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA18999 | hp2 | a0008 | c0008 | t0001 | g0142 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19001 | hp1 | a0001 | c0001 | t0002 | g0119 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19001 | hp2 | a0003 | c0003 | t0001 | g0025 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19004 | hp1 | a0002 | c0002 | t0001 | g0159 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19007 | hp1 | a0002 | c0002 | t0001 | g0178 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19007 | hp2 | a0003 | c0003 | t0001 | g0033 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | LWK | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | LWK | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0210 | AFR | LWK | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0091 | AFR | LWK | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19058 | hp1 | a0001 | c0001 | t0002 | g0120 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19058 | hp2 | a0003 | c0003 | t0001 | g0035 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19063 | hp1 | a0002 | c0002 | t0001 | g0138 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19063 | hp2 | a0008 | c0008 | t0001 | g0169 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19064 | hp2 | a0003 | c0003 | t0001 | g0027 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19070 | hp1 | a0002 | c0002 | t0001 | g0146 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19070 | hp2 | a0003 | c0003 | t0001 | g0200 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19074 | hp1 | a0003 | c0003 | t0001 | g0013 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19074 | hp2 | a0002 | c0002 | t0001 | g0167 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19077 | hp1 | a0007 | c0007 | t0001 | g0185 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19077 | hp2 | a0003 | c0003 | t0001 | g0034 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19078 | hp1 | a0002 | c0002 | t0001 | g0009 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19078 | hp2 | a0003 | c0003 | t0001 | g0048 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19079 | hp1 | a0003 | c0003 | t0001 | g0036 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19082 | hp1 | a0002 | c0002 | t0001 | g0151 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19082 | hp2 | a0003 | c0003 | t0001 | g0054 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19083 | hp2 | a0002 | c0002 | t0001 | g0153 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19084 | hp1 | a0001 | c0001 | t0004 | g0085 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19084 | hp2 | a0002 | c0002 | t0001 | g0147 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19088 | hp1 | a0003 | c0003 | t0003 | g0040 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19088 | hp2 | a0002 | c0002 | t0001 | g0137 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19091 | hp1 | a0002 | c0002 | t0001 | g0150 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19091 | hp2 | a0003 | c0003 | t0001 | g0197 | EAS | JPT | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | YRI | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | YRI | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA20905 | hp1 | a0004 | c0004 | t0001 | g0116 | SAS | GIH | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA20905 | hp2 | a0003 | c0003 | t0001 | g0032 | SAS | GIH | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0224 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02486 | hp1 | a0003 | c0003 | t0001 | g0053 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02559 | hp1 | a0010 | c0010 | t0001 | g0094 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | ACB | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0156 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| HG03471 | hp2 | a0009 | c0009 | t0001 | g0228 | AFR | MSL | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA20300 | hp1 | a0003 | c0003 | t0001 | g0023 | AFR | USA | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA20300 | hp2 | a0002 | c0002 | t0001 | g0168 | AFR | USA | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | LWK | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| NA21309 | hp2 | a0002 | c0002 | t0001 | g0101 | AFR | LWK | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0117 | REF | REF | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| homoSapiens | grch38p0 | a0004 | c0004 | t0001 | g0111 | REF | REF | R3HDM1_chr2_135526484_135730269 | R3HDM1 | chr2 | 135526484 | 135730269 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:135636088 | A | G | 3 | a0002 a0007 a0008 |
59 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(56): Show |
missense_variant&splice_region_variant | MODERATE | c.808A>G | p.Met270Val | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/27 | 1207/4781 | 808/3405 | 270/1134 | chr2 | 135636088 | |||
| chr2:135641778 | A | C | 1 | a0011 | 1 | HG02809.hp2 | missense_variant | MODERATE | c.1462A>C | p.Asn488His | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/27 | 1861/4781 | 1462/3405 | 488/1134 | chr2 | 135641778 | |||
| chr2:135641785 | A | G | 2 | a0009 a0012 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
missense_variant | MODERATE | c.1469A>G | p.Gln490Arg | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/27 | 1868/4781 | 1469/3405 | 490/1134 | chr2 | 135641785 | |||
| chr2:135649909 | A | G | 11 | a0001 a0002 a0003 others(8): Show |
218 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(215): Show |
missense_variant | MODERATE | c.1631A>G | p.His544Arg | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/27 | 2030/4781 | 1631/3405 | 544/1134 | chr2 | 135649909 | |||
| chr2:135651874 | C | A | 1 | a0010 | 1 | HG02559.hp1 | missense_variant | MODERATE | c.1870C>A | p.Pro624Thr | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/27 | 2269/4781 | 1870/3405 | 624/1134 | chr2 | 135651874 | |||
| chr2:135652004 | A | C | 3 | a0003 a0005 a0008 |
55 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(52): Show |
missense_variant | MODERATE | c.2000A>C | p.Gln667Pro | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/27 | 2399/4781 | 2000/3405 | 667/1134 | chr2 | 135652004 | |||
| chr2:135724075 | A | AC | 4 | a0005 a0006 a0007 others(1): Show |
12 | HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
frameshift_variant | HIGH | c.3193dupC | p.Leu1065fs | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 3593/4781 | 3194/3405 | 1065/1134 | INFO_REALIGN_3_PRIME | chr2 | 135724075 |
| 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 |
|---|
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:135531578 | C | G | 1 | a0001c0001t0008 | 1 | HG01243.hp2 | 5_prime_UTR_variant | MODIFIER | c.-305C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/27 | 73268 | chr2 | 135531578 | ||||||
| chr2:135724376 | CATT | C | 1 | a0001c0001t0004 | 5 | HG00558.hp2 HG00621.hp2 NA18747.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*87_*89delTAT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 87 | INFO_REALIGN_3_PRIME | chr2 | 135724376 | |||||
| chr2:135724382 | A | G | 1 | a0001c0001t0007 | 1 | HG03704.hp1 | 3_prime_UTR_variant | MODIFIER | c.*90A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 90 | chr2 | 135724382 | ||||||
| chr2:135724610 | T | C | 1 | a0001c0001t0002 | 8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*318T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 318 | chr2 | 135724610 | ||||||
| chr2:135724612 | C | T | 1 | a0006c0005t0006 | 1 | HG03516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*320C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 320 | chr2 | 135724612 | ||||||
| chr2:135725004 | A | C | 1 | a0001c0001t0002 | 8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*712A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 712 | chr2 | 135725004 | ||||||
| chr2:135725196 | T | TAATTTGC others(26): Show |
2 | a0003c0003t0003 a0005c0006t0003 |
6 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*906_*938dupATTTGC others(27): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 939 | INFO_REALIGN_3_PRIME | chr2 | 135725196 | |||||
| chr2:135725244 | C | A | 1 | a0001c0001t0005 | 1 | HG03540.hp2 | 3_prime_UTR_variant | MODIFIER | c.*952C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 952 | chr2 | 135725244 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:135531886 | C | T | 1 | a0004c0004t0001g0232 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-250+253C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135531886 | |||||||
| chr2:135531901 | C | G | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-250+268C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135531901 | |||||||
| chr2:135531995 | C | T | 14 | a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 others(11): Show |
14 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(11): Show |
intron_variant | MODIFIER | c.-250+362C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135531995 | |||||||
| chr2:135532082 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+449G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135532082 | |||||||
| chr2:135532115 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+482G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135532115 | |||||||
| chr2:135532178 | G | A | 1 | a0002c0002t0001g0009 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.-250+545G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135532178 | |||||||
| chr2:135532562 | A | AAT | 69 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(66): Show |
69 | HG00408.hp2 HG00741.hp1 HG01069.hp2 others(66): Show |
intron_variant | MODIFIER | c.-250+944_-250+945d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135532562 | ||||||
| chr2:135532578 | TCTTCATG others(12): Show |
T | 1 | a0006c0005t0006g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-250+948_-250+966d others(21): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135532578 | ||||||
| chr2:135532729 | A | G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+1096A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135532729 | |||||||
| chr2:135533037 | T | C | 135 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
135 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(132): Show |
intron_variant | MODIFIER | c.-250+1404T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533037 | |||||||
| chr2:135533093 | T | A | 135 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
135 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(132): Show |
intron_variant | MODIFIER | c.-250+1460T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533093 | |||||||
| chr2:135533286 | A | G | 2 | a0003c0003t0001g0060 a0003c0003t0001g0061 |
2 | HG03491.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-250+1653A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533286 | |||||||
| chr2:135533603 | G | A | 1 | a0002c0002t0001g0100 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-250+1970G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533603 | |||||||
| chr2:135533707 | G | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+2074G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533707 | |||||||
| chr2:135533740 | A | G | 135 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
135 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(132): Show |
intron_variant | MODIFIER | c.-250+2107A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533740 | |||||||
| chr2:135533777 | G | A | 1 | a0006c0005t0006g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-250+2144G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135533777 | |||||||
| chr2:135534373 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+2740C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135534373 | |||||||
| chr2:135534823 | T | G | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-250+3190T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135534823 | |||||||
| chr2:135534855 | A | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show |
142 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(139): Show |
intron_variant | MODIFIER | c.-250+3222A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135534855 | |||||||
| chr2:135535220 | G | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0184 |
2 | NA18999.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-250+3587G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135535220 | |||||||
| chr2:135535499 | A | AAAAT | 39 | a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0074 others(36): Show |
39 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.-250+3908_-250+391 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535499 | A | AAAATAAA others(1): Show |
7 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show |
7 | HG01175.hp1 HG01433.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-250+3904_-250+391 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535499 | A | AAAATAAA others(5): Show |
1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-250+3900_-250+391 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535499 | AAAAT | A | 102 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(99): Show |
102 | HG00408.hp2 HG00621.hp1 HG01069.hp2 others(99): Show |
intron_variant | MODIFIER | c.-250+3908_-250+391 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535499 | AAAATAAA others(1): Show |
A | 8 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show |
8 | HG01433.hp2 HG01993.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-250+3904_-250+391 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535499 | AAAATAAA others(9): Show |
A | 1 | a0002c0002t0001g0182 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-250+3896_-250+391 others(20): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535499 | AAAATAAA others(13): Show |
A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+3892_-250+391 others(24): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135535499 | ||||||
| chr2:135535537 | AATAAATA others(1): Show |
A | 18 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(15): Show |
18 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(15): Show |
intron_variant | MODIFIER | c.-250+3905_-250+391 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135535537 | |||||||
| chr2:135535545 | T | A | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-250+3912T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135535545 | |||||||
| chr2:135535636 | C | T | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-250+4003C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135535636 | |||||||
| chr2:135535687 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+4054G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135535687 | |||||||
| chr2:135536022 | T | G | 3 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 |
3 | HG03130.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-250+4389T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135536022 | |||||||
| chr2:135536155 | TAAG | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+4524_-250+452 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135536155 | ||||||
| chr2:135536295 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+4662G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135536295 | |||||||
| chr2:135536313 | A | G | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-250+4680A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135536313 | |||||||
| chr2:135536475 | T | C | 26 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show |
26 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-250+4842T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135536475 | |||||||
| chr2:135536560 | A | G | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-250+4927A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135536560 | |||||||
| chr2:135536986 | C | CATCT | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-250+5354_-250+535 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135536986 | ||||||
| chr2:135537150 | A | C | 2 | a0003c0003t0001g0201 a0003c0003t0001g0202 |
2 | HG02165.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.-250+5517A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537150 | |||||||
| chr2:135537174 | T | TA | 11 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(8): Show |
11 | HG02056.hp1 HG02258.hp2 HG02896.hp2 others(8): Show |
intron_variant | MODIFIER | c.-250+5560dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537174 | ||||||
| chr2:135537174 | T | TAA | 14 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG02109.hp2 HG02280.hp1 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.-250+5559_-250+556 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537174 | ||||||
| chr2:135537174 | TA | T | 7 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0066 others(4): Show |
7 | HG00558.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.-250+5560delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537174 | ||||||
| chr2:135537198 | T | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+5565T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537198 | |||||||
| chr2:135537277 | C | CT | 54 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(51): Show |
54 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(51): Show |
intron_variant | MODIFIER | c.-250+5670dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537277 | ||||||
| chr2:135537277 | CT | C | 59 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(56): Show |
59 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(56): Show |
intron_variant | MODIFIER | c.-250+5670delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537277 | ||||||
| chr2:135537277 | CTT | C | 27 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.-250+5669_-250+567 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537277 | ||||||
| chr2:135537277 | CTTTTTTT others(2): Show |
C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+5662_-250+567 others(13): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537277 | ||||||
| chr2:135537346 | C | T | 1 | a0008c0008t0001g0169 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-250+5713C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537346 | |||||||
| chr2:135537347 | G | T | 8 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(5): Show |
8 | NA18947.hp2 NA18952.hp2 NA18966.hp1 others(5): Show |
intron_variant | MODIFIER | c.-250+5714G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537347 | |||||||
| chr2:135537406 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+5773C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537406 | |||||||
| chr2:135537608 | C | CTTATT | 42 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(39): Show |
42 | HG00408.hp1 HG01192.hp2 HG01928.hp2 others(39): Show |
intron_variant | MODIFIER | c.-250+6039_-250+604 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | C | CTTATTTT others(3): Show |
9 | a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0002g0105 others(6): Show |
9 | HG00558.hp1 HG00621.hp1 HG02056.hp1 others(6): Show |
intron_variant | MODIFIER | c.-250+6034_-250+604 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | C | CTTATTTT others(8): Show |
1 | a0001c0001t0001g0002 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-250+6029_-250+604 others(19): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | C | CTTATTTT others(13): Show |
1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-250+6024_-250+604 others(24): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | C | CTTATTTT others(23): Show |
1 | a0001c0001t0001g0003 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-250+6014_-250+604 others(34): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | CTTATT | C | 43 | a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0089 others(40): Show |
43 | HG00408.hp2 HG00639.hp2 HG00741.hp1 others(40): Show |
intron_variant | MODIFIER | c.-250+6039_-250+604 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | CTTATTTT others(3): Show |
C | 55 | a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0047 others(52): Show |
55 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.-250+6034_-250+604 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | CTTATTTT others(8): Show |
C | 38 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(35): Show |
38 | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(35): Show |
intron_variant | MODIFIER | c.-250+6029_-250+604 others(19): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537608 | CTTATTTT others(13): Show |
C | 3 | a0001c0001t0001g0073 a0003c0003t0001g0201 a0003c0003t0001g0202 |
3 | HG02165.hp2 HG02922.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.-250+6024_-250+604 others(24): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135537608 | ||||||
| chr2:135537733 | T | A | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-250+6100T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537733 | |||||||
| chr2:135537742 | C | T | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-250+6109C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537742 | |||||||
| chr2:135537904 | C | T | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250+6271C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537904 | |||||||
| chr2:135537926 | G | A | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+6293G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537926 | |||||||
| chr2:135537960 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+6327G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135537960 | |||||||
| chr2:135538481 | G | A | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-250+6848G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135538481 | |||||||
| chr2:135538540 | A | G | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-250+6907A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135538540 | |||||||
| chr2:135538716 | C | T | 2 | a0001c0001t0001g0131 a0002c0002t0001g0130 |
2 | NA18959.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.-250+7083C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135538716 | |||||||
| chr2:135538922 | TTTG | T | 132 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(129): Show |
132 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(129): Show |
intron_variant | MODIFIER | c.-250+7313_-250+731 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135538922 | ||||||
| chr2:135539087 | A | T | 2 | a0001c0001t0001g0038 a0003c0003t0001g0013 |
2 | HG00408.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.-250+7454A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539087 | |||||||
| chr2:135539186 | A | T | 2 | a0003c0003t0001g0026 a0005c0006t0001g0022 |
2 | HG04115.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-250+7553A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539186 | |||||||
| chr2:135539336 | T | C | 2 | a0002c0002t0001g0028 a0003c0003t0001g0027 |
2 | HG04184.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.-250+7703T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539336 | |||||||
| chr2:135539370 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+7737G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539370 | |||||||
| chr2:135539559 | G | C | 1 | a0003c0003t0001g0029 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.-250+7926G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539559 | |||||||
| chr2:135539702 | T | TA | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+8072dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135539702 | ||||||
| chr2:135539757 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+8124T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539757 | |||||||
| chr2:135539960 | G | A | 13 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(10): Show |
13 | HG02257.hp2 HG03017.hp1 HG03704.hp1 others(10): Show |
intron_variant | MODIFIER | c.-250+8327G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135539960 | |||||||
| chr2:135540084 | G | T | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-250+8451G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540084 | |||||||
| chr2:135540147 | C | T | 1 | a0003c0003t0001g0037 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.-250+8514C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540147 | |||||||
| chr2:135540245 | C | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+8612C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540245 | |||||||
| chr2:135540367 | G | C | 1 | a0003c0003t0001g0011 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-250+8734G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540367 | |||||||
| chr2:135540465 | G | T | 63 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(60): Show |
63 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(60): Show |
intron_variant | MODIFIER | c.-250+8832G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540465 | |||||||
| chr2:135540568 | G | A | 1 | a0001c0001t0001g0067 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-250+8935G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540568 | |||||||
| chr2:135540574 | T | TTTTA | 3 | a0002c0002t0001g0062 a0002c0002t0001g0063 a0004c0004t0001g0064 |
3 | HG01069.hp2 HG01071.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.-250+8961_-250+896 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135540574 | ||||||
| chr2:135540607 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+8974C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540607 | |||||||
| chr2:135540739 | G | A | 1 | a0003c0003t0001g0191 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-250+9106G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540739 | |||||||
| chr2:135540997 | C | A | 5 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0144 others(2): Show |
5 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.-250+9364C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135540997 | |||||||
| chr2:135541050 | G | A | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.-250+9417G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541050 | |||||||
| chr2:135541169 | G | A | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-250+9536G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541169 | |||||||
| chr2:135541265 | A | G | 1 | a0003c0003t0001g0021 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.-250+9632A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541265 | |||||||
| chr2:135541347 | A | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+9714A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541347 | |||||||
| chr2:135541397 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+9764A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541397 | |||||||
| chr2:135541450 | A | C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+9817A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541450 | |||||||
| chr2:135541552 | G | A | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-250+9919G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541552 | |||||||
| chr2:135541681 | G | A | 1 | a0003c0003t0001g0021 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.-250+10048G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541681 | |||||||
| chr2:135541810 | G | A | 5 | a0001c0001t0001g0148 a0002c0002t0001g0145 a0002c0002t0001g0146 others(2): Show |
5 | NA18952.hp1 NA18962.hp1 NA19070.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+10177G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541810 | |||||||
| chr2:135541851 | T | TA | 11 | a0001c0001t0001g0107 a0002c0002t0001g0101 a0002c0002t0001g0108 others(8): Show |
11 | HG00735.hp1 HG01993.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.-250+10238dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135541851 | ||||||
| chr2:135541851 | TA | T | 37 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
37 | HG01192.hp1 HG01433.hp1 HG02055.hp1 others(34): Show |
intron_variant | MODIFIER | c.-250+10238delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135541851 | ||||||
| chr2:135541851 | TAA | T | 24 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(21): Show |
24 | HG00639.hp1 HG00735.hp2 HG01175.hp1 others(21): Show |
intron_variant | MODIFIER | c.-250+10237_-250+10 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135541851 | ||||||
| chr2:135541851 | TAAA | T | 9 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(6): Show |
9 | HG00558.hp2 HG00621.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.-250+10236_-250+10 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135541851 | ||||||
| chr2:135541866 | AAAAAAGA others(3): Show |
A | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.-250+10237_-250+10 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135541866 | ||||||
| chr2:135541868 | A | AAAG | 57 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(54): Show |
57 | HG00408.hp2 HG00741.hp1 HG01346.hp2 others(54): Show |
intron_variant | MODIFIER | c.-250+10237_-250+10 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135541868 | ||||||
| chr2:135541868 | A | G | 4 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(1): Show |
4 | HG01993.hp2 HG03130.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250+10235A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135541868 | |||||||
| chr2:135542008 | A | G | 1 | a0001c0001t0001g0045 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-250+10375A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542008 | |||||||
| chr2:135542433 | A | G | 1 | a0002c0002t0001g0164 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.-250+10800A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542433 | |||||||
| chr2:135542551 | T | C | 2 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-250+10918T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542551 | |||||||
| chr2:135542573 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+10940T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542573 | |||||||
| chr2:135542606 | T | C | 1 | a0003c0003t0001g0201 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.-250+10973T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542606 | |||||||
| chr2:135542670 | C | G | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-250+11037C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542670 | |||||||
| chr2:135542771 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+11138C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542771 | |||||||
| chr2:135542864 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+11231G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542864 | |||||||
| chr2:135542867 | T | TA | 4 | a0001c0001t0001g0226 a0009c0009t0001g0227 a0009c0009t0001g0228 others(1): Show |
4 | HG02896.hp2 HG02976.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-250+11235dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135542867 | ||||||
| chr2:135542883 | T | C | 1 | a0003c0003t0003g0039 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-250+11250T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542883 | |||||||
| chr2:135542984 | G | A | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+11351G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135542984 | |||||||
| chr2:135543072 | G | A | 4 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
4 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250+11439G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135543072 | |||||||
| chr2:135543419 | GT | G | 45 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(42): Show |
45 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.-250+11799delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135543419 | ||||||
| chr2:135543465 | A | T | 2 | a0003c0003t0001g0035 a0003c0003t0001g0036 |
2 | NA19058.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.-250+11832A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135543465 | |||||||
| chr2:135543529 | T | G | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-250+11896T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135543529 | |||||||
| chr2:135543722 | A | C | 7 | a0003c0003t0003g0030 a0003c0003t0003g0039 a0003c0003t0003g0040 others(4): Show |
7 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-250+12089A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135543722 | |||||||
| chr2:135544084 | A | G | 1 | a0003c0003t0001g0013 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-250+12451A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135544084 | |||||||
| chr2:135544726 | T | C | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-250+13093T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135544726 | |||||||
| chr2:135545327 | A | T | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-250+13694A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135545327 | |||||||
| chr2:135545352 | C | T | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-250+13719C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135545352 | |||||||
| chr2:135545388 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-250+13755G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135545388 | |||||||
| chr2:135545880 | G | A | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-250+14247G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135545880 | |||||||
| chr2:135546024 | G | C | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-250+14391G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135546024 | |||||||
| chr2:135546342 | C | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+14709C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135546342 | |||||||
| chr2:135546491 | C | G | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-250+14858C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135546491 | |||||||
| chr2:135546669 | GT | G | 4 | a0002c0002t0001g0188 a0002c0002t0001g0189 a0003c0003t0001g0190 others(1): Show |
4 | HG01433.hp2 HG01993.hp1 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.-250+15041delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135546669 | ||||||
| chr2:135546746 | A | G | 2 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | HG02559.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-250+15113A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135546746 | |||||||
| chr2:135546872 | A | T | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+15239A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135546872 | |||||||
| chr2:135546968 | A | G | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-250+15335A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135546968 | |||||||
| chr2:135547101 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+15468A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135547101 | |||||||
| chr2:135547239 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+15606G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135547239 | |||||||
| chr2:135547476 | CT | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
6 | HG00639.hp2 HG02559.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.-250+15857delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135547476 | ||||||
| chr2:135547767 | CT | C | 138 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(135): Show |
138 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(135): Show |
intron_variant | MODIFIER | c.-250+16155delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135547767 | ||||||
| chr2:135547767 | CTT | C | 5 | a0001c0001t0001g0018 a0001c0001t0001g0209 a0001c0001t0001g0210 others(2): Show |
5 | HG03017.hp1 HG03130.hp1 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.-250+16154_-250+16 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135547767 | ||||||
| chr2:135547822 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-250+16189A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135547822 | |||||||
| chr2:135548018 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+16385C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135548018 | |||||||
| chr2:135548040 | A | G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+16407A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135548040 | |||||||
| chr2:135548382 | G | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+16749G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135548382 | |||||||
| chr2:135548711 | A | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+17078A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135548711 | |||||||
| chr2:135548975 | A | G | 1 | a0006c0005t0001g0072 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-250+17342A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135548975 | |||||||
| chr2:135549131 | A | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+17498A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549131 | |||||||
| chr2:135549244 | T | C | 2 | a0001c0001t0001g0212 a0001c0001t0001g0213 |
2 | HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-250+17611T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549244 | |||||||
| chr2:135549297 | A | G | 1 | a0002c0002t0001g0141 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-250+17664A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549297 | |||||||
| chr2:135549298 | T | TA | 3 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0053 |
3 | HG02280.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-250+17667dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135549298 | ||||||
| chr2:135549320 | A | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-250+17687A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549320 | |||||||
| chr2:135549528 | TCC | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+17896_-250+17 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549528 | |||||||
| chr2:135549561 | C | CA | 26 | a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0089 others(23): Show |
26 | HG00621.hp1 HG01175.hp1 HG01175.hp2 others(23): Show |
intron_variant | MODIFIER | c.-250+17948dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135549561 | ||||||
| chr2:135549561 | C | CAA | 19 | a0001c0001t0001g0008 a0001c0001t0001g0212 a0001c0001t0001g0214 others(16): Show |
19 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.-250+17947_-250+17 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135549561 | ||||||
| chr2:135549561 | C | CAAA | 7 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(4): Show |
7 | HG02895.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.-250+17946_-250+17 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135549561 | ||||||
| chr2:135549576 | A | C | 1 | a0001c0001t0002g0149 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-250+17943A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549576 | |||||||
| chr2:135549577 | A | C | 1 | a0001c0001t0001g0071 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-250+17944A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549577 | |||||||
| chr2:135549578 | A | AG | 2 | a0001c0001t0001g0046 a0003c0003t0001g0032 |
2 | NA18947.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.-250+17945_-250+17 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549578 | |||||||
| chr2:135549578 | A | G | 62 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(59): Show |
62 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(59): Show |
intron_variant | MODIFIER | c.-250+17945A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549578 | |||||||
| chr2:135549581 | AC | A | 3 | a0001c0001t0001g0071 a0001c0001t0001g0079 a0006c0005t0006g0065 |
3 | HG02559.hp2 HG03239.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-250+17949delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549581 | |||||||
| chr2:135549582 | C | A | 79 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show |
79 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-250+17949C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549582 | |||||||
| chr2:135549588 | C | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+17955C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549588 | |||||||
| chr2:135549597 | G | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+17964G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549597 | |||||||
| chr2:135549618 | T | A | 1 | a0001c0001t0002g0102 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.-250+17985T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135549618 | |||||||
| chr2:135550037 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-250+18404C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135550037 | |||||||
| chr2:135550184 | T | C | 1 | a0003c0003t0003g0039 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-250+18551T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135550184 | |||||||
| chr2:135550586 | T | G | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-250+18953T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135550586 | |||||||
| chr2:135550985 | T | G | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+19352T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135550985 | |||||||
| chr2:135551040 | G | A | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.-250+19407G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551040 | |||||||
| chr2:135551109 | T | C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+19476T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551109 | |||||||
| chr2:135551288 | GC | G | 2 | a0005c0006t0003g0043 a0006c0005t0001g0042 |
2 | HG02056.hp2 HG02080.hp2 |
intron_variant | MODIFIER | c.-250+19656delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551288 | |||||||
| chr2:135551486 | G | GA | 35 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(32): Show |
35 | HG00408.hp2 HG01243.hp2 HG01346.hp2 others(32): Show |
intron_variant | MODIFIER | c.-250+19862dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135551486 | ||||||
| chr2:135551610 | A | C | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+19977A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551610 | |||||||
| chr2:135551669 | G | C | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-250+20036G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551669 | |||||||
| chr2:135551738 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+20105G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551738 | |||||||
| chr2:135551896 | T | C | 2 | a0003c0003t0001g0060 a0003c0003t0001g0061 |
2 | HG03491.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-250+20263T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551896 | |||||||
| chr2:135551982 | T | C | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+20349T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135551982 | |||||||
| chr2:135552183 | A | AC | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-250+20550_-250+20 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135552183 | |||||||
| chr2:135552192 | T | C | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-250+20559T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135552192 | |||||||
| chr2:135552193 | CT | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+20566delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135552193 | ||||||
| chr2:135552209 | G | A | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+20576G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135552209 | |||||||
| chr2:135552719 | A | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+21086A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135552719 | |||||||
| chr2:135552742 | T | C | 1 | a0003c0003t0003g0040 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-250+21109T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135552742 | |||||||
| chr2:135553015 | A | T | 1 | a0003c0003t0001g0061 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.-250+21382A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135553015 | |||||||
| chr2:135553145 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+21512C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135553145 | |||||||
| chr2:135553233 | G | C | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-250+21600G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135553233 | |||||||
| chr2:135553354 | G | A | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+21721G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135553354 | |||||||
| chr2:135553565 | TAAG | T | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-250+21936_-250+21 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135553565 | ||||||
| chr2:135553849 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+22216C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135553849 | |||||||
| chr2:135553981 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-250+22348C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135553981 | |||||||
| chr2:135554108 | A | G | 1 | a0002c0002t0001g0100 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-250+22475A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135554108 | |||||||
| chr2:135554297 | A | T | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+22664A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135554297 | |||||||
| chr2:135554658 | T | C | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+23025T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135554658 | |||||||
| chr2:135554659 | A | T | 1 | a0001c0001t0004g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-250+23026A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135554659 | |||||||
| chr2:135554715 | G | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+23082G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135554715 | |||||||
| chr2:135554972 | A | T | 1 | a0001c0001t0001g0099 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-250+23339A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135554972 | |||||||
| chr2:135555016 | A | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+23383A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555016 | |||||||
| chr2:135555028 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+23395G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555028 | |||||||
| chr2:135555032 | T | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+23399T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555032 | |||||||
| chr2:135555083 | C | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+23450C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555083 | |||||||
| chr2:135555083 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+23450C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555083 | |||||||
| chr2:135555093 | A | C | 5 | a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 others(2): Show |
5 | HG00558.hp2 HG00621.hp2 NA18747.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+23460A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555093 | |||||||
| chr2:135555189 | A | G | 2 | a0001c0001t0001g0038 a0003c0003t0001g0013 |
2 | HG00408.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.-250+23556A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555189 | |||||||
| chr2:135555190 | C | A | 2 | a0001c0001t0001g0038 a0003c0003t0001g0013 |
2 | HG00408.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.-250+23557C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555190 | |||||||
| chr2:135555296 | C | CA | 36 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(33): Show |
36 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(33): Show |
intron_variant | MODIFIER | c.-250+23680dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135555296 | ||||||
| chr2:135555296 | CA | C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+23680delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135555296 | ||||||
| chr2:135555339 | C | T | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+23706C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555339 | |||||||
| chr2:135555444 | A | T | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-250+23811A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555444 | |||||||
| chr2:135555631 | A | G | 5 | a0002c0002t0001g0056 a0002c0002t0001g0058 a0009c0009t0001g0227 others(2): Show |
5 | HG02896.hp2 HG02976.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+23998A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555631 | |||||||
| chr2:135555674 | A | G | 1 | a0002c0002t0001g0187 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-250+24041A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555674 | |||||||
| chr2:135555706 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+24073A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555706 | |||||||
| chr2:135555732 | C | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+24099C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555732 | |||||||
| chr2:135555752 | C | T | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250+24119C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135555752 | |||||||
| chr2:135556032 | G | A | 1 | a0001c0001t0002g0120 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.-250+24399G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556032 | |||||||
| chr2:135556069 | C | T | 48 | a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0173 others(45): Show |
48 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.-250+24436C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556069 | |||||||
| chr2:135556315 | C | T | 40 | a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0173 others(37): Show |
40 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(37): Show |
intron_variant | MODIFIER | c.-250+24682C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556315 | |||||||
| chr2:135556448 | T | G | 1 | a0001c0001t0001g0079 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-250+24815T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556448 | |||||||
| chr2:135556750 | C | A | 5 | a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 others(2): Show |
5 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+25117C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556750 | |||||||
| chr2:135556782 | T | C | 1 | a0002c0002t0001g0118 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.-250+25149T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556782 | |||||||
| chr2:135556814 | A | G | 26 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show |
26 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-250+25181A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135556814 | |||||||
| chr2:135557352 | ACT | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+25722_-250+25 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135557352 | ||||||
| chr2:135557506 | A | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+25873A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135557506 | |||||||
| chr2:135557679 | C | T | 1 | a0002c0002t0001g0028 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-250+26046C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135557679 | |||||||
| chr2:135557891 | T | C | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.-250+26258T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135557891 | |||||||
| chr2:135557979 | GC | G | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-250+26349delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135557979 | ||||||
| chr2:135558071 | C | T | 1 | a0001c0001t0001g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-250+26438C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135558071 | |||||||
| chr2:135558345 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-250+26712G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135558345 | |||||||
| chr2:135558362 | A | C | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+26729A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135558362 | |||||||
| chr2:135558428 | A | G | 1 | a0003c0003t0001g0190 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-250+26795A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135558428 | |||||||
| chr2:135558499 | T | TTA | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+26868_-250+26 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135558499 | ||||||
| chr2:135559049 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+27416A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559049 | |||||||
| chr2:135559050 | A | AGT | 78 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(75): Show |
78 | HG00408.hp1 HG00558.hp1 HG00735.hp1 others(75): Show |
intron_variant | MODIFIER | c.-250+27459_-250+27 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | A | AGTGT | 20 | a0001c0001t0001g0090 a0001c0001t0001g0220 a0002c0002t0001g0056 others(17): Show |
20 | HG01192.hp2 HG01346.hp2 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.-250+27457_-250+27 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | A | AGTGTGT | 7 | a0001c0001t0001g0221 a0001c0001t0002g0129 a0002c0002t0001g0168 others(4): Show |
7 | HG01433.hp2 HG02280.hp1 HG04115.hp2 others(4): Show |
intron_variant | MODIFIER | c.-250+27455_-250+27 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | A | AGTGTGTG others(1): Show |
5 | a0002c0002t0001g0151 a0002c0002t0001g0186 a0002c0002t0001g0187 others(2): Show |
5 | HG02451.hp1 HG02451.hp2 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+27453_-250+27 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | A | AGTGTGTG others(3): Show |
1 | a0002c0002t0001g0141 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-250+27451_-250+27 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | A | AGTGTGTG others(5): Show |
1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-250+27449_-250+27 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | A | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+27417A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559050 | |||||||
| chr2:135559050 | AGT | A | 21 | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0078 others(18): Show |
21 | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.-250+27459_-250+27 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | AGTGT | A | 29 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(26): Show |
29 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-250+27457_-250+27 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | AGTGTGT | A | 7 | a0001c0001t0001g0075 a0001c0001t0001g0206 a0001c0001t0001g0207 others(4): Show |
7 | HG01884.hp1 HG01928.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-250+27455_-250+27 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | AGTGTGTG others(3): Show |
A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0008g0205 |
3 | HG01243.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-250+27451_-250+27 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559050 | AGTGTGTG others(7): Show |
A | 2 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | HG02809.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-250+27447_-250+27 others(20): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559050 | ||||||
| chr2:135559084 | T | TGTGCGCA others(3): Show |
2 | a0001c0001t0001g0005 a0001c0001t0001g0007 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-250+27454_-250+27 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559084 | ||||||
| chr2:135559088 | T | C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+27455T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559088 | |||||||
| chr2:135559090 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+27457T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559090 | |||||||
| chr2:135559092 | T | C | 4 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(1): Show |
4 | HG02895.hp2 HG02897.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.-250+27459T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559092 | |||||||
| chr2:135559092 | T | TGCGCATG others(9): Show |
2 | a0001c0001t0001g0004 a0001c0001t0001g0006 |
2 | HG03195.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-250+27461_-250+27 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135559092 | ||||||
| chr2:135559118 | T | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+27485T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559118 | |||||||
| chr2:135559222 | C | G | 1 | a0002c0002t0001g0028 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-250+27589C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559222 | |||||||
| chr2:135559457 | T | C | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-250+27824T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559457 | |||||||
| chr2:135559594 | T | C | 2 | a0002c0002t0001g0162 a0008c0008t0001g0169 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.-250+27961T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559594 | |||||||
| chr2:135559635 | A | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+28002A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559635 | |||||||
| chr2:135559926 | AG | A | 8 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(5): Show |
8 | HG02622.hp2 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.-250+28294delG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559926 | |||||||
| chr2:135559965 | G | A | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-250+28332G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559965 | |||||||
| chr2:135559972 | T | A | 1 | a0007c0007t0001g0180 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-250+28339T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135559972 | |||||||
| chr2:135560356 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+28723T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560356 | |||||||
| chr2:135560384 | C | A | 1 | a0003c0003t0001g0204 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-250+28751C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560384 | |||||||
| chr2:135560396 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+28763A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560396 | |||||||
| chr2:135560555 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+28922G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560555 | |||||||
| chr2:135560729 | G | A | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250+29096G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560729 | |||||||
| chr2:135560845 | A | G | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.-250+29212A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560845 | |||||||
| chr2:135560875 | G | A | 26 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show |
26 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-250+29242G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135560875 | |||||||
| chr2:135561346 | T | C | 1 | a0002c0002t0001g0187 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-250+29713T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135561346 | |||||||
| chr2:135561460 | A | C | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-250+29827A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135561460 | |||||||
| chr2:135561492 | G | A | 2 | a0003c0003t0003g0030 a0003c0003t0003g0040 |
2 | HG01978.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.-250+29859G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135561492 | |||||||
| chr2:135561622 | T | A | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+29989T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135561622 | |||||||
| chr2:135561724 | CA | C | 28 | a0001c0001t0001g0052 a0001c0001t0001g0206 a0001c0001t0001g0207 others(25): Show |
28 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(25): Show |
intron_variant | MODIFIER | c.-250+30101delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135561724 | ||||||
| chr2:135561838 | G | GA | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+30212dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135561838 | ||||||
| chr2:135561877 | C | T | 1 | a0001c0001t0001g0098 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-250+30244C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135561877 | |||||||
| chr2:135561936 | C | A | 2 | a0003c0003t0001g0035 a0003c0003t0001g0036 |
2 | NA19058.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.-250+30303C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135561936 | |||||||
| chr2:135562067 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-250+30434T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135562067 | |||||||
| chr2:135562294 | A | G | 2 | a0003c0003t0001g0200 a0003c0003t0001g0203 |
2 | NA18979.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.-250+30661A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135562294 | |||||||
| chr2:135562301 | A | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+30668A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135562301 | |||||||
| chr2:135562306 | A | G | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-250+30673A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135562306 | |||||||
| chr2:135562766 | A | G | 2 | a0003c0003t0001g0024 a0003c0003t0001g0053 |
2 | HG02280.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.-250+31133A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135562766 | |||||||
| chr2:135562823 | C | T | 1 | a0001c0001t0002g0120 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.-250+31190C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135562823 | |||||||
| chr2:135563003 | G | C | 1 | a0001c0001t0001g0078 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-250+31370G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563003 | |||||||
| chr2:135563228 | G | C | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-250+31595G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563228 | |||||||
| chr2:135563494 | A | G | 1 | a0011c0012t0001g0219 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-250+31861A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563494 | |||||||
| chr2:135563627 | C | T | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-250+31994C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563627 | |||||||
| chr2:135563650 | G | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-250+32017G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563650 | |||||||
| chr2:135563921 | A | T | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-250+32288A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563921 | |||||||
| chr2:135563964 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-250+32331G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135563964 | |||||||
| chr2:135564100 | C | T | 2 | a0002c0002t0001g0140 a0002c0002t0001g0179 |
2 | HG01993.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.-250+32467C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564100 | |||||||
| chr2:135564133 | A | C | 1 | a0001c0001t0001g0221 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-250+32500A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564133 | |||||||
| chr2:135564236 | G | C | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.-250+32603G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564236 | |||||||
| chr2:135564359 | G | A | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+32726G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564359 | |||||||
| chr2:135564375 | A | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-250+32742A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564375 | |||||||
| chr2:135564381 | A | G | 140 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(137): Show |
140 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(137): Show |
intron_variant | MODIFIER | c.-250+32748A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564381 | |||||||
| chr2:135564429 | C | G | 1 | a0001c0001t0001g0057 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.-250+32796C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564429 | |||||||
| chr2:135564463 | G | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-250+32830G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564463 | |||||||
| chr2:135564571 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+32938C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564571 | |||||||
| chr2:135564684 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+33051T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564684 | |||||||
| chr2:135564902 | A | G | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-250+33269A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135564902 | |||||||
| chr2:135565106 | G | T | 217 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(214): Show |
217 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(214): Show |
intron_variant | MODIFIER | c.-250+33473G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565106 | |||||||
| chr2:135565279 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+33646T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565279 | |||||||
| chr2:135565310 | C | A | 1 | a0003c0003t0001g0034 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-250+33677C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565310 | |||||||
| chr2:135565322 | A | AATT | 39 | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 others(36): Show |
39 | HG00621.hp1 HG01175.hp2 HG01192.hp2 others(36): Show |
intron_variant | MODIFIER | c.-250+33729_-250+33 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135565322 | ||||||
| chr2:135565322 | AATT | A | 57 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(54): Show |
57 | HG00639.hp2 HG00741.hp1 HG01192.hp1 others(54): Show |
intron_variant | MODIFIER | c.-250+33729_-250+33 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135565322 | ||||||
| chr2:135565322 | AATTATT | A | 29 | a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0068 others(26): Show |
29 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.-250+33726_-250+33 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135565322 | ||||||
| chr2:135565322 | AATTATTA others(2): Show |
A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-250+33723_-250+33 others(15): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135565322 | ||||||
| chr2:135565322 | AATTATTA others(5): Show |
A | 1 | a0001c0001t0002g0129 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.-250+33720_-250+33 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135565322 | ||||||
| chr2:135565362 | A | T | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-250+33729A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565362 | |||||||
| chr2:135565422 | G | A | 3 | a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 |
3 | NA18972.hp2 NA18982.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.-250+33789G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565422 | |||||||
| chr2:135565534 | C | T | 2 | a0002c0002t0001g0186 a0002c0002t0001g0187 |
2 | HG02451.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-250+33901C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565534 | |||||||
| chr2:135565751 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-250+34118A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565751 | |||||||
| chr2:135565814 | T | C | 1 | a0001c0001t0001g0136 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-250+34181T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135565814 | |||||||
| chr2:135566217 | G | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-250+34584G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566217 | |||||||
| chr2:135566269 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-250+34636G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566269 | |||||||
| chr2:135566292 | G | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-250+34659G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566292 | |||||||
| chr2:135566392 | G | C | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-250+34759G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566392 | |||||||
| chr2:135566557 | A | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-250+34924A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566557 | |||||||
| chr2:135566655 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-250+35022A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566655 | |||||||
| chr2:135566819 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-250+35186G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566819 | |||||||
| chr2:135566841 | G | A | 1 | a0005c0006t0001g0126 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.-250+35208G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566841 | |||||||
| chr2:135566895 | T | C | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-250+35262T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566895 | |||||||
| chr2:135566901 | G | A | 2 | a0003c0003t0003g0030 a0003c0003t0003g0040 |
2 | HG01978.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.-250+35268G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566901 | |||||||
| chr2:135566954 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-250+35321C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566954 | |||||||
| chr2:135566973 | A | G | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-250+35340A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566973 | |||||||
| chr2:135566994 | G | A | 140 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(137): Show |
140 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(137): Show |
intron_variant | MODIFIER | c.-250+35361G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135566994 | |||||||
| chr2:135567050 | C | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+35417C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567050 | |||||||
| chr2:135567051 | G | A | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-250+35418G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567051 | |||||||
| chr2:135567088 | A | G | 2 | a0003c0003t0001g0035 a0003c0003t0001g0036 |
2 | NA19058.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.-249-35412A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567088 | |||||||
| chr2:135567198 | A | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-35302A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567198 | |||||||
| chr2:135567305 | A | G | 2 | a0003c0003t0001g0200 a0003c0003t0001g0203 |
2 | NA18979.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.-249-35195A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567305 | |||||||
| chr2:135567479 | C | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-35021C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567479 | |||||||
| chr2:135567617 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-34883A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567617 | |||||||
| chr2:135567903 | C | CT | 61 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show |
61 | HG00621.hp2 HG00639.hp2 HG00741.hp1 others(58): Show |
intron_variant | MODIFIER | c.-249-34573dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135567903 | ||||||
| chr2:135567903 | C | CTT | 10 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show |
10 | HG02055.hp1 HG02109.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.-249-34574_-249-34 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135567903 | ||||||
| chr2:135567904 | T | C | 2 | a0002c0002t0001g0140 a0002c0002t0001g0179 |
2 | HG01993.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.-249-34596T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135567904 | |||||||
| chr2:135568236 | T | C | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-249-34264T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568236 | |||||||
| chr2:135568342 | C | T | 1 | a0001c0001t0007g0019 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-249-34158C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568342 | |||||||
| chr2:135568375 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-249-34125G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568375 | |||||||
| chr2:135568420 | G | A | 1 | a0003c0003t0001g0032 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-249-34080G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568420 | |||||||
| chr2:135568441 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-34059G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568441 | |||||||
| chr2:135568622 | T | C | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-33878T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568622 | |||||||
| chr2:135568883 | A | G | 2 | a0001c0001t0001g0207 a0001c0001t0001g0208 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-249-33617A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135568883 | |||||||
| chr2:135569195 | G | A | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-249-33305G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569195 | |||||||
| chr2:135569251 | G | A | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-33249G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569251 | |||||||
| chr2:135569256 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-33244G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569256 | |||||||
| chr2:135569626 | A | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-32874A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569626 | |||||||
| chr2:135569642 | C | T | 1 | a0006c0005t0001g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-249-32858C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569642 | |||||||
| chr2:135569676 | C | T | 1 | a0012c0011t0001g0229 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-249-32824C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569676 | |||||||
| chr2:135569718 | C | CT | 5 | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show |
5 | HG02257.hp1 HG02897.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-32772dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135569718 | ||||||
| chr2:135569718 | C | CTTT | 18 | a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 others(15): Show |
18 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.-249-32774_-249-32 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135569718 | ||||||
| chr2:135569726 | T | G | 7 | a0001c0001t0002g0102 a0002c0002t0001g0159 a0002c0002t0001g0160 others(4): Show |
7 | HG00621.hp1 HG01943.hp1 NA18967.hp2 others(4): Show |
intron_variant | MODIFIER | c.-249-32774T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569726 | |||||||
| chr2:135569727 | T | G | 1 | a0006c0005t0006g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-249-32773T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569727 | |||||||
| chr2:135569727 | TTG | T | 18 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(15): Show |
18 | HG02257.hp2 HG02258.hp2 HG03017.hp1 others(15): Show |
intron_variant | MODIFIER | c.-249-32771_-249-32 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135569727 | ||||||
| chr2:135569728 | TG | T | 74 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(71): Show |
74 | HG00408.hp2 HG00558.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.-249-32771delG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569728 | |||||||
| chr2:135569729 | G | T | 48 | a0001c0001t0001g0003 a0001c0001t0001g0093 a0001c0001t0001g0096 others(45): Show |
48 | HG00621.hp2 HG00741.hp1 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.-249-32771G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569729 | |||||||
| chr2:135569731 | T | G | 7 | a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 others(4): Show |
7 | HG01433.hp2 HG01993.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.-249-32769T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569731 | |||||||
| chr2:135569732 | G | T | 140 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(137): Show |
140 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(137): Show |
intron_variant | MODIFIER | c.-249-32768G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569732 | |||||||
| chr2:135569735 | G | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-249-32765G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569735 | |||||||
| chr2:135569738 | T | G | 1 | a0001c0001t0001g0107 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.-249-32762T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569738 | |||||||
| chr2:135569800 | C | G | 3 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0053 |
3 | HG02280.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-249-32700C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569800 | |||||||
| chr2:135569852 | G | C | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-32648G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569852 | |||||||
| chr2:135569926 | A | G | 1 | a0002c0002t0001g0141 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-249-32574A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135569926 | |||||||
| chr2:135570002 | A | G | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-249-32498A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570002 | |||||||
| chr2:135570022 | G | A | 2 | a0001c0001t0002g0119 a0005c0006t0001g0126 |
2 | NA18947.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.-249-32478G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570022 | |||||||
| chr2:135570031 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-32469G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570031 | |||||||
| chr2:135570132 | A | G | 1 | a0003c0003t0001g0025 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.-249-32368A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570132 | |||||||
| chr2:135570185 | A | C | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-249-32315A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570185 | |||||||
| chr2:135570496 | G | A | 1 | a0006c0005t0001g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-249-32004G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570496 | |||||||
| chr2:135570636 | G | A | 1 | a0002c0002t0001g0141 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-249-31864G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570636 | |||||||
| chr2:135570652 | C | G | 1 | a0001c0001t0001g0156 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-249-31848C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135570652 | |||||||
| chr2:135571087 | G | A | 1 | a0001c0001t0007g0019 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-249-31413G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571087 | |||||||
| chr2:135571313 | T | A | 1 | a0006c0005t0001g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-249-31187T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571313 | |||||||
| chr2:135571320 | A | T | 219 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(216): Show |
219 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(216): Show |
intron_variant | MODIFIER | c.-249-31180A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571320 | |||||||
| chr2:135571546 | G | A | 1 | a0002c0002t0001g0028 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-249-30954G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571546 | |||||||
| chr2:135571606 | G | A | 1 | a0002c0002t0001g0187 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-249-30894G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571606 | |||||||
| chr2:135571622 | G | A | 1 | a0001c0001t0001g0057 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.-249-30878G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571622 | |||||||
| chr2:135571691 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-249-30809A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571691 | |||||||
| chr2:135571728 | G | C | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-249-30772G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571728 | |||||||
| chr2:135571930 | G | C | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-249-30570G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135571930 | |||||||
| chr2:135571989 | GCACCACG others(5): Show |
G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-249-30508_-249-30 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135571989 | ||||||
| chr2:135572003 | A | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-249-30497A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572003 | |||||||
| chr2:135572048 | C | T | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-249-30452C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572048 | |||||||
| chr2:135572168 | G | A | 11 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show |
11 | HG01175.hp1 HG01884.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.-249-30332G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572168 | |||||||
| chr2:135572230 | C | T | 1 | a0001c0001t0001g0230 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-249-30270C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572230 | |||||||
| chr2:135572301 | T | C | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-30199T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572301 | |||||||
| chr2:135572316 | T | G | 1 | a0003c0003t0001g0204 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-249-30184T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572316 | |||||||
| chr2:135572370 | A | G | 1 | a0002c0002t0001g0161 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-249-30130A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572370 | |||||||
| chr2:135572561 | A | G | 7 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.-249-29939A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572561 | |||||||
| chr2:135572735 | TAATC | T | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-249-29761_-249-29 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135572735 | ||||||
| chr2:135572988 | G | A | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-29512G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135572988 | |||||||
| chr2:135573145 | A | G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-29355A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135573145 | |||||||
| chr2:135573200 | T | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-29300T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135573200 | |||||||
| chr2:135573480 | A | G | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-249-29020A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135573480 | |||||||
| chr2:135573660 | TA | T | 11 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show |
11 | HG01175.hp1 HG01884.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.-249-28838delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135573660 | ||||||
| chr2:135573782 | C | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-28718C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135573782 | |||||||
| chr2:135573786 | C | G | 1 | a0001c0001t0001g0076 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-249-28714C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135573786 | |||||||
| chr2:135573865 | A | G | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-28635A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135573865 | |||||||
| chr2:135574087 | A | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-249-28413A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135574087 | |||||||
| chr2:135574154 | T | G | 1 | a0002c0002t0001g0179 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-249-28346T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135574154 | |||||||
| chr2:135574546 | A | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-27954A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135574546 | |||||||
| chr2:135574736 | C | G | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-249-27764C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135574736 | |||||||
| chr2:135574982 | C | T | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-27518C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135574982 | |||||||
| chr2:135575334 | C | T | 1 | a0002c0002t0001g0151 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-249-27166C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135575334 | |||||||
| chr2:135575391 | A | G | 1 | a0002c0002t0001g0137 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-249-27109A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135575391 | |||||||
| chr2:135575535 | T | C | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-26965T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135575535 | |||||||
| chr2:135575730 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-249-26770A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135575730 | |||||||
| chr2:135576018 | T | C | 1 | a0007c0007t0001g0185 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.-249-26482T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135576018 | |||||||
| chr2:135576307 | A | G | 1 | a0003c0003t0001g0037 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.-249-26193A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135576307 | |||||||
| chr2:135576322 | T | C | 2 | a0002c0002t0001g0056 a0002c0002t0001g0058 |
2 | HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-249-26178T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135576322 | |||||||
| chr2:135576366 | C | G | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-249-26134C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135576366 | |||||||
| chr2:135576529 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-25971A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135576529 | |||||||
| chr2:135577044 | GA | G | 7 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(4): Show |
7 | HG02056.hp1 HG02895.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.-249-25444delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577044 | ||||||
| chr2:135577058 | C | T | 1 | a0005c0006t0001g0022 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-249-25442C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135577058 | |||||||
| chr2:135577154 | A | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-25346A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135577154 | |||||||
| chr2:135577207 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-249-25293G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135577207 | |||||||
| chr2:135577414 | C | CA | 12 | a0001c0001t0001g0156 a0002c0002t0001g0141 a0002c0002t0001g0151 others(9): Show |
12 | HG01981.hp1 HG03471.hp1 HG03471.hp2 others(9): Show |
intron_variant | MODIFIER | c.-249-25060dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577414 | ||||||
| chr2:135577414 | CA | C | 56 | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 others(53): Show |
56 | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.-249-25060delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577414 | ||||||
| chr2:135577414 | CAA | C | 67 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(64): Show |
67 | HG00408.hp2 HG01192.hp1 HG01256.hp2 others(64): Show |
intron_variant | MODIFIER | c.-249-25061_-249-25 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577414 | ||||||
| chr2:135577414 | CAAA | C | 5 | a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0008g0205 others(2): Show |
5 | HG01243.hp2 HG03130.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.-249-25062_-249-25 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577414 | ||||||
| chr2:135577414 | CAAAAA | C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-249-25064_-249-25 others(11): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577414 | ||||||
| chr2:135577432 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-25068A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135577432 | |||||||
| chr2:135577838 | CA | C | 100 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show |
100 | HG00408.hp2 HG01192.hp1 HG01243.hp2 others(97): Show |
intron_variant | MODIFIER | c.-249-24641delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135577838 | ||||||
| chr2:135578325 | A | G | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-249-24175A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135578325 | |||||||
| chr2:135578565 | T | A | 1 | a0007c0007t0001g0180 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-249-23935T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135578565 | |||||||
| chr2:135579147 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-249-23353G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579147 | |||||||
| chr2:135579259 | T | C | 3 | a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 |
3 | HG02055.hp1 HG02965.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-249-23241T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579259 | |||||||
| chr2:135579595 | C | CG | 17 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
17 | HG00558.hp2 HG02145.hp2 HG02895.hp2 others(14): Show |
intron_variant | MODIFIER | c.-249-22896dupG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135579595 | ||||||
| chr2:135579600 | G | GGT | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.-249-22899_-249-22 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135579600 | ||||||
| chr2:135579601 | G | C | 2 | a0004c0004t0001g0121 a0004c0004t0001g0122 |
2 | HG01928.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.-249-22899G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579601 | |||||||
| chr2:135579605 | T | G | 30 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(27): Show |
30 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-249-22895T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579605 | |||||||
| chr2:135579726 | A | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-249-22774A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579726 | |||||||
| chr2:135579836 | A | T | 3 | a0002c0002t0001g0158 a0002c0002t0001g0165 a0002c0002t0001g0177 |
3 | NA18939.hp1 NA18941.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.-249-22664A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579836 | |||||||
| chr2:135579878 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-249-22622G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579878 | |||||||
| chr2:135579889 | A | G | 3 | a0003c0003t0001g0031 a0003c0003t0001g0054 a0003c0003t0001g0059 |
3 | NA18939.hp2 NA18959.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.-249-22611A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579889 | |||||||
| chr2:135579936 | C | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-22564C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579936 | |||||||
| chr2:135579996 | G | A | 1 | a0001c0001t0001g0156 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-249-22504G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135579996 | |||||||
| chr2:135580114 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-22386G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580114 | |||||||
| chr2:135580211 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-22289A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580211 | |||||||
| chr2:135580222 | A | G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-22278A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580222 | |||||||
| chr2:135580304 | C | T | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-22196C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580304 | |||||||
| chr2:135580433 | G | T | 1 | a0001c0001t0002g0102 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.-249-22067G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580433 | |||||||
| chr2:135580633 | T | C | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-21867T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580633 | |||||||
| chr2:135580775 | A | T | 1 | a0001c0001t0001g0211 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-249-21725A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135580775 | |||||||
| chr2:135581135 | G | A | 1 | a0002c0002t0001g0137 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-249-21365G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581135 | |||||||
| chr2:135581510 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-20990C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581510 | |||||||
| chr2:135581516 | T | C | 1 | a0006c0005t0001g0072 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-249-20984T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581516 | |||||||
| chr2:135581608 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-20892G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581608 | |||||||
| chr2:135581842 | C | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-20658C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581842 | |||||||
| chr2:135581964 | A | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-20536A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581964 | |||||||
| chr2:135581982 | T | C | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-20518T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135581982 | |||||||
| chr2:135582070 | G | A | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-249-20430G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582070 | |||||||
| chr2:135582256 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-20244G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582256 | |||||||
| chr2:135582275 | G | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-20225G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582275 | |||||||
| chr2:135582380 | A | G | 1 | a0002c0002t0001g0150 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-249-20120A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582380 | |||||||
| chr2:135582583 | G | A | 2 | a0002c0002t0001g0174 a0002c0002t0001g0178 |
2 | NA18967.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.-249-19917G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582583 | |||||||
| chr2:135582805 | CT | C | 7 | a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0108 others(4): Show |
7 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.-249-19694delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582805 | |||||||
| chr2:135582872 | A | G | 3 | a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 |
3 | HG02055.hp1 HG02965.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-249-19628A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135582872 | |||||||
| chr2:135583155 | C | A | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-19345C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583155 | |||||||
| chr2:135583247 | T | C | 26 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show |
26 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-249-19253T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583247 | |||||||
| chr2:135583404 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-19096G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583404 | |||||||
| chr2:135583561 | T | C | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.-249-18939T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583561 | |||||||
| chr2:135583652 | C | T | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-249-18848C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583652 | |||||||
| chr2:135583741 | T | C | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-249-18759T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583741 | |||||||
| chr2:135583747 | C | T | 1 | a0008c0008t0001g0163 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.-249-18753C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583747 | |||||||
| chr2:135583777 | C | T | 2 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-249-18723C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135583777 | |||||||
| chr2:135584205 | G | A | 1 | a0001c0001t0001g0018 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-249-18295G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135584205 | |||||||
| chr2:135584804 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-17696T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135584804 | |||||||
| chr2:135584979 | C | A | 2 | a0003c0003t0001g0026 a0005c0006t0001g0022 |
2 | HG04115.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-249-17521C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135584979 | |||||||
| chr2:135585230 | G | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-249-17270G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135585230 | |||||||
| chr2:135585831 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-16669T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135585831 | |||||||
| chr2:135585995 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-16505G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135585995 | |||||||
| chr2:135586145 | C | T | 3 | a0002c0002t0001g0028 a0003c0003t0001g0027 a0003c0003t0001g0037 |
3 | HG04184.hp1 NA18941.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-249-16355C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135586145 | |||||||
| chr2:135586592 | T | A | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-249-15908T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135586592 | |||||||
| chr2:135587145 | G | A | 1 | a0002c0002t0001g0135 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-249-15355G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135587145 | |||||||
| chr2:135587353 | A | AT | 7 | a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 others(4): Show |
7 | HG01433.hp2 HG01993.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.-249-15146dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135587353 | ||||||
| chr2:135587468 | G | A | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-15032G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135587468 | |||||||
| chr2:135587786 | A | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-249-14714A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135587786 | |||||||
| chr2:135587827 | T | C | 2 | a0004c0004t0001g0121 a0004c0004t0001g0122 |
2 | HG01928.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.-249-14673T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135587827 | |||||||
| chr2:135587947 | T | C | 1 | a0002c0002t0001g0176 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-249-14553T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135587947 | |||||||
| chr2:135588034 | ATC | A | 11 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show |
11 | HG01175.hp1 HG01884.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.-249-14450_-249-14 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135588034 | ||||||
| chr2:135588682 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-13818G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135588682 | |||||||
| chr2:135589273 | A | C | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-249-13227A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135589273 | |||||||
| chr2:135589458 | C | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-13042C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135589458 | |||||||
| chr2:135589569 | C | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-12931C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135589569 | |||||||
| chr2:135589671 | G | A | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-249-12829G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135589671 | |||||||
| chr2:135589793 | G | GA | 2 | a0001c0001t0001g0038 a0003c0003t0001g0013 |
2 | HG00408.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.-249-12706dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135589793 | ||||||
| chr2:135590196 | G | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0184 |
2 | NA18999.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-249-12304G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590196 | |||||||
| chr2:135590349 | T | C | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-249-12151T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590349 | |||||||
| chr2:135590429 | C | T | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-249-12071C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590429 | |||||||
| chr2:135590458 | A | G | 2 | a0005c0006t0003g0043 a0006c0005t0001g0042 |
2 | HG02056.hp2 HG02080.hp2 |
intron_variant | MODIFIER | c.-249-12042A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590458 | |||||||
| chr2:135590755 | A | G | 1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.-249-11745A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590755 | |||||||
| chr2:135590782 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-249-11718G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590782 | |||||||
| chr2:135590839 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-249-11661T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135590839 | |||||||
| chr2:135591069 | CAG | C | 2 | a0003c0003t0001g0035 a0003c0003t0001g0036 |
2 | NA19058.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.-249-11429_-249-11 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135591069 | ||||||
| chr2:135591132 | T | C | 26 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(23): Show |
26 | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(23): Show |
intron_variant | MODIFIER | c.-249-11368T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135591132 | |||||||
| chr2:135591209 | A | G | 1 | a0002c0002t0001g0009 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.-249-11291A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135591209 | |||||||
| chr2:135591394 | T | C | 26 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(23): Show |
26 | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(23): Show |
intron_variant | MODIFIER | c.-249-11106T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135591394 | |||||||
| chr2:135592141 | T | A | 2 | a0002c0002t0001g0100 a0002c0002t0001g0118 |
2 | HG03669.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.-249-10359T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592141 | |||||||
| chr2:135592215 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-10285T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592215 | |||||||
| chr2:135592292 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-10208G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592292 | |||||||
| chr2:135592319 | C | T | 1 | a0001c0001t0001g0045 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-249-10181C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592319 | |||||||
| chr2:135592321 | C | T | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-10179C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592321 | |||||||
| chr2:135592338 | A | G | 1 | a0001c0001t0001g0081 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-249-10162A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592338 | |||||||
| chr2:135592519 | G | T | 132 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(129): Show |
132 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(129): Show |
intron_variant | MODIFIER | c.-249-9981G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592519 | |||||||
| chr2:135592696 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-9804C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592696 | |||||||
| chr2:135592887 | G | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0095 a0010c0010t0001g0094 |
3 | HG00639.hp2 HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.-249-9613G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135592887 | |||||||
| chr2:135593541 | A | C | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-8959A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593541 | |||||||
| chr2:135593608 | A | G | 1 | a0001c0001t0001g0057 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.-249-8892A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593608 | |||||||
| chr2:135593631 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-8869T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593631 | |||||||
| chr2:135593743 | C | CG | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-8755dupG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135593743 | ||||||
| chr2:135593757 | A | G | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-249-8743A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593757 | |||||||
| chr2:135593824 | G | A | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-249-8676G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593824 | |||||||
| chr2:135593834 | C | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-249-8666C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593834 | |||||||
| chr2:135593900 | A | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-8600A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593900 | |||||||
| chr2:135593920 | A | G | 1 | a0008c0008t0001g0163 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.-249-8580A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593920 | |||||||
| chr2:135593962 | C | T | 1 | a0001c0001t0002g0149 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-249-8538C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135593962 | |||||||
| chr2:135594538 | C | T | 3 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 |
3 | HG03130.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-249-7962C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135594538 | |||||||
| chr2:135594627 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-249-7873A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135594627 | |||||||
| chr2:135594628 | G | A | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-249-7872G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135594628 | |||||||
| chr2:135594757 | T | TTC | 221 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(218): Show |
221 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(218): Show |
intron_variant | MODIFIER | c.-249-7742_-249-774 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135594757 | ||||||
| chr2:135594977 | A | AC | 87 | a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0066 others(84): Show |
87 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(84): Show |
intron_variant | MODIFIER | c.-249-7513dupC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135594977 | ||||||
| chr2:135594977 | A | ACC | 31 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(28): Show |
31 | HG00639.hp2 HG01261.hp1 HG01433.hp1 others(28): Show |
intron_variant | MODIFIER | c.-249-7514_-249-751 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135594977 | ||||||
| chr2:135594984 | C | T | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-249-7516C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135594984 | |||||||
| chr2:135595495 | A | G | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.-249-7005A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135595495 | |||||||
| chr2:135595498 | T | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-7002T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135595498 | |||||||
| chr2:135595890 | C | A | 5 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 others(2): Show |
5 | HG02109.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-6610C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135595890 | |||||||
| chr2:135596084 | C | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-6416C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596084 | |||||||
| chr2:135596156 | G | A | 1 | a0003c0003t0003g0041 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-249-6344G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596156 | |||||||
| chr2:135596290 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-249-6210G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596290 | |||||||
| chr2:135596347 | A | G | 1 | a0001c0001t0002g0129 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.-249-6153A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596347 | |||||||
| chr2:135596409 | T | C | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-249-6091T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596409 | |||||||
| chr2:135596414 | C | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-249-6086C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596414 | |||||||
| chr2:135596614 | A | T | 1 | a0003c0003t0001g0048 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.-249-5886A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596614 | |||||||
| chr2:135596634 | T | A | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.-249-5866T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135596634 | |||||||
| chr2:135597244 | C | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-5256C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135597244 | |||||||
| chr2:135597257 | G | T | 22 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(19): Show |
22 | HG01243.hp2 HG02055.hp1 HG02257.hp1 others(19): Show |
intron_variant | MODIFIER | c.-249-5243G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135597257 | |||||||
| chr2:135597345 | T | G | 3 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0053 |
3 | HG02280.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-249-5155T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135597345 | |||||||
| chr2:135597527 | G | T | 2 | a0002c0002t0001g0186 a0002c0002t0001g0187 |
2 | HG02451.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-249-4973G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135597527 | |||||||
| chr2:135597657 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-4843C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135597657 | |||||||
| chr2:135598153 | G | A | 1 | a0001c0001t0001g0173 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-249-4347G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598153 | |||||||
| chr2:135598165 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-4335C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598165 | |||||||
| chr2:135598370 | C | A | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-249-4130C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598370 | |||||||
| chr2:135598541 | C | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-249-3959C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598541 | |||||||
| chr2:135598644 | CCTAAT | C | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-3853_-249-384 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135598644 | ||||||
| chr2:135598657 | A | T | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.-249-3843A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598657 | |||||||
| chr2:135598802 | T | C | 2 | a0001c0001t0001g0038 a0003c0003t0001g0013 |
2 | HG00408.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.-249-3698T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598802 | |||||||
| chr2:135598933 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-3567G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135598933 | |||||||
| chr2:135599074 | T | C | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-249-3426T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135599074 | |||||||
| chr2:135599193 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-3307C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135599193 | |||||||
| chr2:135599210 | A | G | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-249-3290A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135599210 | |||||||
| chr2:135599464 | C | CTAAG | 2 | a0003c0003t0001g0026 a0005c0006t0001g0022 |
2 | HG04115.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.-249-3033_-249-303 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135599464 | ||||||
| chr2:135599576 | C | A | 1 | a0002c0002t0001g0153 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.-249-2924C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135599576 | |||||||
| chr2:135599820 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-249-2680G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135599820 | |||||||
| chr2:135599917 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-2583G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135599917 | |||||||
| chr2:135600068 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-2432A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135600068 | |||||||
| chr2:135600103 | A | AT | 37 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0066 others(34): Show |
37 | HG00621.hp1 HG00741.hp2 HG01175.hp1 others(34): Show |
intron_variant | MODIFIER | c.-249-2372dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135600103 | ||||||
| chr2:135600103 | AT | A | 56 | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0045 others(53): Show |
56 | HG00408.hp2 HG00639.hp2 HG01192.hp1 others(53): Show |
intron_variant | MODIFIER | c.-249-2372delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135600103 | ||||||
| chr2:135600103 | ATTTTTTT others(4): Show |
A | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-249-2382_-249-237 others(15): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135600103 | ||||||
| chr2:135600434 | C | G | 1 | a0001c0001t0001g0217 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-249-2066C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135600434 | |||||||
| chr2:135600436 | A | G | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-249-2064A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135600436 | |||||||
| chr2:135600550 | ATCAGAAA others(8): Show |
A | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-249-1944_-249-193 others(19): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135600550 | ||||||
| chr2:135600625 | G | A | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-249-1875G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135600625 | |||||||
| chr2:135600669 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-249-1831C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135600669 | |||||||
| chr2:135600757 | C | A | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-249-1743C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135600757 | |||||||
| chr2:135601137 | A | C | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-249-1363A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135601137 | |||||||
| chr2:135601165 | G | T | 1 | a0003c0003t0001g0014 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.-249-1335G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135601165 | |||||||
| chr2:135601486 | T | C | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-249-1014T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135601486 | |||||||
| chr2:135601518 | T | C | 1 | a0003c0003t0001g0034 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-249-982T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135601518 | |||||||
| chr2:135601676 | TTTTTG | T | 3 | a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 |
3 | NA18972.hp2 NA18982.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.-249-804_-249-800d others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135601676 | ||||||
| chr2:135601717 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-249-783C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135601717 | |||||||
| chr2:135601948 | C | T | 1 | a0003c0003t0001g0032 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-249-552C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135601948 | |||||||
| chr2:135601964 | C | CT | 5 | a0001c0001t0001g0131 a0001c0001t0004g0087 a0002c0002t0001g0175 others(2): Show |
5 | HG00621.hp2 HG03516.hp1 HG04199.hp1 others(2): Show |
intron_variant | MODIFIER | c.-249-514dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | 135601964 | ||||||
| chr2:135602038 | G | C | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-249-462G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | chr2 | 135602038 | |||||||
| chr2:135602769 | G | A | 7 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.-41+61G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135602769 | |||||||
| chr2:135602832 | G | A | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-41+124G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135602832 | |||||||
| chr2:135602838 | A | T | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-41+130A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135602838 | |||||||
| chr2:135602880 | G | GT | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.-41+176dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | 135602880 | ||||||
| chr2:135602885 | C | T | 123 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(120): Show |
123 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(120): Show |
intron_variant | MODIFIER | c.-41+177C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135602885 | |||||||
| chr2:135602903 | A | C | 1 | a0004c0004t0001g0113 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-41+195A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135602903 | |||||||
| chr2:135603116 | G | A | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-41+408G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603116 | |||||||
| chr2:135603136 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-41+428C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603136 | |||||||
| chr2:135603176 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-41+468G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603176 | |||||||
| chr2:135603416 | A | G | 1 | a0002c0002t0001g0137 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-41+708A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603416 | |||||||
| chr2:135603489 | T | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-41+781T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603489 | |||||||
| chr2:135603523 | C | T | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-41+815C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603523 | |||||||
| chr2:135603632 | G | C | 7 | a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 others(4): Show |
7 | HG01433.hp2 HG01993.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.-41+924G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603632 | |||||||
| chr2:135603705 | T | C | 1 | a0001c0001t0002g0128 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.-41+997T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603705 | |||||||
| chr2:135603814 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-40-992C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603814 | |||||||
| chr2:135603882 | C | T | 12 | a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0033 others(9): Show |
12 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(9): Show |
intron_variant | MODIFIER | c.-40-924C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603882 | |||||||
| chr2:135603990 | A | G | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-40-816A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135603990 | |||||||
| chr2:135604293 | A | T | 1 | a0003c0003t0001g0204 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-40-513A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135604293 | |||||||
| chr2:135604425 | A | G | 3 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 |
3 | HG03130.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-40-381A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135604425 | |||||||
| chr2:135604477 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-40-329G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135604477 | |||||||
| chr2:135604546 | C | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-40-260C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135604546 | |||||||
| chr2:135604626 | A | G | 5 | a0002c0002t0001g0130 a0002c0002t0001g0145 a0002c0002t0001g0146 others(2): Show |
5 | NA18952.hp1 NA18962.hp2 NA19070.hp1 others(2): Show |
intron_variant | MODIFIER | c.-40-180A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135604626 | |||||||
| chr2:135604639 | T | C | 1 | a0001c0001t0002g0105 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-40-167T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2/26 | chr2 | 135604639 | |||||||
| chr2:135605022 | C | T | 1 | a0002c0002t0001g0058 | 1 | HG03486.hp1 | splice_region_variant&intron_variant | LOW | c.171+6C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605022 | |||||||
| chr2:135605269 | C | G | 2 | a0003c0003t0001g0035 a0003c0003t0001g0036 |
2 | NA19058.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.171+253C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605269 | |||||||
| chr2:135605470 | C | T | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.171+454C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605470 | |||||||
| chr2:135605540 | G | A | 10 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | HG03017.hp1 HG03704.hp1 NA18947.hp2 others(7): Show |
intron_variant | MODIFIER | c.171+524G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605540 | |||||||
| chr2:135605711 | GTC | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.171+703_171+704del others(2): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135605711 | ||||||
| chr2:135605723 | C | T | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.171+707C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605723 | |||||||
| chr2:135605737 | T | A | 7 | a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 others(4): Show |
7 | HG01433.hp2 HG01993.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.171+721T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605737 | |||||||
| chr2:135605879 | T | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.171+863T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605879 | |||||||
| chr2:135605926 | C | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.171+910C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135605926 | |||||||
| chr2:135605988 | A | AT | 30 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(27): Show |
30 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.171+982dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135605988 | ||||||
| chr2:135606080 | G | A | 2 | a0002c0002t0001g0186 a0002c0002t0001g0187 |
2 | HG02451.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.171+1064G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135606080 | |||||||
| chr2:135606105 | G | A | 1 | a0002c0002t0001g0172 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.171+1089G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135606105 | |||||||
| chr2:135606210 | A | G | 2 | a0003c0003t0001g0026 a0005c0006t0001g0022 |
2 | HG04115.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.171+1194A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135606210 | |||||||
| chr2:135606578 | A | T | 1 | a0001c0001t0001g0124 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.171+1562A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135606578 | |||||||
| chr2:135606586 | AC | A | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.171+1573delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135606586 | ||||||
| chr2:135606754 | C | CA | 73 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(70): Show |
73 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(70): Show |
intron_variant | MODIFIER | c.171+1756dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135606754 | ||||||
| chr2:135606754 | CA | C | 30 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(27): Show |
30 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.171+1756delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135606754 | ||||||
| chr2:135606778 | A | T | 1 | a0002c0002t0001g0157 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.171+1762A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135606778 | |||||||
| chr2:135606975 | T | TG | 10 | a0001c0001t0001g0050 a0001c0001t0001g0073 a0002c0002t0001g0028 others(7): Show |
10 | HG01175.hp2 HG01192.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.171+1966dupG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135606975 | ||||||
| chr2:135606983 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.171+1967C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135606983 | |||||||
| chr2:135607021 | G | A | 31 | a0002c0002t0001g0009 a0002c0002t0001g0062 a0002c0002t0001g0063 others(28): Show |
31 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(28): Show |
intron_variant | MODIFIER | c.171+2005G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607021 | |||||||
| chr2:135607123 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.171+2107G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607123 | |||||||
| chr2:135607137 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.171+2121C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607137 | |||||||
| chr2:135607182 | T | G | 1 | a0001c0001t0001g0067 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.171+2166T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607182 | |||||||
| chr2:135607346 | T | C | 43 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(40): Show |
43 | HG00639.hp2 HG01243.hp2 HG01261.hp1 others(40): Show |
intron_variant | MODIFIER | c.171+2330T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607346 | |||||||
| chr2:135607350 | A | AT | 3 | a0001c0001t0001g0092 a0001c0001t0001g0095 a0010c0010t0001g0094 |
3 | HG00639.hp2 HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.171+2336dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135607350 | ||||||
| chr2:135607579 | G | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.171+2563G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607579 | |||||||
| chr2:135607670 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.171+2654G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135607670 | |||||||
| chr2:135608026 | A | T | 2 | a0004c0004t0001g0121 a0004c0004t0001g0122 |
2 | HG01928.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.171+3010A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608026 | |||||||
| chr2:135608054 | A | G | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.171+3038A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608054 | |||||||
| chr2:135608112 | G | A | 1 | a0002c0002t0001g0167 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.171+3096G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608112 | |||||||
| chr2:135608317 | A | AAAT | 19 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(16): Show |
19 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.171+3326_171+3328d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135608317 | ||||||
| chr2:135608405 | C | G | 1 | a0001c0001t0001g0173 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.171+3389C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608405 | |||||||
| chr2:135608639 | C | A | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.171+3623C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608639 | |||||||
| chr2:135608863 | A | G | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.171+3847A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608863 | |||||||
| chr2:135608993 | T | C | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.171+3977T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135608993 | |||||||
| chr2:135609357 | C | T | 1 | a0002c0002t0001g0140 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.171+4341C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609357 | |||||||
| chr2:135609400 | G | T | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.171+4384G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609400 | |||||||
| chr2:135609723 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.171+4707G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609723 | |||||||
| chr2:135609725 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.171+4709G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609725 | |||||||
| chr2:135609817 | C | T | 4 | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0098 others(1): Show |
4 | HG00639.hp1 HG00735.hp2 HG01243.hp1 others(1): Show |
intron_variant | MODIFIER | c.171+4801C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609817 | |||||||
| chr2:135609888 | A | T | 1 | a0006c0005t0001g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.171+4872A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609888 | |||||||
| chr2:135609940 | A | G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.171+4924A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609940 | |||||||
| chr2:135609969 | G | A | 1 | a0002c0002t0001g0153 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.171+4953G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135609969 | |||||||
| chr2:135610036 | C | G | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.171+5020C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610036 | |||||||
| chr2:135610141 | A | C | 5 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 others(2): Show |
5 | HG02109.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.171+5125A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610141 | |||||||
| chr2:135610301 | T | C | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.171+5285T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610301 | |||||||
| chr2:135610423 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.171+5407G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610423 | |||||||
| chr2:135610429 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.171+5413C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610429 | |||||||
| chr2:135610473 | T | C | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.171+5457T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610473 | |||||||
| chr2:135610634 | C | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.172-5518C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610634 | |||||||
| chr2:135610823 | C | T | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.172-5329C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610823 | |||||||
| chr2:135610961 | T | G | 1 | a0002c0002t0001g0108 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.172-5191T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610961 | |||||||
| chr2:135610993 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
133 | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(130): Show |
intron_variant | MODIFIER | c.172-5159A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135610993 | |||||||
| chr2:135611036 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.172-5116C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611036 | |||||||
| chr2:135611039 | G | C | 1 | a0001c0001t0002g0103 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.172-5113G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611039 | |||||||
| chr2:135611121 | T | A | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.172-5031T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611121 | |||||||
| chr2:135611145 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.172-5007C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611145 | |||||||
| chr2:135611188 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.172-4964G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611188 | |||||||
| chr2:135611258 | C | CA | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.172-4887dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135611258 | ||||||
| chr2:135611599 | C | T | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.172-4553C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611599 | |||||||
| chr2:135611657 | A | G | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.172-4495A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611657 | |||||||
| chr2:135611914 | G | T | 1 | a0001c0001t0001g0136 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.172-4238G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611914 | |||||||
| chr2:135611927 | G | A | 40 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(37): Show |
40 | HG00639.hp2 HG01243.hp2 HG01261.hp1 others(37): Show |
intron_variant | MODIFIER | c.172-4225G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135611927 | |||||||
| chr2:135612010 | G | A | 40 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(37): Show |
40 | HG00639.hp2 HG01243.hp2 HG01261.hp1 others(37): Show |
intron_variant | MODIFIER | c.172-4142G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135612010 | |||||||
| chr2:135612127 | T | C | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.172-4025T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135612127 | |||||||
| chr2:135612576 | TCTG | T | 2 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.172-3574_172-3572d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135612576 | ||||||
| chr2:135612945 | A | G | 1 | a0002c0002t0001g0154 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.172-3207A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135612945 | |||||||
| chr2:135612947 | A | G | 4 | a0001c0001t0001g0098 a0001c0001t0001g0206 a0001c0001t0001g0207 others(1): Show |
4 | HG00639.hp1 HG02257.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.172-3205A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135612947 | |||||||
| chr2:135613131 | G | A | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.172-3021G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613131 | |||||||
| chr2:135613384 | G | A | 7 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.172-2768G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613384 | |||||||
| chr2:135613385 | C | A | 1 | a0008c0008t0001g0163 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.172-2767C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613385 | |||||||
| chr2:135613409 | C | G | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.172-2743C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613409 | |||||||
| chr2:135613829 | G | A | 7 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.172-2323G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613829 | |||||||
| chr2:135613937 | T | C | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.172-2215T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613937 | |||||||
| chr2:135613994 | T | C | 1 | a0003c0003t0003g0039 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.172-2158T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135613994 | |||||||
| chr2:135614098 | T | C | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.172-2054T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614098 | |||||||
| chr2:135614194 | A | G | 1 | a0002c0002t0001g0166 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.172-1958A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614194 | |||||||
| chr2:135614626 | A | G | 1 | a0001c0001t0002g0102 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.172-1526A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614626 | |||||||
| chr2:135614643 | C | A | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.172-1509C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614643 | |||||||
| chr2:135614796 | A | G | 1 | a0001c0001t0001g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.172-1356A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614796 | |||||||
| chr2:135614815 | C | CT | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.172-1327dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135614815 | ||||||
| chr2:135614929 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.172-1223T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614929 | |||||||
| chr2:135614963 | C | T | 1 | a0005c0006t0001g0126 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.172-1189C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135614963 | |||||||
| chr2:135615085 | G | C | 1 | a0002c0002t0001g0100 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.172-1067G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135615085 | |||||||
| chr2:135615155 | T | G | 1 | a0003c0003t0001g0014 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.172-997T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135615155 | |||||||
| chr2:135615212 | T | G | 1 | a0001c0001t0001g0098 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.172-940T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135615212 | |||||||
| chr2:135615247 | G | GT | 50 | a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0173 others(47): Show |
50 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(47): Show |
intron_variant | MODIFIER | c.172-894dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | 135615247 | ||||||
| chr2:135615463 | C | A | 7 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | HG00639.hp2 HG01261.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.172-689C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 3/26 | chr2 | 135615463 | |||||||
| chr2:135616203 | A | G | 1 | a0001c0001t0002g0128 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.213+10A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 4/26 | chr2 | 135616203 | |||||||
| chr2:135616278 | CAGTTT | C | 4 | a0002c0002t0001g0188 a0002c0002t0001g0189 a0003c0003t0001g0190 others(1): Show |
4 | HG01433.hp2 HG01993.hp1 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.213+90_213+94delTA others(3): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | 135616278 | ||||||
| chr2:135616349 | T | C | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.213+156T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 4/26 | chr2 | 135616349 | |||||||
| chr2:135616439 | G | T | 3 | a0003c0003t0003g0039 a0003c0003t0003g0041 a0003c0003t0003g0055 |
3 | HG01346.hp2 HG01981.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.214-229G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 4/26 | chr2 | 135616439 | |||||||
| chr2:135617139 | C | T | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.303+382C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617139 | |||||||
| chr2:135617172 | A | G | 2 | a0002c0002t0001g0155 a0002c0002t0001g0181 |
2 | HG02080.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.303+415A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617172 | |||||||
| chr2:135617200 | G | A | 1 | a0002c0002t0001g0172 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.303+443G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617200 | |||||||
| chr2:135617304 | G | A | 1 | a0006c0005t0001g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.303+547G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617304 | |||||||
| chr2:135617306 | G | A | 5 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 others(2): Show |
5 | HG02109.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.303+549G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617306 | |||||||
| chr2:135617332 | A | AAT | 29 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(26): Show |
29 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.303+576_303+577ins others(2): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135617332 | ||||||
| chr2:135617334 | A | AAT | 29 | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0206 others(26): Show |
29 | HG00735.hp2 HG01243.hp2 HG02055.hp1 others(26): Show |
intron_variant | MODIFIER | c.303+590_303+591dup others(2): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135617334 | ||||||
| chr2:135617334 | A | T | 121 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(118): Show |
121 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(118): Show |
intron_variant | MODIFIER | c.303+577A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617334 | |||||||
| chr2:135617505 | C | G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.303+748C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617505 | |||||||
| chr2:135617877 | G | T | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.303+1120G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617877 | |||||||
| chr2:135617997 | G | A | 7 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | HG00639.hp2 HG01261.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.303+1240G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135617997 | |||||||
| chr2:135618164 | A | AT | 8 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show |
8 | HG01261.hp2 HG02055.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.303+1423dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135618164 | ||||||
| chr2:135618164 | AT | A | 94 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(91): Show |
94 | HG00741.hp1 HG01192.hp1 HG01243.hp2 others(91): Show |
intron_variant | MODIFIER | c.303+1423delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135618164 | ||||||
| chr2:135618249 | C | T | 1 | a0003c0003t0001g0201 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.303+1492C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618249 | |||||||
| chr2:135618285 | C | T | 40 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0062 others(37): Show |
40 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(37): Show |
intron_variant | MODIFIER | c.303+1528C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618285 | |||||||
| chr2:135618463 | A | AATT | 8 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(5): Show |
8 | HG02622.hp2 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.303+1706_303+1707i others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618463 | |||||||
| chr2:135618463 | A | ATTT | 11 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0221 others(8): Show |
11 | HG02109.hp2 HG02280.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.303+1725_303+1727d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135618463 | ||||||
| chr2:135618463 | AT | A | 95 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show |
95 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(92): Show |
intron_variant | MODIFIER | c.303+1727delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135618463 | ||||||
| chr2:135618463 | ATT | A | 66 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(63): Show |
66 | HG00741.hp1 HG01243.hp2 HG01256.hp2 others(63): Show |
intron_variant | MODIFIER | c.303+1726_303+1727d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135618463 | ||||||
| chr2:135618511 | A | T | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.303+1754A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618511 | |||||||
| chr2:135618846 | C | A | 4 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(1): Show |
4 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.303+2089C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618846 | |||||||
| chr2:135618914 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.303+2157G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618914 | |||||||
| chr2:135618945 | A | G | 138 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(135): Show |
138 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.303+2188A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618945 | |||||||
| chr2:135618977 | G | A | 1 | a0002c0002t0001g0100 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.303+2220G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135618977 | |||||||
| chr2:135619021 | C | CA | 5 | a0001c0001t0001g0127 a0001c0001t0001g0217 a0004c0004t0001g0114 others(2): Show |
5 | HG00741.hp2 HG01884.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.303+2283dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135619021 | ||||||
| chr2:135619021 | CA | C | 98 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
98 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(95): Show |
intron_variant | MODIFIER | c.303+2283delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | 135619021 | ||||||
| chr2:135619424 | T | C | 7 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.304-2070T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135619424 | |||||||
| chr2:135619844 | T | G | 3 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0053 |
3 | HG02280.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.304-1650T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135619844 | |||||||
| chr2:135619865 | A | T | 1 | a0002c0002t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.304-1629A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135619865 | |||||||
| chr2:135619900 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.304-1594T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135619900 | |||||||
| chr2:135620877 | A | G | 1 | a0003c0003t0001g0202 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.304-617A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135620877 | |||||||
| chr2:135620969 | G | C | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.304-525G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135620969 | |||||||
| chr2:135621029 | A | G | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.304-465A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135621029 | |||||||
| chr2:135621325 | G | A | 27 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(24): Show |
27 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.304-169G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135621325 | |||||||
| chr2:135621404 | C | T | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.304-90C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 5/26 | chr2 | 135621404 | |||||||
| chr2:135621624 | GT | G | 127 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(124): Show |
127 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(124): Show |
intron_variant | MODIFIER | c.418+25delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr2 | 135621624 | ||||||
| chr2:135621633 | T | A | 1 | a0001c0001t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.418+25T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | chr2 | 135621633 | |||||||
| chr2:135621633 | TA | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.418+34delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr2 | 135621633 | ||||||
| chr2:135621635 | A | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.418+27A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | chr2 | 135621635 | |||||||
| chr2:135621636 | A | T | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.418+28A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | chr2 | 135621636 | |||||||
| chr2:135621807 | A | AC | 132 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(129): Show |
132 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(129): Show |
intron_variant | MODIFIER | c.418+199_418+200ins others(1): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | chr2 | 135621807 | |||||||
| chr2:135622115 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.418+507T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 6/26 | chr2 | 135622115 | |||||||
| chr2:135623153 | A | G | 63 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(60): Show |
63 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(60): Show |
intron_variant | MODIFIER | c.497+421A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623153 | |||||||
| chr2:135623235 | A | T | 1 | a0006c0005t0006g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.497+503A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623235 | |||||||
| chr2:135623276 | G | A | 40 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(37): Show |
40 | HG00639.hp2 HG01243.hp2 HG01261.hp1 others(37): Show |
intron_variant | MODIFIER | c.497+544G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623276 | |||||||
| chr2:135623321 | G | A | 7 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | HG00639.hp2 HG01261.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.497+589G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623321 | |||||||
| chr2:135623630 | A | G | 5 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0144 others(2): Show |
5 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.497+898A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623630 | |||||||
| chr2:135623681 | G | T | 7 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.497+949G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623681 | |||||||
| chr2:135623714 | GA | G | 7 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | HG00639.hp2 HG01261.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.497+984delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135623714 | ||||||
| chr2:135623778 | G | A | 220 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(217): Show |
220 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(217): Show |
intron_variant | MODIFIER | c.497+1046G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135623778 | |||||||
| chr2:135624323 | A | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.497+1591A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135624323 | |||||||
| chr2:135624388 | C | T | 6 | a0002c0002t0001g0104 a0002c0002t0001g0159 a0002c0002t0001g0160 others(3): Show |
6 | HG01943.hp1 NA18967.hp2 NA18968.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+1656C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135624388 | |||||||
| chr2:135624393 | C | CA | 67 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show |
67 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(64): Show |
intron_variant | MODIFIER | c.497+1679dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135624393 | ||||||
| chr2:135624750 | A | C | 1 | a0001c0001t0001g0173 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.497+2018A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135624750 | |||||||
| chr2:135624761 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.497+2029G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135624761 | |||||||
| chr2:135625044 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.497+2312C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625044 | |||||||
| chr2:135625060 | C | CCTGGACT others(12): Show |
1 | a0007c0007t0001g0180 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.497+2329_497+2347d others(21): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135625060 | ||||||
| chr2:135625064 | G | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0184 |
2 | NA18999.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.497+2332G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625064 | |||||||
| chr2:135625111 | T | C | 64 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(61): Show |
64 | HG00408.hp2 HG00741.hp1 HG01192.hp1 others(61): Show |
intron_variant | MODIFIER | c.497+2379T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625111 | |||||||
| chr2:135625130 | A | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.497+2398A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625130 | |||||||
| chr2:135625343 | G | A | 1 | a0007c0007t0001g0180 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.497+2611G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625343 | |||||||
| chr2:135625366 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.497+2634A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625366 | |||||||
| chr2:135625397 | A | T | 3 | a0003c0003t0001g0025 a0003c0003t0001g0035 a0003c0003t0001g0036 |
3 | NA19001.hp2 NA19058.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.497+2665A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625397 | |||||||
| chr2:135625838 | C | G | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.497+3106C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135625838 | |||||||
| chr2:135626025 | A | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.497+3293A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626025 | |||||||
| chr2:135626181 | TTGCGTGC others(5): Show |
T | 5 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0144 others(2): Show |
5 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.497+3469_497+3480d others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626181 | ||||||
| chr2:135626188 | C | T | 1 | a0001c0001t0001g0183 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.497+3456C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626188 | |||||||
| chr2:135626189 | G | GTGCTTGC others(5): Show |
1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.497+3460_497+3461i others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626189 | ||||||
| chr2:135626193 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.497+3461G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626193 | |||||||
| chr2:135626197 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.497+3465G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626197 | |||||||
| chr2:135626201 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.497+3469G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626201 | |||||||
| chr2:135626204 | C | CGTGT | 4 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show |
4 | HG00639.hp1 HG02258.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.497+3475_497+3476i others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626204 | ||||||
| chr2:135626204 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.497+3472C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626204 | |||||||
| chr2:135626205 | G | GTGCTTGC others(5): Show |
2 | a0001c0001t0001g0207 a0001c0001t0001g0208 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.497+3476_497+3477i others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGCTTGC others(9): Show |
3 | a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 |
3 | HG02257.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.497+3476_497+3477i others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGCTTGC others(17): Show |
1 | a0001c0001t0001g0211 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.497+3476_497+3477i others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGTGTGC others(1): Show |
6 | a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 others(3): Show |
6 | HG01433.hp2 HG01993.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.497+3475_497+3476i others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGTGTGC others(5): Show |
17 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(14): Show |
17 | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.497+3475_497+3476i others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGTGTGC others(9): Show |
18 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(15): Show |
18 | HG00558.hp2 HG01175.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.497+3475_497+3476i others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGTGTGC others(13): Show |
6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 others(3): Show |
6 | HG02257.hp2 HG02809.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+3475_497+3476i others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | GTGTGTGC others(17): Show |
1 | a0001c0001t0001g0002 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.497+3475_497+3476i others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626205 | G | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.497+3473G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626205 | |||||||
| chr2:135626205 | GTGCGTGC others(5): Show |
G | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.497+3477_497+3488d others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626205 | ||||||
| chr2:135626209 | G | GTGCGTGC others(9): Show |
1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.497+3480_497+3481i others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGCGTGT others(9): Show |
1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.497+3480_497+3481i others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGCTTGC others(17): Show |
4 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
4 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.497+3494_497+3517d others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGCTTGC others(21): Show |
1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.497+3490_497+3517d others(30): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGTGTGC others(5): Show |
2 | a0001c0001t0001g0018 a0003c0003t0001g0013 |
2 | HG03017.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.497+3479_497+3480i others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGTGTGC others(9): Show |
5 | a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0035 others(2): Show |
5 | HG01433.hp1 HG02451.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.497+3479_497+3480i others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGTGTGC others(13): Show |
28 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 others(25): Show |
28 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(25): Show |
intron_variant | MODIFIER | c.497+3479_497+3480i others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGTGTGC others(17): Show |
20 | a0001c0001t0001g0047 a0002c0002t0001g0028 a0003c0003t0001g0014 others(17): Show |
20 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.497+3479_497+3480i others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | GTGTGTGC others(21): Show |
3 | a0001c0001t0001g0052 a0003c0003t0001g0032 a0005c0006t0001g0022 |
3 | HG04115.hp2 NA19030.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.497+3479_497+3480i others(30): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135626209 | ||||||
| chr2:135626209 | G | T | 59 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(56): Show |
59 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.497+3477G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626209 | |||||||
| chr2:135626415 | C | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.497+3683C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135626415 | |||||||
| chr2:135627050 | A | T | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.497+4318A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135627050 | |||||||
| chr2:135627623 | A | ATAACTTA others(22): Show |
1 | a0002c0002t0001g0118 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.498-4094_498-4066d others(31): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135627623 | ||||||
| chr2:135627656 | A | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.498-4062A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135627656 | |||||||
| chr2:135627702 | T | G | 1 | a0004c0004t0001g0113 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.498-4016T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135627702 | |||||||
| chr2:135627710 | G | A | 28 | a0001c0001t0001g0095 a0001c0001t0001g0206 a0001c0001t0001g0207 others(25): Show |
28 | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(25): Show |
intron_variant | MODIFIER | c.498-4008G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135627710 | |||||||
| chr2:135627963 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.498-3755C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135627963 | |||||||
| chr2:135628113 | T | C | 62 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(59): Show |
62 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(59): Show |
intron_variant | MODIFIER | c.498-3605T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628113 | |||||||
| chr2:135628316 | TG | T | 7 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | HG00639.hp2 HG01261.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.498-3401delG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628316 | |||||||
| chr2:135628335 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.498-3383A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628335 | |||||||
| chr2:135628500 | G | A | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.498-3218G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628500 | |||||||
| chr2:135628583 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.498-3135G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628583 | |||||||
| chr2:135628615 | C | CTTGT | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG02809.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.498-3080_498-3077d others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135628615 | ||||||
| chr2:135628686 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.498-3032G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628686 | |||||||
| chr2:135628731 | A | G | 1 | a0006c0005t0001g0072 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.498-2987A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628731 | |||||||
| chr2:135628739 | A | G | 1 | a0002c0002t0001g0140 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.498-2979A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628739 | |||||||
| chr2:135628863 | T | G | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-2855T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628863 | |||||||
| chr2:135628990 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.498-2728G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135628990 | |||||||
| chr2:135629120 | C | T | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.498-2598C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629120 | |||||||
| chr2:135629156 | A | G | 63 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(60): Show |
63 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(60): Show |
intron_variant | MODIFIER | c.498-2562A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629156 | |||||||
| chr2:135629188 | A | G | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.498-2530A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629188 | |||||||
| chr2:135629303 | G | A | 1 | a0002c0002t0001g0164 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.498-2415G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629303 | |||||||
| chr2:135629315 | A | AAAAC | 48 | a0001c0001t0001g0136 a0001c0001t0001g0173 a0002c0002t0001g0009 others(45): Show |
48 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.498-2383_498-2380d others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135629315 | ||||||
| chr2:135629394 | T | A | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.498-2324T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629394 | |||||||
| chr2:135629543 | T | C | 3 | a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 |
3 | NA18972.hp2 NA18982.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.498-2175T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629543 | |||||||
| chr2:135629729 | T | G | 63 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(60): Show |
63 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(60): Show |
intron_variant | MODIFIER | c.498-1989T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135629729 | |||||||
| chr2:135630056 | TA | T | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.498-1648delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630056 | ||||||
| chr2:135630281 | C | CA | 22 | a0001c0001t0001g0107 a0001c0001t0001g0156 a0002c0002t0001g0028 others(19): Show |
22 | HG00741.hp2 HG01978.hp1 HG01981.hp2 others(19): Show |
intron_variant | MODIFIER | c.498-1410dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630281 | ||||||
| chr2:135630281 | C | CAA | 11 | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 others(8): Show |
11 | HG01243.hp1 HG02109.hp1 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.498-1411_498-1410d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630281 | ||||||
| chr2:135630281 | C | CAAA | 13 | a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 others(10): Show |
13 | HG00639.hp1 HG00735.hp2 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.498-1412_498-1410d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630281 | ||||||
| chr2:135630281 | CA | C | 78 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(75): Show |
78 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(75): Show |
intron_variant | MODIFIER | c.498-1410delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630281 | ||||||
| chr2:135630281 | CAA | C | 9 | a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0090 others(6): Show |
9 | HG00639.hp2 HG01243.hp2 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.498-1411_498-1410d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630281 | ||||||
| chr2:135630281 | CAAAAAAA others(6): Show |
C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0007 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.498-1422_498-1410d others(15): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630281 | ||||||
| chr2:135630294 | A | C | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.498-1424A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630294 | |||||||
| chr2:135630296 | A | C | 1 | a0007c0007t0001g0180 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.498-1422A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630296 | |||||||
| chr2:135630297 | A | C | 3 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 |
3 | HG03195.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.498-1421A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630297 | |||||||
| chr2:135630298 | AAAAAAAA others(4): Show |
A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.498-1408_498-1398d others(13): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135630298 | ||||||
| chr2:135630307 | A | C | 4 | a0001c0001t0001g0089 a0001c0001t0001g0209 a0001c0001t0001g0210 others(1): Show |
4 | HG03130.hp1 HG03516.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-1411A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630307 | |||||||
| chr2:135630308 | A | AAAAAAC | 5 | a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0223 others(2): Show |
5 | HG02109.hp2 HG02622.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.498-1410_498-1409i others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630308 | |||||||
| chr2:135630308 | A | AAAAAC | 10 | a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 others(7): Show |
10 | HG02647.hp1 HG02809.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.498-1410_498-1409i others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630308 | |||||||
| chr2:135630308 | AC | A | 5 | a0001c0001t0001g0089 a0001c0001t0001g0209 a0001c0001t0001g0210 others(2): Show |
5 | HG03130.hp1 HG03516.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.498-1409delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630308 | |||||||
| chr2:135630309 | C | A | 19 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(16): Show |
19 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.498-1409C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630309 | |||||||
| chr2:135630312 | A | ACAAAC | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.498-1406_498-1405i others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630312 | |||||||
| chr2:135630323 | G | A | 40 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(37): Show |
40 | HG00639.hp2 HG01243.hp2 HG01261.hp1 others(37): Show |
intron_variant | MODIFIER | c.498-1395G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630323 | |||||||
| chr2:135630721 | G | A | 5 | a0002c0002t0001g0104 a0002c0002t0001g0159 a0002c0002t0001g0160 others(2): Show |
5 | HG01943.hp1 NA18967.hp2 NA18968.hp2 others(2): Show |
intron_variant | MODIFIER | c.498-997G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630721 | |||||||
| chr2:135630881 | A | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.498-837A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630881 | |||||||
| chr2:135630903 | T | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(145): Show |
148 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(145): Show |
intron_variant | MODIFIER | c.498-815T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630903 | |||||||
| chr2:135630970 | A | G | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.498-748A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630970 | |||||||
| chr2:135630991 | T | C | 2 | a0005c0006t0003g0043 a0006c0005t0001g0042 |
2 | HG02056.hp2 HG02080.hp2 |
intron_variant | MODIFIER | c.498-727T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135630991 | |||||||
| chr2:135631069 | G | A | 5 | a0001c0001t0001g0109 a0003c0003t0001g0190 a0004c0004t0001g0116 others(2): Show |
5 | HG01433.hp2 HG01928.hp2 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.498-649G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135631069 | |||||||
| chr2:135631245 | C | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.498-473C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135631245 | |||||||
| chr2:135631364 | G | A | 27 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(24): Show |
27 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.498-354G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135631364 | |||||||
| chr2:135631365 | C | A | 27 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(24): Show |
27 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.498-353C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | chr2 | 135631365 | |||||||
| chr2:135631404 | C | CA | 9 | a0001c0001t0002g0120 a0001c0001t0004g0084 a0001c0001t0004g0085 others(6): Show |
9 | HG00558.hp2 HG00621.hp2 NA18522.hp1 others(6): Show |
intron_variant | MODIFIER | c.498-300dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | 135631404 | ||||||
| chr2:135632242 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.698+241A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135632242 | |||||||
| chr2:135632270 | C | A | 84 | a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 others(81): Show |
84 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(81): Show |
intron_variant | MODIFIER | c.698+269C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135632270 | |||||||
| chr2:135632328 | TA | T | 85 | a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 others(82): Show |
85 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(82): Show |
intron_variant | MODIFIER | c.698+344delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr2 | 135632328 | ||||||
| chr2:135632536 | A | T | 3 | a0002c0002t0001g0138 a0002c0002t0001g0157 a0002c0002t0001g0162 |
3 | HG02165.hp1 NA18971.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.698+535A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135632536 | |||||||
| chr2:135632658 | C | T | 1 | a0003c0003t0001g0013 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.698+657C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135632658 | |||||||
| chr2:135632712 | A | G | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.698+711A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135632712 | |||||||
| chr2:135633118 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.698+1117T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135633118 | |||||||
| chr2:135633160 | T | A | 18 | a0003c0003t0001g0029 a0003c0003t0001g0033 a0003c0003t0001g0190 others(15): Show |
18 | HG00741.hp1 HG01256.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.698+1159T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135633160 | |||||||
| chr2:135633224 | A | G | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.698+1223A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135633224 | |||||||
| chr2:135633525 | TAAA | T | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.698+1525_698+1527d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135633525 | |||||||
| chr2:135633594 | T | A | 1 | a0005c0006t0001g0022 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.698+1593T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135633594 | |||||||
| chr2:135633594 | T | TTA | 60 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(57): Show |
60 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(57): Show |
intron_variant | MODIFIER | c.698+1605_698+1606d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr2 | 135633594 | ||||||
| chr2:135633979 | A | C | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.699-1911A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135633979 | |||||||
| chr2:135634051 | C | T | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.699-1839C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135634051 | |||||||
| chr2:135634105 | C | G | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.699-1785C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135634105 | |||||||
| chr2:135634347 | C | T | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.699-1543C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135634347 | |||||||
| chr2:135634378 | C | T | 2 | a0002c0002t0001g0056 a0002c0002t0001g0058 |
2 | HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.699-1512C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135634378 | |||||||
| chr2:135634904 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.699-986T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135634904 | |||||||
| chr2:135635130 | C | A | 15 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
15 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(12): Show |
intron_variant | MODIFIER | c.699-760C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635130 | |||||||
| chr2:135635378 | C | T | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.699-512C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635378 | |||||||
| chr2:135635402 | C | T | 1 | a0003c0003t0001g0048 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.699-488C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635402 | |||||||
| chr2:135635575 | G | A | 5 | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0098 others(2): Show |
5 | HG00639.hp1 HG00735.hp2 HG01243.hp1 others(2): Show |
intron_variant | MODIFIER | c.699-315G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635575 | |||||||
| chr2:135635587 | G | A | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
77 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(74): Show |
intron_variant | MODIFIER | c.699-303G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635587 | |||||||
| chr2:135635592 | A | G | 2 | a0002c0002t0001g0056 a0002c0002t0001g0058 |
2 | HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.699-298A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635592 | |||||||
| chr2:135635615 | C | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.699-275C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635615 | |||||||
| chr2:135635859 | T | C | 1 | a0001c0001t0001g0131 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.699-31T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 9/26 | chr2 | 135635859 | |||||||
| chr2:135636381 | T | C | 1 | a0001c0001t0001g0123 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.903+198T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135636381 | |||||||
| chr2:135636407 | G | A | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.903+224G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135636407 | |||||||
| chr2:135636549 | C | T | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.903+366C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135636549 | |||||||
| chr2:135636790 | T | TA | 6 | a0001c0001t0001g0066 a0002c0002t0001g0158 a0002c0002t0001g0165 others(3): Show |
6 | HG02165.hp2 HG03579.hp2 NA18522.hp1 others(3): Show |
intron_variant | MODIFIER | c.903+623dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr2 | 135636790 | ||||||
| chr2:135636808 | A | G | 1 | a0003c0003t0003g0040 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.903+625A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135636808 | |||||||
| chr2:135637113 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.903+930A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135637113 | |||||||
| chr2:135637309 | T | C | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.903+1126T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135637309 | |||||||
| chr2:135637590 | G | T | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.904-1028G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135637590 | |||||||
| chr2:135637651 | A | T | 1 | a0001c0001t0002g0105 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.904-967A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135637651 | |||||||
| chr2:135637783 | T | G | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.904-835T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135637783 | |||||||
| chr2:135637957 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.904-661G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135637957 | |||||||
| chr2:135638011 | C | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.904-607C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135638011 | |||||||
| chr2:135638071 | A | G | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.904-547A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135638071 | |||||||
| chr2:135638199 | A | G | 2 | a0002c0002t0001g0175 a0002c0002t0001g0176 |
2 | HG03942.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.904-419A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135638199 | |||||||
| chr2:135638301 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.904-317G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135638301 | |||||||
| chr2:135638401 | T | C | 1 | a0003c0003t0001g0014 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.904-217T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 11/26 | chr2 | 135638401 | |||||||
| chr2:135638730 | T | C | 57 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.942-9T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 12/26 | chr2 | 135638730 | |||||||
| chr2:135639322 | C | T | 27 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(24): Show |
27 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.1219+200C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135639322 | |||||||
| chr2:135639546 | CCTT | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1219+426_1219+428d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | 135639546 | ||||||
| chr2:135639787 | C | T | 1 | a0012c0011t0001g0229 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1219+665C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135639787 | |||||||
| chr2:135639844 | C | A | 1 | a0005c0006t0003g0043 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1219+722C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135639844 | |||||||
| chr2:135639863 | G | A | 73 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(70): Show |
73 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(70): Show |
intron_variant | MODIFIER | c.1219+741G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135639863 | |||||||
| chr2:135639922 | C | G | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1219+800C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135639922 | |||||||
| chr2:135640427 | A | G | 1 | a0001c0001t0001g0211 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1220-1109A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135640427 | |||||||
| chr2:135640447 | A | G | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1220-1089A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135640447 | |||||||
| chr2:135640604 | C | T | 195 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(192): Show |
195 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(192): Show |
intron_variant | MODIFIER | c.1220-932C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135640604 | |||||||
| chr2:135640721 | A | G | 1 | a0001c0001t0007g0019 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1220-815A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135640721 | |||||||
| chr2:135641039 | A | C | 1 | a0002c0002t0001g0104 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1220-497A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135641039 | |||||||
| chr2:135641221 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1220-315A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135641221 | |||||||
| chr2:135641355 | T | A | 2 | a0003c0003t0001g0029 a0003c0003t0001g0033 |
2 | NA18967.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1220-181T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135641355 | |||||||
| chr2:135641511 | A | T | 1 | a0001c0001t0001g0173 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1220-25A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 14/26 | chr2 | 135641511 | |||||||
| chr2:135641838 | G | T | 1 | a0005c0006t0003g0043 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1474+48G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135641838 | |||||||
| chr2:135641973 | AT | A | 79 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(76): Show |
79 | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.1474+190delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr2 | 135641973 | ||||||
| chr2:135642132 | A | G | 15 | a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0140 others(12): Show |
15 | HG01993.hp2 HG02132.hp2 HG02165.hp1 others(12): Show |
intron_variant | MODIFIER | c.1474+342A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135642132 | |||||||
| chr2:135642327 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1474+537G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135642327 | |||||||
| chr2:135642374 | A | T | 1 | a0003c0003t0001g0201 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1474+584A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135642374 | |||||||
| chr2:135642510 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1474+720T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135642510 | |||||||
| chr2:135642907 | C | T | 1 | a0005c0006t0003g0043 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1474+1117C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135642907 | |||||||
| chr2:135643122 | T | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.1474+1332T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135643122 | |||||||
| chr2:135643290 | T | C | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1474+1500T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135643290 | |||||||
| chr2:135643417 | CA | C | 77 | a0001c0001t0001g0017 a0001c0001t0001g0045 a0001c0001t0001g0212 others(74): Show |
77 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(74): Show |
intron_variant | MODIFIER | c.1474+1639delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr2 | 135643417 | ||||||
| chr2:135643432 | G | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1474+1642G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135643432 | |||||||
| chr2:135643673 | A | T | 1 | a0003c0003t0001g0013 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.1475-1706A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135643673 | |||||||
| chr2:135643848 | A | G | 47 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0062 others(44): Show |
47 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(44): Show |
intron_variant | MODIFIER | c.1475-1531A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135643848 | |||||||
| chr2:135644125 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1475-1254G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644125 | |||||||
| chr2:135644273 | C | T | 57 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.1475-1106C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644273 | |||||||
| chr2:135644364 | G | A | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1475-1015G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644364 | |||||||
| chr2:135644459 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.1475-920C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644459 | |||||||
| chr2:135644546 | C | T | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.1475-833C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644546 | |||||||
| chr2:135644547 | A | G | 196 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(193): Show |
196 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(193): Show |
intron_variant | MODIFIER | c.1475-832A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644547 | |||||||
| chr2:135644651 | T | C | 7 | a0002c0002t0001g0104 a0002c0002t0001g0135 a0002c0002t0001g0159 others(4): Show |
7 | HG01943.hp1 NA18967.hp2 NA18968.hp2 others(4): Show |
intron_variant | MODIFIER | c.1475-728T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644651 | |||||||
| chr2:135644781 | C | T | 1 | a0002c0002t0001g0153 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.1475-598C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135644781 | |||||||
| chr2:135645037 | G | A | 1 | a0003c0003t0001g0202 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1475-342G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135645037 | |||||||
| chr2:135645069 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1475-310G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135645069 | |||||||
| chr2:135645076 | C | T | 27 | a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0020 others(24): Show |
27 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(24): Show |
intron_variant | MODIFIER | c.1475-303C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135645076 | |||||||
| chr2:135645133 | CCAGTACC others(71): Show |
C | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.1475-245_1475-168d others(80): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135645133 | |||||||
| chr2:135645264 | T | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1475-115T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135645264 | |||||||
| chr2:135645321 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1475-58G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | 135645321 | |||||||
| chr2:135645702 | C | T | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.1623+175C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135645702 | |||||||
| chr2:135645905 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1623+378G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135645905 | |||||||
| chr2:135646094 | G | A | 1 | a0007c0007t0001g0185 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.1623+567G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646094 | |||||||
| chr2:135646099 | C | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1623+572C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646099 | |||||||
| chr2:135646137 | C | CT | 56 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.1623+626dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135646137 | ||||||
| chr2:135646179 | C | A | 194 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(191): Show |
194 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(191): Show |
intron_variant | MODIFIER | c.1623+652C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646179 | |||||||
| chr2:135646424 | C | T | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.1623+897C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646424 | |||||||
| chr2:135646573 | C | T | 25 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1623+1046C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646573 | |||||||
| chr2:135646850 | A | C | 2 | a0002c0002t0001g0138 a0002c0002t0001g0162 |
2 | NA18971.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.1623+1323A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646850 | |||||||
| chr2:135646892 | A | AAAGAAG | 189 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(186): Show |
189 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(186): Show |
intron_variant | MODIFIER | c.1623+1369_1623+137 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135646892 | ||||||
| chr2:135646954 | T | C | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.1623+1427T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135646954 | |||||||
| chr2:135647270 | G | C | 2 | a0001c0001t0001g0089 a0001c0001t0001g0091 |
2 | HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1623+1743G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135647270 | |||||||
| chr2:135647833 | G | A | 1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1624-2069G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135647833 | |||||||
| chr2:135647900 | A | G | 5 | a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 others(2): Show |
5 | HG00558.hp2 HG00621.hp2 NA18747.hp1 others(2): Show |
intron_variant | MODIFIER | c.1624-2002A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135647900 | |||||||
| chr2:135648284 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1624-1618C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648284 | |||||||
| chr2:135648308 | G | A | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.1624-1594G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648308 | |||||||
| chr2:135648361 | G | A | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1624-1541G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648361 | |||||||
| chr2:135648474 | CT | C | 2 | a0002c0002t0001g0056 a0002c0002t0001g0058 |
2 | HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1624-1427delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648474 | |||||||
| chr2:135648484 | C | T | 1 | a0001c0001t0002g0105 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1624-1418C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648484 | |||||||
| chr2:135648496 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1624-1406T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648496 | |||||||
| chr2:135648539 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1624-1363T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648539 | |||||||
| chr2:135648670 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1624-1232T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648670 | |||||||
| chr2:135648674 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1624-1228G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648674 | |||||||
| chr2:135648693 | T | A | 2 | a0002c0002t0001g0186 a0002c0002t0001g0187 |
2 | HG02451.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1624-1209T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648693 | |||||||
| chr2:135648776 | T | TA | 23 | a0001c0001t0001g0092 a0001c0001t0001g0212 a0001c0001t0001g0214 others(20): Show |
23 | HG00639.hp2 HG02055.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.1624-1109dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135648776 | ||||||
| chr2:135648776 | T | TAA | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
6 | HG01261.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1624-1110_1624-110 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135648776 | ||||||
| chr2:135648786 | A | C | 31 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(28): Show |
31 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.1624-1116A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648786 | |||||||
| chr2:135648793 | AC | A | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1624-1108delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648793 | |||||||
| chr2:135648849 | A | G | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1624-1053A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135648849 | |||||||
| chr2:135648907 | G | GTACTATC others(2): Show |
17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.1624-994_1624-986d others(11): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135648907 | ||||||
| chr2:135649067 | G | GT | 17 | a0001c0001t0001g0038 a0001c0001t0001g0123 a0001c0001t0002g0102 others(14): Show |
17 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(14): Show |
intron_variant | MODIFIER | c.1624-818dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135649067 | ||||||
| chr2:135649067 | GT | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.1624-818delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | 135649067 | ||||||
| chr2:135649076 | T | G | 107 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show |
107 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1624-826T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649076 | |||||||
| chr2:135649076 | T | TG | 6 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 others(3): Show |
6 | HG02109.hp2 HG02630.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1624-826_1624-825i others(3): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649076 | |||||||
| chr2:135649209 | C | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1624-693C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649209 | |||||||
| chr2:135649226 | G | A | 1 | a0002c0002t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1624-676G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649226 | |||||||
| chr2:135649498 | T | C | 37 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
37 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.1624-404T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649498 | |||||||
| chr2:135649508 | T | C | 44 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0062 others(41): Show |
44 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.1624-394T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649508 | |||||||
| chr2:135649583 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1624-319G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649583 | |||||||
| chr2:135649875 | A | G | 57 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.1624-27A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 16/26 | chr2 | 135649875 | |||||||
| chr2:135650097 | AT | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.1725+102delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr2 | 135650097 | ||||||
| chr2:135650404 | T | C | 1 | a0001c0001t0002g0102 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.1725+401T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135650404 | |||||||
| chr2:135650568 | G | A | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1725+565G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135650568 | |||||||
| chr2:135650689 | A | G | 1 | a0002c0002t0001g0155 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1725+686A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135650689 | |||||||
| chr2:135650721 | C | T | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.1725+718C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135650721 | |||||||
| chr2:135651251 | G | A | 113 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
113 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(110): Show |
intron_variant | MODIFIER | c.1726-479G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651251 | |||||||
| chr2:135651311 | A | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.1726-419A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651311 | |||||||
| chr2:135651333 | G | T | 1 | a0001c0001t0001g0099 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1726-397G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651333 | |||||||
| chr2:135651439 | A | C | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.1726-291A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651439 | |||||||
| chr2:135651503 | G | A | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.1726-227G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651503 | |||||||
| chr2:135651526 | T | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.1726-204T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651526 | |||||||
| chr2:135651588 | A | G | 1 | a0001c0001t0001g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1726-142A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 17/26 | chr2 | 135651588 | |||||||
| chr2:135652152 | G | A | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2028+120G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135652152 | |||||||
| chr2:135652545 | C | T | 1 | a0001c0001t0002g0119 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.2028+513C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135652545 | |||||||
| chr2:135652729 | G | A | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2028+697G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135652729 | |||||||
| chr2:135653271 | A | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2028+1239A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135653271 | |||||||
| chr2:135653456 | C | CT | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.2028+1433dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135653456 | ||||||
| chr2:135653612 | C | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2028+1580C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135653612 | |||||||
| chr2:135653741 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.2028+1709C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135653741 | |||||||
| chr2:135653902 | C | T | 1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.2028+1870C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135653902 | |||||||
| chr2:135654039 | G | A | 1 | a0002c0002t0001g0154 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2028+2007G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654039 | |||||||
| chr2:135654050 | C | T | 10 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | HG00639.hp2 HG03017.hp1 HG03704.hp1 others(7): Show |
intron_variant | MODIFIER | c.2028+2018C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654050 | |||||||
| chr2:135654150 | G | A | 3 | a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 |
3 | NA18972.hp2 NA18982.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.2028+2118G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654150 | |||||||
| chr2:135654309 | A | G | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2028+2277A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654309 | |||||||
| chr2:135654427 | T | TTTG | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(55): Show |
58 | HG00735.hp2 HG00741.hp1 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.2028+2435_2028+243 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654427 | ||||||
| chr2:135654427 | T | TTTGTTG | 23 | a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0071 others(20): Show |
23 | HG00408.hp1 HG00558.hp1 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.2028+2432_2028+243 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654427 | ||||||
| chr2:135654427 | T | TTTGTTGT others(2): Show |
4 | a0003c0003t0001g0054 a0003c0003t0001g0059 a0003c0003t0003g0039 others(1): Show |
4 | HG01346.hp2 NA18947.hp1 NA18959.hp2 others(1): Show |
intron_variant | MODIFIER | c.2028+2429_2028+243 others(13): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654427 | ||||||
| chr2:135654427 | TTTG | T | 30 | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0045 others(27): Show |
30 | HG00735.hp1 HG01175.hp2 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.2028+2435_2028+243 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654427 | ||||||
| chr2:135654427 | TTTGTTG | T | 8 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show |
8 | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.2028+2432_2028+243 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654427 | ||||||
| chr2:135654427 | TTTGTTGT others(11): Show |
T | 2 | a0001c0001t0001g0209 a0002c0002t0001g0172 |
2 | HG02055.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2028+2420_2028+243 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654427 | ||||||
| chr2:135654458 | TTGTTGTT others(5): Show |
T | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2028+2427_2028+243 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654458 | |||||||
| chr2:135654470 | A | T | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2028+2438A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654470 | |||||||
| chr2:135654599 | C | A | 4 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(1): Show |
4 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.2028+2567C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654599 | |||||||
| chr2:135654700 | C | T | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2028+2668C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654700 | |||||||
| chr2:135654739 | G | A | 1 | a0003c0003t0001g0204 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.2028+2707G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654739 | |||||||
| chr2:135654750 | A | G | 3 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0053 |
3 | HG02280.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2028+2718A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654750 | |||||||
| chr2:135654825 | T | C | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2028+2793T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654825 | |||||||
| chr2:135654863 | A | AGT | 7 | a0001c0001t0001g0038 a0001c0001t0001g0123 a0001c0001t0001g0127 others(4): Show |
7 | HG00408.hp2 HG02258.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.2028+2870_2028+287 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | A | AGTGT | 2 | a0001c0001t0001g0052 a0001c0001t0001g0184 |
2 | NA18999.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2028+2868_2028+287 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | A | AGTGTGTG others(3): Show |
1 | a0001c0001t0001g0183 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.2028+2862_2028+287 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | AGT | A | 86 | a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0068 others(83): Show |
86 | HG00558.hp2 HG00621.hp2 HG01175.hp1 others(83): Show |
intron_variant | MODIFIER | c.2028+2870_2028+287 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | AGTGT | A | 34 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(31): Show |
34 | HG00408.hp1 HG00558.hp1 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.2028+2868_2028+287 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | AGTGTGT | A | 12 | a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show |
12 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(9): Show |
intron_variant | MODIFIER | c.2028+2866_2028+287 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | AGTGTGTG others(1): Show |
A | 4 | a0001c0001t0001g0066 a0002c0002t0001g0062 a0002c0002t0001g0063 others(1): Show |
4 | HG01069.hp2 HG01071.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.2028+2864_2028+287 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654863 | AGTGTGTG others(3): Show |
A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0156 |
2 | HG03471.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.2028+2862_2028+287 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654863 | ||||||
| chr2:135654902 | G | A | 83 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(80): Show |
83 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.2028+2870G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135654902 | |||||||
| chr2:135654902 | G | GTA | 8 | a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0214 others(5): Show |
8 | HG01978.hp2 HG02132.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.2028+2871_2028+287 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654902 | ||||||
| chr2:135654902 | G | GTGTA | 7 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2028+2871_2028+287 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654902 | ||||||
| chr2:135654902 | G | GTGTGTA | 9 | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 others(6): Show |
9 | HG02647.hp1 HG02809.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.2028+2871_2028+287 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654902 | ||||||
| chr2:135654902 | G | GTGTGTGT others(3): Show |
3 | a0001c0001t0001g0220 a0003c0003t0001g0060 a0003c0003t0001g0061 |
3 | HG02622.hp2 HG03491.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.2028+2871_2028+287 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654902 | ||||||
| chr2:135654902 | G | GTGTGTGT others(5): Show |
1 | a0003c0003t0001g0011 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2028+2871_2028+287 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135654902 | ||||||
| chr2:135655529 | T | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2028+3497T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655529 | |||||||
| chr2:135655546 | A | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2028+3514A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655546 | |||||||
| chr2:135655655 | C | T | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.2028+3623C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655655 | |||||||
| chr2:135655664 | G | A | 1 | a0003c0003t0001g0191 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2028+3632G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655664 | |||||||
| chr2:135655674 | T | C | 58 | a0001c0001t0001g0052 a0001c0001t0001g0136 a0002c0002t0001g0009 others(55): Show |
58 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.2028+3642T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655674 | |||||||
| chr2:135655745 | C | T | 18 | a0003c0003t0001g0029 a0003c0003t0001g0033 a0003c0003t0001g0190 others(15): Show |
18 | HG00741.hp1 HG01256.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.2028+3713C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655745 | |||||||
| chr2:135655763 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2028+3731G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655763 | |||||||
| chr2:135655789 | T | C | 194 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(191): Show |
194 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(191): Show |
intron_variant | MODIFIER | c.2028+3757T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655789 | |||||||
| chr2:135655859 | A | G | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2028+3827A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135655859 | |||||||
| chr2:135656012 | T | C | 1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.2028+3980T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656012 | |||||||
| chr2:135656048 | C | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2028+4016C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656048 | |||||||
| chr2:135656080 | A | G | 3 | a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0001g0132 |
3 | HG00741.hp2 HG01884.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.2028+4048A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656080 | |||||||
| chr2:135656138 | C | T | 3 | a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0053 |
3 | HG02280.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2028+4106C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656138 | |||||||
| chr2:135656142 | CA | C | 113 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
113 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(110): Show |
intron_variant | MODIFIER | c.2028+4111delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656142 | |||||||
| chr2:135656151 | TTC | T | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2028+4123_2028+412 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135656151 | ||||||
| chr2:135656238 | T | G | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2028+4206T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656238 | |||||||
| chr2:135656277 | T | C | 58 | a0001c0001t0001g0052 a0001c0001t0001g0136 a0002c0002t0001g0009 others(55): Show |
58 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.2028+4245T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656277 | |||||||
| chr2:135656345 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2028+4313A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656345 | |||||||
| chr2:135656466 | CT | C | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.2028+4445delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135656466 | ||||||
| chr2:135656527 | A | G | 2 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | HG02559.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2028+4495A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656527 | |||||||
| chr2:135656625 | CT | C | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2028+4596delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135656625 | ||||||
| chr2:135656732 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2029-4538T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135656732 | |||||||
| chr2:135657025 | G | A | 1 | a0007c0007t0001g0170 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2029-4245G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657025 | |||||||
| chr2:135657049 | G | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2029-4221G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657049 | |||||||
| chr2:135657076 | A | G | 1 | a0001c0001t0001g0214 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2029-4194A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657076 | |||||||
| chr2:135657200 | C | T | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2029-4070C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657200 | |||||||
| chr2:135657360 | G | A | 1 | a0001c0001t0002g0120 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2029-3910G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657360 | |||||||
| chr2:135657410 | CA | C | 26 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show |
26 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.2029-3844delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135657410 | ||||||
| chr2:135657463 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2029-3807A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657463 | |||||||
| chr2:135657555 | C | T | 1 | a0003c0003t0001g0199 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2029-3715C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657555 | |||||||
| chr2:135657634 | C | T | 3 | a0002c0002t0001g0138 a0002c0002t0001g0157 a0002c0002t0001g0162 |
3 | HG02165.hp1 NA18971.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2029-3636C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657634 | |||||||
| chr2:135657647 | A | G | 57 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.2029-3623A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135657647 | |||||||
| chr2:135658111 | G | GTAAACAT others(11): Show |
1 | a0002c0002t0001g0118 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.2029-3158_2029-314 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135658111 | ||||||
| chr2:135658291 | G | A | 31 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(28): Show |
31 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.2029-2979G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135658291 | |||||||
| chr2:135658420 | C | G | 1 | a0001c0001t0001g0209 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2029-2850C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135658420 | |||||||
| chr2:135658524 | C | T | 1 | a0002c0002t0001g0141 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2029-2746C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135658524 | |||||||
| chr2:135658694 | C | A | 18 | a0003c0003t0001g0029 a0003c0003t0001g0033 a0003c0003t0001g0190 others(15): Show |
18 | HG00741.hp1 HG01256.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.2029-2576C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135658694 | |||||||
| chr2:135658837 | A | T | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2029-2433A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135658837 | |||||||
| chr2:135658963 | G | A | 50 | a0002c0002t0001g0009 a0002c0002t0001g0056 a0002c0002t0001g0058 others(47): Show |
50 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(47): Show |
intron_variant | MODIFIER | c.2029-2307G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135658963 | |||||||
| chr2:135659049 | C | CTG | 16 | a0001c0001t0001g0038 a0001c0001t0001g0082 a0001c0001t0001g0125 others(13): Show |
16 | HG00408.hp2 HG00735.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.2029-2183_2029-218 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTG | 15 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(12): Show |
15 | HG02559.hp1 HG02895.hp2 HG02897.hp1 others(12): Show |
intron_variant | MODIFIER | c.2029-2185_2029-218 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTGTG | 38 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(35): Show |
38 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(35): Show |
intron_variant | MODIFIER | c.2029-2187_2029-218 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTGTGT others(1): Show |
22 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0047 others(19): Show |
22 | HG01069.hp2 HG01071.hp1 HG01978.hp2 others(19): Show |
intron_variant | MODIFIER | c.2029-2189_2029-218 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTGTGT others(3): Show |
30 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(27): Show |
30 | HG00621.hp1 HG00735.hp1 HG01243.hp2 others(27): Show |
intron_variant | MODIFIER | c.2029-2191_2029-218 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTGTGT others(5): Show |
9 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(6): Show |
9 | HG00408.hp1 HG00558.hp1 HG03491.hp2 others(6): Show |
intron_variant | MODIFIER | c.2029-2193_2029-218 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTGTGT others(7): Show |
4 | a0002c0002t0001g0137 a0002c0002t0001g0150 a0003c0003t0001g0011 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 NA19088.hp2 others(1): Show |
intron_variant | MODIFIER | c.2029-2195_2029-218 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659049 | C | CTGTGTGT others(9): Show |
2 | a0003c0003t0001g0060 a0003c0003t0001g0061 |
2 | HG03491.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.2029-2197_2029-218 others(20): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659049 | ||||||
| chr2:135659071 | G | GTGTGTGT others(3): Show |
51 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(48): Show |
51 | HG00741.hp1 HG01256.hp2 HG01346.hp2 others(48): Show |
intron_variant | MODIFIER | c.2029-2190_2029-218 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659071 | ||||||
| chr2:135659071 | G | GTGTGTGT others(5): Show |
14 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(11): Show |
14 | HG01433.hp2 HG02109.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.2029-2188_2029-218 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659071 | ||||||
| chr2:135659071 | G | GTGTGTGT others(7): Show |
5 | a0001c0001t0001g0226 a0001c0001t0001g0230 a0003c0003t0001g0033 others(2): Show |
5 | HG02965.hp2 HG02976.hp2 NA18979.hp2 others(2): Show |
intron_variant | MODIFIER | c.2029-2186_2029-218 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659071 | ||||||
| chr2:135659071 | G | GTGTGTGT others(9): Show |
1 | a0001c0001t0001g0231 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2029-2184_2029-218 others(20): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135659071 | ||||||
| chr2:135659088 | T | TGTGTGTG others(4): Show |
2 | a0001c0001t0001g0046 a0002c0002t0001g0100 |
2 | HG03669.hp1 NA18947.hp2 |
intron_variant | MODIFIER | c.2029-2182_2029-218 others(15): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659088 | |||||||
| chr2:135659088 | T | TGTGTGTG others(10): Show |
1 | a0002c0002t0001g0166 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2029-2182_2029-218 others(21): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659088 | |||||||
| chr2:135659139 | C | T | 1 | a0001c0001t0001g0209 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2029-2131C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659139 | |||||||
| chr2:135659196 | C | G | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2029-2074C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659196 | |||||||
| chr2:135659285 | T | C | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2029-1985T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659285 | |||||||
| chr2:135659371 | C | T | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2029-1899C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659371 | |||||||
| chr2:135659389 | C | T | 113 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
113 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(110): Show |
intron_variant | MODIFIER | c.2029-1881C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659389 | |||||||
| chr2:135659632 | C | G | 5 | a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 others(2): Show |
5 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.2029-1638C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659632 | |||||||
| chr2:135659875 | A | G | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2029-1395A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659875 | |||||||
| chr2:135659898 | T | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2029-1372T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135659898 | |||||||
| chr2:135660090 | G | A | 30 | a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0020 others(27): Show |
30 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(27): Show |
intron_variant | MODIFIER | c.2029-1180G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660090 | |||||||
| chr2:135660247 | G | T | 1 | a0001c0001t0004g0084 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2029-1023G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660247 | |||||||
| chr2:135660255 | T | G | 1 | a0001c0001t0001g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2029-1015T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660255 | |||||||
| chr2:135660471 | A | G | 1 | a0001c0001t0001g0220 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2029-799A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660471 | |||||||
| chr2:135660633 | G | C | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2029-637G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660633 | |||||||
| chr2:135660698 | T | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2029-572T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660698 | |||||||
| chr2:135660772 | G | T | 25 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.2029-498G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660772 | |||||||
| chr2:135660778 | A | G | 194 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(191): Show |
194 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(191): Show |
intron_variant | MODIFIER | c.2029-492A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660778 | |||||||
| chr2:135660845 | C | CA | 62 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(59): Show |
62 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.2029-411dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135660845 | ||||||
| chr2:135660860 | C | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2029-410C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135660860 | |||||||
| chr2:135661105 | CTTTG | C | 37 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
37 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.2029-160_2029-157d others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | 135661105 | ||||||
| chr2:135661124 | A | T | 3 | a0002c0002t0001g0158 a0002c0002t0001g0165 a0002c0002t0001g0177 |
3 | NA18939.hp1 NA18941.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.2029-146A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135661124 | |||||||
| chr2:135661171 | T | C | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.2029-99T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 18/26 | chr2 | 135661171 | |||||||
| chr2:135661478 | C | G | 1 | a0003c0003t0001g0190 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2152+85C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135661478 | |||||||
| chr2:135661533 | G | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+140G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135661533 | |||||||
| chr2:135661637 | G | A | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2152+244G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135661637 | |||||||
| chr2:135662053 | T | A | 1 | a0003c0003t0001g0026 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2152+660T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662053 | |||||||
| chr2:135662171 | C | A | 1 | a0001c0001t0001g0173 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2152+778C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662171 | |||||||
| chr2:135662327 | T | C | 1 | a0002c0002t0001g0165 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.2152+934T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662327 | |||||||
| chr2:135662391 | A | G | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2152+998A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662391 | |||||||
| chr2:135662439 | A | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2152+1046A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662439 | |||||||
| chr2:135662653 | A | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+1260A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662653 | |||||||
| chr2:135662658 | G | T | 11 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show |
11 | HG01175.hp1 HG01884.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.2152+1265G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662658 | |||||||
| chr2:135662727 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+1334G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662727 | |||||||
| chr2:135662791 | A | G | 2 | a0001c0001t0001g0226 a0001c0001t0001g0230 |
2 | HG02965.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2152+1398A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662791 | |||||||
| chr2:135662835 | T | C | 1 | a0002c0002t0001g0161 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2152+1442T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662835 | |||||||
| chr2:135662881 | G | A | 1 | a0003c0003t0001g0021 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2152+1488G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135662881 | |||||||
| chr2:135663053 | C | A | 1 | a0003c0003t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2152+1660C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663053 | |||||||
| chr2:135663120 | A | G | 194 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(191): Show |
194 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(191): Show |
intron_variant | MODIFIER | c.2152+1727A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663120 | |||||||
| chr2:135663134 | C | CA | 27 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(24): Show |
27 | HG00408.hp1 HG00558.hp1 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.2152+1762dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135663134 | ||||||
| chr2:135663134 | CAA | C | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2152+1761_2152+176 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135663134 | ||||||
| chr2:135663134 | CAAAA | C | 75 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(72): Show |
75 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(72): Show |
intron_variant | MODIFIER | c.2152+1759_2152+176 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135663134 | ||||||
| chr2:135663134 | CAAAAA | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
6 | HG01261.hp1 HG02559.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.2152+1758_2152+176 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135663134 | ||||||
| chr2:135663150 | AAAAAAT | A | 31 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(28): Show |
31 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.2152+1759_2152+176 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135663150 | ||||||
| chr2:135663154 | A | T | 1 | a0003c0003t0001g0201 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2152+1761A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663154 | |||||||
| chr2:135663155 | AT | A | 3 | a0002c0002t0001g0063 a0002c0002t0001g0165 a0002c0002t0001g0187 |
3 | HG01069.hp2 HG02451.hp1 NA18939.hp1 |
intron_variant | MODIFIER | c.2152+1763delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663155 | |||||||
| chr2:135663156 | T | A | 55 | a0001c0001t0001g0090 a0001c0001t0001g0136 a0002c0002t0001g0009 others(52): Show |
55 | HG00621.hp1 HG00735.hp1 HG01071.hp1 others(52): Show |
intron_variant | MODIFIER | c.2152+1763T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663156 | |||||||
| chr2:135663306 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2152+1913G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663306 | |||||||
| chr2:135663338 | A | C | 43 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0062 others(40): Show |
43 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.2152+1945A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663338 | |||||||
| chr2:135663382 | CT | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+1991delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135663382 | ||||||
| chr2:135663569 | T | C | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2152+2176T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663569 | |||||||
| chr2:135663684 | A | C | 1 | a0006c0005t0001g0072 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2152+2291A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663684 | |||||||
| chr2:135663739 | G | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2152+2346G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663739 | |||||||
| chr2:135663753 | A | G | 156 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(153): Show |
156 | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(153): Show |
intron_variant | MODIFIER | c.2152+2360A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663753 | |||||||
| chr2:135663798 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+2405G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663798 | |||||||
| chr2:135663890 | C | T | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.2152+2497C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663890 | |||||||
| chr2:135663902 | C | T | 1 | a0001c0001t0001g0222 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2152+2509C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663902 | |||||||
| chr2:135663978 | G | A | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2152+2585G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135663978 | |||||||
| chr2:135664019 | G | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2152+2626G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135664019 | |||||||
| chr2:135664031 | C | CA | 185 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 others(182): Show |
185 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(182): Show |
intron_variant | MODIFIER | c.2152+2656dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135664031 | ||||||
| chr2:135664031 | C | CAA | 6 | a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0002g0119 others(3): Show |
6 | HG01981.hp2 HG02280.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.2152+2655_2152+265 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135664031 | ||||||
| chr2:135664035 | A | AG | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+2642_2152+264 others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135664035 | |||||||
| chr2:135664243 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2152+2850C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135664243 | |||||||
| chr2:135664354 | GT | G | 10 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | HG00639.hp2 HG03017.hp1 HG03704.hp1 others(7): Show |
intron_variant | MODIFIER | c.2152+2970delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135664354 | ||||||
| chr2:135664406 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2152+3013A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135664406 | |||||||
| chr2:135664564 | T | G | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2152+3171T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135664564 | |||||||
| chr2:135664601 | A | T | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2152+3208A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135664601 | |||||||
| chr2:135665019 | CAT | C | 2 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | HG02559.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2152+3627_2152+362 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665019 | |||||||
| chr2:135665214 | C | T | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2152+3821C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665214 | |||||||
| chr2:135665260 | G | A | 5 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0144 others(2): Show |
5 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.2152+3867G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665260 | |||||||
| chr2:135665318 | T | TTTA | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2152+3931_2152+393 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135665318 | ||||||
| chr2:135665439 | A | G | 1 | a0005c0006t0003g0043 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2152+4046A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665439 | |||||||
| chr2:135665746 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2152+4353G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665746 | |||||||
| chr2:135665849 | G | A | 2 | a0001c0001t0001g0079 a0001c0001t0001g0082 |
2 | HG00735.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2152+4456G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665849 | |||||||
| chr2:135665934 | A | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2152+4541A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135665934 | |||||||
| chr2:135666106 | A | G | 5 | a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 others(2): Show |
5 | HG00558.hp2 HG00621.hp2 NA18747.hp1 others(2): Show |
intron_variant | MODIFIER | c.2152+4713A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666106 | |||||||
| chr2:135666218 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2152+4825G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666218 | |||||||
| chr2:135666228 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0007 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2152+4835C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666228 | |||||||
| chr2:135666334 | C | T | 79 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(76): Show |
79 | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.2152+4941C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666334 | |||||||
| chr2:135666340 | A | G | 2 | a0002c0002t0001g0056 a0002c0002t0001g0058 |
2 | HG03041.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2152+4947A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666340 | |||||||
| chr2:135666660 | T | C | 1 | a0004c0004t0001g0122 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2152+5267T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666660 | |||||||
| chr2:135666718 | G | A | 1 | a0002c0002t0001g0155 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2152+5325G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666718 | |||||||
| chr2:135666821 | A | G | 1 | a0002c0002t0001g0151 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.2152+5428A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666821 | |||||||
| chr2:135666860 | A | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2152+5467A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666860 | |||||||
| chr2:135666921 | T | TA | 11 | a0001c0001t0001g0066 a0001c0001t0001g0230 a0002c0002t0001g0147 others(8): Show |
11 | HG02165.hp1 HG02965.hp2 HG02976.hp1 others(8): Show |
intron_variant | MODIFIER | c.2152+5543dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135666921 | ||||||
| chr2:135666921 | T | TAA | 173 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(170): Show |
173 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(170): Show |
intron_variant | MODIFIER | c.2152+5542_2152+554 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135666921 | ||||||
| chr2:135666921 | T | TAAA | 10 | a0001c0001t0001g0209 a0001c0001t0002g0102 a0001c0001t0002g0103 others(7): Show |
10 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.2152+5541_2152+554 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135666921 | ||||||
| chr2:135666978 | T | C | 2 | a0001c0001t0001g0210 a0001c0001t0001g0211 |
2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2152+5585T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135666978 | |||||||
| chr2:135667124 | C | G | 1 | a0002c0002t0001g0143 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2152+5731C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135667124 | |||||||
| chr2:135667295 | T | TA | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2152+5903dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135667295 | ||||||
| chr2:135667395 | T | TA | 42 | a0001c0001t0001g0136 a0002c0002t0001g0062 a0002c0002t0001g0063 others(39): Show |
42 | HG00621.hp1 HG01069.hp2 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.2152+6013dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135667395 | ||||||
| chr2:135667395 | T | TAA | 66 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(63): Show |
66 | HG00408.hp1 HG00558.hp1 HG00639.hp2 others(63): Show |
intron_variant | MODIFIER | c.2152+6012_2152+601 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135667395 | ||||||
| chr2:135667395 | T | TAAA | 52 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(49): Show |
52 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(49): Show |
intron_variant | MODIFIER | c.2152+6011_2152+601 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135667395 | ||||||
| chr2:135667395 | T | TAAAA | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2152+6010_2152+601 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135667395 | ||||||
| chr2:135667557 | A | T | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2152+6164A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135667557 | |||||||
| chr2:135667560 | T | C | 1 | a0001c0001t0001g0156 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2152+6167T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135667560 | |||||||
| chr2:135667792 | G | T | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2152+6399G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135667792 | |||||||
| chr2:135668044 | T | C | 1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.2152+6651T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135668044 | |||||||
| chr2:135668421 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2153-6911A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135668421 | |||||||
| chr2:135668481 | G | A | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2153-6851G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135668481 | |||||||
| chr2:135668502 | G | A | 2 | a0001c0001t0001g0095 a0010c0010t0001g0094 |
2 | HG02559.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2153-6830G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135668502 | |||||||
| chr2:135669011 | G | A | 2 | a0002c0002t0001g0100 a0002c0002t0001g0118 |
2 | HG03669.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.2153-6321G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669011 | |||||||
| chr2:135669118 | T | A | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-6214T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669118 | |||||||
| chr2:135669120 | A | T | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-6212A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669120 | |||||||
| chr2:135669122 | A | C | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-6210A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669122 | |||||||
| chr2:135669133 | G | A | 1 | a0002c0002t0001g0028 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2153-6199G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669133 | |||||||
| chr2:135669229 | A | G | 1 | a0003c0003t0001g0011 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2153-6103A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669229 | |||||||
| chr2:135669266 | A | G | 1 | a0001c0001t0001g0049 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.2153-6066A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135669266 | |||||||
| chr2:135670010 | G | A | 2 | a0003c0003t0003g0030 a0003c0003t0003g0040 |
2 | HG01978.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2153-5322G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670010 | |||||||
| chr2:135670138 | C | CA | 20 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(17): Show |
20 | HG00639.hp2 HG00741.hp2 HG02056.hp1 others(17): Show |
intron_variant | MODIFIER | c.2153-5174dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135670138 | ||||||
| chr2:135670138 | CA | C | 35 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(32): Show |
35 | HG01192.hp1 HG01433.hp1 HG01928.hp1 others(32): Show |
intron_variant | MODIFIER | c.2153-5174delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135670138 | ||||||
| chr2:135670138 | CAA | C | 43 | a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 others(40): Show |
43 | HG00741.hp1 HG01346.hp2 HG01433.hp2 others(40): Show |
intron_variant | MODIFIER | c.2153-5175_2153-517 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135670138 | ||||||
| chr2:135670155 | A | AG | 37 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
37 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.2153-5177_2153-517 others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670155 | |||||||
| chr2:135670157 | A | C | 7 | a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0108 others(4): Show |
7 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.2153-5175A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670157 | |||||||
| chr2:135670159 | C | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2153-5173C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670159 | |||||||
| chr2:135670175 | G | A | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2153-5157G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670175 | |||||||
| chr2:135670263 | G | A | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2153-5069G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670263 | |||||||
| chr2:135670832 | C | T | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2153-4500C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670832 | |||||||
| chr2:135670890 | A | C | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2153-4442A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670890 | |||||||
| chr2:135670974 | G | A | 1 | a0006c0005t0001g0097 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2153-4358G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135670974 | |||||||
| chr2:135671138 | A | G | 1 | a0001c0001t0001g0210 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2153-4194A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671138 | |||||||
| chr2:135671272 | T | C | 1 | a0001c0001t0001g0211 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2153-4060T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671272 | |||||||
| chr2:135671508 | T | C | 1 | a0001c0001t0005g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2153-3824T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671508 | |||||||
| chr2:135671518 | C | T | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.2153-3814C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671518 | |||||||
| chr2:135671621 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2153-3711G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671621 | |||||||
| chr2:135671701 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2153-3631C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671701 | |||||||
| chr2:135671796 | T | C | 220 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(217): Show |
220 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(217): Show |
intron_variant | MODIFIER | c.2153-3536T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671796 | |||||||
| chr2:135671869 | G | A | 34 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(31): Show |
34 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.2153-3463G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671869 | |||||||
| chr2:135671916 | C | T | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-3416C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135671916 | |||||||
| chr2:135672137 | G | A | 25 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.2153-3195G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672137 | |||||||
| chr2:135672287 | C | T | 58 | a0001c0001t0001g0052 a0001c0001t0001g0136 a0002c0002t0001g0009 others(55): Show |
58 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.2153-3045C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672287 | |||||||
| chr2:135672482 | A | G | 1 | a0003c0003t0001g0202 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.2153-2850A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672482 | |||||||
| chr2:135672492 | G | A | 2 | a0002c0002t0001g0141 a0002c0002t0001g0161 |
2 | HG03491.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.2153-2840G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672492 | |||||||
| chr2:135672585 | A | G | 1 | a0001c0001t0002g0149 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2153-2747A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672585 | |||||||
| chr2:135672624 | G | A | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-2708G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672624 | |||||||
| chr2:135672673 | A | G | 9 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show |
9 | HG03017.hp1 HG03704.hp1 NA18947.hp2 others(6): Show |
intron_variant | MODIFIER | c.2153-2659A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672673 | |||||||
| chr2:135672843 | C | T | 3 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0171 |
3 | HG00735.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2153-2489C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672843 | |||||||
| chr2:135672909 | C | T | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2153-2423C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135672909 | |||||||
| chr2:135673022 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2153-2310G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673022 | |||||||
| chr2:135673103 | AAAAC | A | 18 | a0003c0003t0001g0029 a0003c0003t0001g0033 a0003c0003t0001g0190 others(15): Show |
18 | HG00741.hp1 HG01256.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.2153-2217_2153-221 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135673103 | ||||||
| chr2:135673221 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2153-2111G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673221 | |||||||
| chr2:135673232 | T | C | 2 | a0001c0001t0001g0018 a0001c0001t0007g0019 |
2 | HG03017.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.2153-2100T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673232 | |||||||
| chr2:135673260 | A | G | 3 | a0003c0003t0001g0031 a0003c0003t0001g0054 a0003c0003t0001g0059 |
3 | NA18939.hp2 NA18959.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.2153-2072A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673260 | |||||||
| chr2:135673296 | T | A | 192 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
192 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(189): Show |
intron_variant | MODIFIER | c.2153-2036T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673296 | |||||||
| chr2:135673368 | A | T | 6 | a0002c0002t0001g0104 a0002c0002t0001g0159 a0002c0002t0001g0160 others(3): Show |
6 | HG01943.hp1 NA18967.hp2 NA18968.hp2 others(3): Show |
intron_variant | MODIFIER | c.2153-1964A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673368 | |||||||
| chr2:135673782 | A | C | 1 | a0002c0002t0001g0009 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.2153-1550A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135673782 | |||||||
| chr2:135674237 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2153-1095T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674237 | |||||||
| chr2:135674331 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2153-1001A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674331 | |||||||
| chr2:135674533 | G | A | 192 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
192 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(189): Show |
intron_variant | MODIFIER | c.2153-799G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674533 | |||||||
| chr2:135674551 | G | A | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.2153-781G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674551 | |||||||
| chr2:135674695 | T | G | 2 | a0002c0002t0001g0186 a0002c0002t0001g0187 |
2 | HG02451.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2153-637T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674695 | |||||||
| chr2:135674783 | T | C | 1 | a0002c0002t0001g0009 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.2153-549T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674783 | |||||||
| chr2:135674904 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2153-428T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674904 | |||||||
| chr2:135674938 | G | GT | 8 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show |
8 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(5): Show |
intron_variant | MODIFIER | c.2153-379dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135674938 | ||||||
| chr2:135674938 | GT | G | 11 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
11 | HG01243.hp2 HG01261.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2153-379delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | 135674938 | ||||||
| chr2:135674960 | G | A | 1 | a0006c0005t0006g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2153-372G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674960 | |||||||
| chr2:135674962 | G | A | 1 | a0001c0001t0001g0210 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2153-370G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135674962 | |||||||
| chr2:135675084 | G | T | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2153-248G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 19/26 | chr2 | 135675084 | |||||||
| chr2:135675518 | A | C | 1 | a0001c0001t0001g0081 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2307+32A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135675518 | |||||||
| chr2:135675653 | C | CTT | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2307+167_2307+168i others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135675653 | |||||||
| chr2:135675905 | G | C | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2307+419G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135675905 | |||||||
| chr2:135675952 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2307+466T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135675952 | |||||||
| chr2:135676116 | A | G | 5 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0144 others(2): Show |
5 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.2307+630A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676116 | |||||||
| chr2:135676120 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2307+634G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676120 | |||||||
| chr2:135676170 | A | G | 50 | a0002c0002t0001g0009 a0002c0002t0001g0056 a0002c0002t0001g0058 others(47): Show |
50 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(47): Show |
intron_variant | MODIFIER | c.2307+684A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676170 | |||||||
| chr2:135676195 | G | A | 1 | a0002c0002t0001g0166 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2307+709G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676195 | |||||||
| chr2:135676202 | A | G | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2307+716A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676202 | |||||||
| chr2:135676220 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2307+734G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676220 | |||||||
| chr2:135676291 | TG | T | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2307+808delG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135676291 | ||||||
| chr2:135676313 | T | A | 12 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(9): Show |
12 | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.2307+827T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676313 | |||||||
| chr2:135676332 | G | A | 6 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG01243.hp2 HG02257.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.2307+846G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676332 | |||||||
| chr2:135676382 | G | T | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2307+896G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676382 | |||||||
| chr2:135676965 | A | G | 1 | a0003c0003t0001g0032 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2307+1479A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135676965 | |||||||
| chr2:135677018 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2307+1532T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677018 | |||||||
| chr2:135677083 | T | C | 1 | a0001c0001t0001g0124 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.2307+1597T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677083 | |||||||
| chr2:135677210 | G | A | 1 | a0003c0003t0001g0044 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.2307+1724G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677210 | |||||||
| chr2:135677216 | C | A | 1 | a0002c0002t0001g0100 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2307+1730C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677216 | |||||||
| chr2:135677224 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2307+1738G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677224 | |||||||
| chr2:135677563 | G | GT | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2307+2086dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135677563 | ||||||
| chr2:135677632 | T | C | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2307+2146T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677632 | |||||||
| chr2:135677794 | C | G | 3 | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 |
3 | NA18966.hp1 NA18971.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.2307+2308C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677794 | |||||||
| chr2:135677823 | C | A | 2 | a0001c0001t0001g0079 a0001c0001t0001g0082 |
2 | HG00735.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2307+2337C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677823 | |||||||
| chr2:135677921 | C | T | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2308-2252C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677921 | |||||||
| chr2:135677956 | C | T | 80 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(77): Show |
80 | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.2308-2217C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677956 | |||||||
| chr2:135677989 | G | A | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2308-2184G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135677989 | |||||||
| chr2:135678013 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2308-2160G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678013 | |||||||
| chr2:135678121 | C | T | 1 | a0003c0003t0001g0034 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2308-2052C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678121 | |||||||
| chr2:135678131 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2308-2042A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678131 | |||||||
| chr2:135678165 | A | G | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2308-2008A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678165 | |||||||
| chr2:135678166 | T | C | 80 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(77): Show |
80 | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.2308-2007T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678166 | |||||||
| chr2:135678295 | A | G | 1 | a0002c0002t0001g0187 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2308-1878A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678295 | |||||||
| chr2:135678695 | C | T | 1 | a0005c0006t0001g0022 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2308-1478C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678695 | |||||||
| chr2:135678747 | T | C | 57 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.2308-1426T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678747 | |||||||
| chr2:135678757 | CT | C | 111 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(108): Show |
111 | HG00408.hp2 HG00741.hp1 HG00741.hp2 others(108): Show |
intron_variant | MODIFIER | c.2308-1396delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135678757 | ||||||
| chr2:135678757 | CTT | C | 79 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show |
79 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.2308-1397_2308-139 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135678757 | ||||||
| chr2:135678757 | CTTT | C | 17 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0102 others(14): Show |
17 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.2308-1398_2308-139 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135678757 | ||||||
| chr2:135678829 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2308-1344C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678829 | |||||||
| chr2:135678870 | G | A | 2 | a0003c0003t0001g0201 a0003c0003t0001g0202 |
2 | HG02165.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.2308-1303G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135678870 | |||||||
| chr2:135678883 | CTGAG | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2308-1288_2308-128 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135678883 | ||||||
| chr2:135679066 | CT | C | 14 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(11): Show |
14 | HG00639.hp2 HG02055.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.2308-1078delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135679066 | ||||||
| chr2:135679066 | CTT | C | 42 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(39): Show |
42 | HG00741.hp1 HG01346.hp2 HG01433.hp2 others(39): Show |
intron_variant | MODIFIER | c.2308-1079_2308-107 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135679066 | ||||||
| chr2:135679066 | CTTT | C | 128 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(125): Show |
128 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(125): Show |
intron_variant | MODIFIER | c.2308-1080_2308-107 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135679066 | ||||||
| chr2:135679066 | CTTTT | C | 33 | a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0071 others(30): Show |
33 | HG00741.hp2 HG01069.hp1 HG01071.hp2 others(30): Show |
intron_variant | MODIFIER | c.2308-1081_2308-107 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135679066 | ||||||
| chr2:135679066 | CTTTTT | C | 11 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(8): Show |
11 | HG00408.hp2 HG02895.hp2 HG02897.hp1 others(8): Show |
intron_variant | MODIFIER | c.2308-1082_2308-107 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | 135679066 | ||||||
| chr2:135679082 | T | C | 1 | a0002c0002t0001g0189 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2308-1091T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135679082 | |||||||
| chr2:135679277 | A | G | 1 | a0001c0001t0001g0211 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2308-896A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135679277 | |||||||
| chr2:135679290 | C | T | 1 | a0003c0003t0001g0203 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2308-883C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135679290 | |||||||
| chr2:135679602 | T | G | 1 | a0002c0002t0001g0155 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2308-571T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135679602 | |||||||
| chr2:135679937 | A | G | 192 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
192 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(189): Show |
intron_variant | MODIFIER | c.2308-236A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135679937 | |||||||
| chr2:135679948 | C | T | 1 | a0001c0001t0001g0004 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2308-225C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135679948 | |||||||
| chr2:135680045 | A | G | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2308-128A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 20/26 | chr2 | 135680045 | |||||||
| chr2:135680487 | C | T | 2 | a0001c0001t0001g0079 a0001c0001t0001g0082 |
2 | HG00735.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2459+163C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135680487 | |||||||
| chr2:135680498 | G | A | 1 | a0001c0001t0004g0086 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.2459+174G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135680498 | |||||||
| chr2:135680508 | G | A | 113 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
113 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(110): Show |
intron_variant | MODIFIER | c.2459+184G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135680508 | |||||||
| chr2:135680898 | A | G | 37 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
37 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.2459+574A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135680898 | |||||||
| chr2:135680947 | G | A | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2459+623G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135680947 | |||||||
| chr2:135681309 | A | C | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2459+985A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681309 | |||||||
| chr2:135681321 | G | C | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2459+997G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681321 | |||||||
| chr2:135681380 | G | C | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2459+1056G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681380 | |||||||
| chr2:135681520 | C | T | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2459+1196C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681520 | |||||||
| chr2:135681690 | C | T | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.2459+1366C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681690 | |||||||
| chr2:135681846 | A | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459+1522A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681846 | |||||||
| chr2:135681900 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.2459+1576G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681900 | |||||||
| chr2:135681947 | A | C | 200 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(197): Show |
200 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(197): Show |
intron_variant | MODIFIER | c.2459+1623A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681947 | |||||||
| chr2:135681981 | C | T | 1 | a0001c0001t0002g0120 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2459+1657C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135681981 | |||||||
| chr2:135682178 | A | G | 1 | a0002c0002t0001g0176 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2459+1854A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682178 | |||||||
| chr2:135682235 | G | T | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2459+1911G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682235 | |||||||
| chr2:135682301 | T | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+1977T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682301 | |||||||
| chr2:135682519 | A | G | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2459+2195A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682519 | |||||||
| chr2:135682688 | A | G | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459+2364A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682688 | |||||||
| chr2:135682730 | C | T | 58 | a0001c0001t0001g0052 a0001c0001t0001g0136 a0002c0002t0001g0009 others(55): Show |
58 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(55): Show |
intron_variant | MODIFIER | c.2459+2406C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682730 | |||||||
| chr2:135682769 | G | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2459+2445G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135682769 | |||||||
| chr2:135683296 | G | A | 1 | a0003c0003t0001g0195 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2459+2972G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683296 | |||||||
| chr2:135683415 | G | A | 8 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show |
8 | HG02559.hp1 HG02895.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459+3091G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683415 | |||||||
| chr2:135683515 | C | T | 2 | a0003c0003t0001g0200 a0003c0003t0001g0203 |
2 | NA18979.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.2459+3191C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683515 | |||||||
| chr2:135683541 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2459+3217A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683541 | |||||||
| chr2:135683553 | C | CA | 5 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0139 others(2): Show |
5 | HG02559.hp2 HG03139.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.2459+3248dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683553 | ||||||
| chr2:135683570 | A | AAAC | 37 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
37 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.2459+3248_2459+324 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683570 | ||||||
| chr2:135683570 | A | AAC | 147 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(144): Show |
147 | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(144): Show |
intron_variant | MODIFIER | c.2459+3247_2459+324 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683570 | ||||||
| chr2:135683570 | A | AC | 15 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
15 | HG00639.hp2 HG01928.hp1 HG02258.hp2 others(12): Show |
intron_variant | MODIFIER | c.2459+3246_2459+324 others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683570 | |||||||
| chr2:135683575 | C | A | 10 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | HG00639.hp2 HG03017.hp1 HG03704.hp1 others(7): Show |
intron_variant | MODIFIER | c.2459+3251C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683575 | |||||||
| chr2:135683662 | T | C | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2459+3338T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683662 | |||||||
| chr2:135683818 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2459+3494G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683818 | |||||||
| chr2:135683840 | A | G | 76 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0001g0213 others(73): Show |
76 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(73): Show |
intron_variant | MODIFIER | c.2459+3516A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683840 | |||||||
| chr2:135683867 | T | C | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2459+3543T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135683867 | |||||||
| chr2:135683953 | A | AATAC | 73 | a0001c0001t0001g0083 a0001c0001t0001g0131 a0001c0001t0001g0136 others(70): Show |
73 | HG00558.hp2 HG00621.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2459+3674_2459+367 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683953 | ||||||
| chr2:135683953 | A | AATACATA others(1): Show |
41 | a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0001g0098 others(38): Show |
41 | HG00639.hp1 HG00741.hp1 HG01256.hp2 others(38): Show |
intron_variant | MODIFIER | c.2459+3670_2459+367 others(12): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683953 | ||||||
| chr2:135683953 | A | AATACATA others(5): Show |
11 | a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0095 others(8): Show |
11 | HG01981.hp2 HG02258.hp2 HG02300.hp1 others(8): Show |
intron_variant | MODIFIER | c.2459+3666_2459+367 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683953 | ||||||
| chr2:135683969 | C | CATAA | 2 | a0003c0003t0001g0029 a0003c0003t0001g0033 |
2 | NA18967.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.2459+3648_2459+364 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135683969 | ||||||
| chr2:135684051 | A | G | 1 | a0002c0002t0001g0135 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2459+3727A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135684051 | |||||||
| chr2:135684369 | G | T | 10 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(7): Show |
10 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.2459+4045G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135684369 | |||||||
| chr2:135684378 | C | T | 1 | a0001c0001t0002g0129 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2459+4054C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135684378 | |||||||
| chr2:135684748 | G | T | 13 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(10): Show |
13 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(10): Show |
intron_variant | MODIFIER | c.2459+4424G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135684748 | |||||||
| chr2:135684995 | C | T | 1 | a0001c0001t0001g0184 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.2459+4671C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135684995 | |||||||
| chr2:135685188 | G | A | 20 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.2459+4864G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135685188 | |||||||
| chr2:135685269 | G | A | 1 | a0002c0002t0001g0141 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2459+4945G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135685269 | |||||||
| chr2:135685275 | C | T | 1 | a0001c0001t0001g0220 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2459+4951C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135685275 | |||||||
| chr2:135685435 | G | A | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2459+5111G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135685435 | |||||||
| chr2:135685597 | GTTTTCTC others(7): Show |
G | 1 | a0005c0006t0001g0022 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2459+5275_2459+528 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135685597 | ||||||
| chr2:135685918 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2459+5594T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135685918 | |||||||
| chr2:135685980 | C | T | 1 | a0001c0001t0001g0156 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2459+5656C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135685980 | |||||||
| chr2:135686067 | A | T | 1 | a0001c0001t0002g0119 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.2459+5743A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686067 | |||||||
| chr2:135686109 | C | T | 1 | a0003c0003t0001g0201 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2459+5785C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686109 | |||||||
| chr2:135686207 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2459+5883G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686207 | |||||||
| chr2:135686330 | A | T | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2459+6006A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686330 | |||||||
| chr2:135686357 | G | A | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2459+6033G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686357 | |||||||
| chr2:135686553 | C | T | 192 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
192 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(189): Show |
intron_variant | MODIFIER | c.2459+6229C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686553 | |||||||
| chr2:135686565 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2459+6241A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686565 | |||||||
| chr2:135686595 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2459+6271G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686595 | |||||||
| chr2:135686615 | G | T | 57 | a0001c0001t0001g0052 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.2459+6291G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686615 | |||||||
| chr2:135686695 | C | T | 3 | a0001c0001t0001g0095 a0001c0001t0001g0209 a0010c0010t0001g0094 |
3 | HG02559.hp1 HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2459+6371C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686695 | |||||||
| chr2:135686714 | A | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+6390A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686714 | |||||||
| chr2:135686759 | T | C | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2459+6435T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686759 | |||||||
| chr2:135686768 | A | G | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2459+6444A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686768 | |||||||
| chr2:135686868 | G | A | 2 | a0003c0003t0001g0200 a0003c0003t0001g0203 |
2 | NA18979.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.2459+6544G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686868 | |||||||
| chr2:135686934 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2459+6610C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686934 | |||||||
| chr2:135686972 | G | A | 30 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(27): Show |
30 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.2459+6648G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135686972 | |||||||
| chr2:135687056 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2459+6732G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687056 | |||||||
| chr2:135687120 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2459+6796G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687120 | |||||||
| chr2:135687137 | G | T | 1 | a0002c0002t0001g0028 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2459+6813G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687137 | |||||||
| chr2:135687415 | T | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+7091T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687415 | |||||||
| chr2:135687549 | TTCTCCAA others(65): Show |
T | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2459+7227_2459+729 others(76): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135687549 | ||||||
| chr2:135687730 | G | A | 1 | a0002c0002t0001g0058 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2459+7406G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687730 | |||||||
| chr2:135687820 | A | G | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2459+7496A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687820 | |||||||
| chr2:135687956 | C | T | 193 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
193 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(190): Show |
intron_variant | MODIFIER | c.2459+7632C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135687956 | |||||||
| chr2:135688268 | A | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+7944A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688268 | |||||||
| chr2:135688299 | G | A | 192 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
192 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(189): Show |
intron_variant | MODIFIER | c.2459+7975G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688299 | |||||||
| chr2:135688305 | A | T | 3 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 |
3 | HG02647.hp2 HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2459+7981A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688305 | |||||||
| chr2:135688547 | ATTG | A | 3 | a0002c0002t0001g0158 a0002c0002t0001g0165 a0002c0002t0001g0177 |
3 | NA18939.hp1 NA18941.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.2459+8228_2459+823 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135688547 | ||||||
| chr2:135688582 | T | A | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2459+8258T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688582 | |||||||
| chr2:135688636 | A | G | 1 | a0001c0001t0001g0050 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.2459+8312A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688636 | |||||||
| chr2:135688655 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2459+8331G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688655 | |||||||
| chr2:135688679 | G | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+8355G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688679 | |||||||
| chr2:135688743 | C | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2459+8419C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135688743 | |||||||
| chr2:135689089 | C | A | 8 | a0002c0002t0001g0009 a0002c0002t0001g0100 a0002c0002t0001g0118 others(5): Show |
8 | HG00621.hp1 HG03669.hp1 NA18969.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459+8765C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135689089 | |||||||
| chr2:135689194 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459+8870G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135689194 | |||||||
| chr2:135689894 | C | T | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2459+9570C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135689894 | |||||||
| chr2:135689914 | C | CTTTCAT | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2459+9596_2459+960 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135689914 | ||||||
| chr2:135690137 | T | C | 64 | a0001c0001t0001g0017 a0001c0001t0002g0102 a0001c0001t0002g0103 others(61): Show |
64 | HG00408.hp1 HG00558.hp1 HG00741.hp1 others(61): Show |
intron_variant | MODIFIER | c.2459+9813T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135690137 | |||||||
| chr2:135690192 | CT | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2459+9870delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135690192 | ||||||
| chr2:135690297 | G | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+9973G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135690297 | |||||||
| chr2:135690397 | C | G | 1 | a0010c0010t0001g0094 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2459+10073C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135690397 | |||||||
| chr2:135690572 | G | A | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2459+10248G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135690572 | |||||||
| chr2:135690717 | T | TTTTG | 197 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(194): Show |
197 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(194): Show |
intron_variant | MODIFIER | c.2459+10405_2459+10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135690717 | ||||||
| chr2:135690737 | T | G | 1 | a0003c0003t0001g0194 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2459+10413T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135690737 | |||||||
| chr2:135690978 | G | A | 1 | a0003c0003t0001g0025 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.2459+10654G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135690978 | |||||||
| chr2:135691197 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2459+10873C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691197 | |||||||
| chr2:135691285 | A | G | 57 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(54): Show |
57 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.2459+10961A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691285 | |||||||
| chr2:135691324 | T | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2459+11000T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691324 | |||||||
| chr2:135691421 | C | T | 1 | a0002c0002t0001g0179 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2459+11097C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691421 | |||||||
| chr2:135691520 | G | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+11196G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691520 | |||||||
| chr2:135691684 | G | A | 57 | a0001c0001t0001g0052 a0002c0002t0001g0009 a0002c0002t0001g0028 others(54): Show |
57 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.2459+11360G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691684 | |||||||
| chr2:135691735 | A | G | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.2459+11411A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691735 | |||||||
| chr2:135691834 | A | C | 1 | a0004c0004t0001g0121 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2459+11510A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691834 | |||||||
| chr2:135691910 | T | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2459+11586T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135691910 | |||||||
| chr2:135692101 | C | T | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+11777C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135692101 | |||||||
| chr2:135692132 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2459+11808G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135692132 | |||||||
| chr2:135692558 | C | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2459+12234C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135692558 | |||||||
| chr2:135692628 | C | T | 3 | a0002c0002t0001g0108 a0002c0002t0001g0143 a0002c0002t0001g0171 |
3 | HG00735.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2459+12304C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135692628 | |||||||
| chr2:135693565 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2459+13241G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135693565 | |||||||
| chr2:135693758 | A | G | 1 | a0001c0001t0001g0211 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2459+13434A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135693758 | |||||||
| chr2:135693862 | G | A | 56 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(53): Show |
intron_variant | MODIFIER | c.2459+13538G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135693862 | |||||||
| chr2:135693948 | G | A | 1 | a0003c0003t0001g0048 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.2459+13624G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135693948 | |||||||
| chr2:135693991 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2459+13667C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135693991 | |||||||
| chr2:135694002 | C | CA | 6 | a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 others(3): Show |
6 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(3): Show |
intron_variant | MODIFIER | c.2459+13688dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135694002 | ||||||
| chr2:135694106 | C | T | 56 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2459+13782C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694106 | |||||||
| chr2:135694154 | A | T | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+13830A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694154 | |||||||
| chr2:135694450 | C | T | 4 | a0001c0001t0001g0038 a0001c0001t0001g0107 a0001c0001t0001g0133 others(1): Show |
4 | HG00408.hp2 NA18972.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.2459+14126C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694450 | |||||||
| chr2:135694550 | T | C | 1 | a0003c0003t0001g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2459+14226T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694550 | |||||||
| chr2:135694732 | G | A | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2459+14408G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694732 | |||||||
| chr2:135694752 | T | C | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2459+14428T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694752 | |||||||
| chr2:135694824 | T | C | 1 | a0001c0001t0001g0231 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2459+14500T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694824 | |||||||
| chr2:135694832 | C | A | 136 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(133): Show |
136 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(133): Show |
intron_variant | MODIFIER | c.2459+14508C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135694832 | |||||||
| chr2:135695062 | C | G | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2460-14371C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135695062 | |||||||
| chr2:135695106 | A | T | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2460-14327A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135695106 | |||||||
| chr2:135695158 | A | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2460-14275A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135695158 | |||||||
| chr2:135695403 | C | T | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2460-14030C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135695403 | |||||||
| chr2:135695661 | GC | G | 14 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(11): Show |
14 | HG00639.hp2 HG02258.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.2460-13770delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135695661 | ||||||
| chr2:135695720 | TGAAA | T | 30 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(27): Show |
30 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.2460-13704_2460-13 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135695720 | ||||||
| chr2:135695964 | G | A | 1 | a0002c0002t0001g0176 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2460-13469G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135695964 | |||||||
| chr2:135695970 | A | T | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2460-13463A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135695970 | |||||||
| chr2:135696208 | A | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-13225A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696208 | |||||||
| chr2:135696596 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-12837A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696596 | |||||||
| chr2:135696626 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-12807G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696626 | |||||||
| chr2:135696641 | G | A | 1 | a0001c0001t0001g0210 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2460-12792G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696641 | |||||||
| chr2:135696959 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-12474A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696959 | |||||||
| chr2:135696960 | C | T | 1 | a0001c0001t0002g0119 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.2460-12473C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696960 | |||||||
| chr2:135696984 | T | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-12449T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135696984 | |||||||
| chr2:135697495 | G | C | 1 | a0001c0001t0004g0085 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.2460-11938G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135697495 | |||||||
| chr2:135697518 | T | C | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-11915T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135697518 | |||||||
| chr2:135697581 | C | G | 1 | a0003c0003t0003g0040 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2460-11852C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135697581 | |||||||
| chr2:135697710 | T | C | 1 | a0003c0003t0001g0034 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2460-11723T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135697710 | |||||||
| chr2:135697726 | A | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2460-11707A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135697726 | |||||||
| chr2:135697954 | G | A | 2 | a0001c0001t0001g0131 a0001c0001t0001g0148 |
2 | NA18959.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.2460-11479G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135697954 | |||||||
| chr2:135698030 | G | A | 30 | a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0071 others(27): Show |
30 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.2460-11403G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698030 | |||||||
| chr2:135698052 | C | CA | 56 | a0001c0001t0001g0066 a0001c0001t0001g0136 a0001c0001t0001g0231 others(53): Show |
56 | HG00558.hp1 HG00741.hp1 HG01175.hp2 others(53): Show |
intron_variant | MODIFIER | c.2460-11362dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698052 | ||||||
| chr2:135698052 | C | CAA | 6 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 others(3): Show |
6 | HG01433.hp2 HG02257.hp2 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.2460-11363_2460-11 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698052 | ||||||
| chr2:135698072 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2460-11361G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698072 | |||||||
| chr2:135698520 | T | C | 54 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(51): Show |
54 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.2460-10913T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698520 | |||||||
| chr2:135698711 | A | C | 9 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show |
9 | HG03017.hp1 HG03704.hp1 NA18947.hp2 others(6): Show |
intron_variant | MODIFIER | c.2460-10722A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698711 | |||||||
| chr2:135698717 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2460-10716A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698717 | |||||||
| chr2:135698749 | G | A | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
93 | HG00408.hp2 HG00621.hp1 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.2460-10684G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698749 | |||||||
| chr2:135698883 | T | C | 2 | a0001c0001t0001g0226 a0001c0001t0001g0230 |
2 | HG02965.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2460-10550T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698883 | |||||||
| chr2:135698961 | A | C | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2460-10472A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698961 | |||||||
| chr2:135698978 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-10455C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135698978 | |||||||
| chr2:135698980 | C | CAGAT | 3 | a0001c0001t0001g0045 a0001c0001t0001g0092 a0001c0001t0007g0019 |
3 | HG00639.hp2 HG03704.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.2460-10391_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | C | CAGATAGA others(1): Show |
3 | a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0049 |
3 | HG03017.hp1 NA18971.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.2460-10395_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | C | CAGATAGA others(5): Show |
2 | a0001c0001t0001g0051 a0001c0001t0001g0057 |
2 | NA18952.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.2460-10399_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | CAGAT | C | 33 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0038 others(30): Show |
33 | HG00408.hp2 HG00639.hp1 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.2460-10391_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | CAGATAGA others(1): Show |
C | 22 | a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0078 others(19): Show |
22 | HG00408.hp1 HG01192.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.2460-10395_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | CAGATAGA others(5): Show |
C | 13 | a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0079 others(10): Show |
13 | HG01928.hp2 HG02145.hp2 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.2460-10399_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | CAGATAGA others(13): Show |
C | 1 | a0002c0002t0001g0181 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2460-10407_2460-10 others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135698980 | CAGATAGA others(17): Show |
C | 1 | a0001c0001t0002g0105 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2460-10411_2460-10 others(30): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135698980 | ||||||
| chr2:135699033 | A | AGATT | 2 | a0003c0003t0001g0012 a0012c0011t0001g0229 |
2 | HG02451.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.2460-10397_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699033 | ||||||
| chr2:135699036 | TAGATAGA others(5): Show |
T | 5 | a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0222 others(2): Show |
5 | HG02055.hp1 HG02280.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.2460-10396_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699036 | |||||||
| chr2:135699037 | A | AGATAGAT others(1): Show |
8 | a0003c0003t0001g0021 a0003c0003t0001g0023 a0003c0003t0001g0025 others(5): Show |
8 | HG01346.hp2 HG02056.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-10389_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699037 | ||||||
| chr2:135699037 | A | AGATT | 13 | a0003c0003t0001g0016 a0003c0003t0001g0026 a0003c0003t0001g0033 others(10): Show |
13 | HG01256.hp2 HG01928.hp1 HG01943.hp2 others(10): Show |
intron_variant | MODIFIER | c.2460-10393_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699037 | ||||||
| chr2:135699037 | A | AGATTGAT others(1): Show |
2 | a0003c0003t0001g0199 a0009c0009t0001g0228 |
2 | HG02132.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2460-10393_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699037 | ||||||
| chr2:135699037 | A | T | 33 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(30): Show |
33 | HG00741.hp1 HG01192.hp1 HG01433.hp1 others(30): Show |
intron_variant | MODIFIER | c.2460-10396A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699037 | |||||||
| chr2:135699040 | TAGATAAG others(1): Show |
T | 3 | a0001c0001t0001g0212 a0001c0001t0001g0226 a0011c0012t0001g0219 |
3 | HG02809.hp2 HG02895.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2460-10392_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699040 | |||||||
| chr2:135699041 | A | T | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-10392A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699041 | |||||||
| chr2:135699044 | TAAGA | T | 3 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 |
3 | HG03225.hp1 HG03540.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2460-10388_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699044 | |||||||
| chr2:135699045 | A | AGAT | 2 | a0001c0001t0001g0223 a0001c0001t0001g0224 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.2460-10388_2460-10 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATAGAT others(5): Show |
6 | a0001c0001t0001g0071 a0001c0001t0001g0184 a0001c0001t0008g0205 others(3): Show |
6 | HG01243.hp2 HG02559.hp2 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.2460-10388_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATAGAT others(1): Show |
12 | a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0183 others(9): Show |
12 | HG00621.hp2 HG00735.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.2460-10388_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATAGAT others(9): Show |
1 | a0003c0003t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2460-10388_2460-10 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATAGAT others(5): Show |
1 | a0006c0005t0001g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2460-10388_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATT | 33 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(30): Show |
33 | HG00621.hp1 HG01175.hp2 HG01261.hp2 others(30): Show |
intron_variant | MODIFIER | c.2460-10388_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATTGAT others(5): Show |
1 | a0003c0003t0001g0029 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.2460-10388_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | AGATTGAT others(9): Show |
1 | a0009c0009t0001g0227 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2460-10388_2460-10 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699045 | A | T | 143 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(140): Show |
intron_variant | MODIFIER | c.2460-10388A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699045 | |||||||
| chr2:135699046 | A | G | 3 | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0230 |
3 | HG02647.hp1 HG02965.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2460-10387A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699046 | |||||||
| chr2:135699047 | G | A | 3 | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0230 |
3 | HG02647.hp1 HG02965.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2460-10386G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699047 | |||||||
| chr2:135699048 | A | AT | 2 | a0001c0001t0001g0223 a0001c0001t0001g0224 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.2460-10384dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699048 | ||||||
| chr2:135699048 | A | T | 3 | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0230 |
3 | HG02647.hp1 HG02965.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2460-10385A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699048 | |||||||
| chr2:135699066 | T | TTAGATTA others(6): Show |
1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2460-10362_2460-10 others(19): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699066 | ||||||
| chr2:135699072 | A | G | 37 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show |
37 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.2460-10361A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699072 | |||||||
| chr2:135699075 | T | TAGA | 2 | a0001c0001t0001g0066 a0002c0002t0001g0168 |
2 | HG03579.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2460-10358_2460-10 others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699075 | |||||||
| chr2:135699075 | T | TAGATAGA others(8): Show |
1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2460-10358_2460-10 others(21): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699075 | |||||||
| chr2:135699075 | T | TTAGA | 17 | a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0109 others(14): Show |
17 | HG00741.hp2 HG01071.hp2 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.2460-10332_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699075 | T | TTAGATAG others(1): Show |
26 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 others(23): Show |
26 | HG00735.hp2 HG00741.hp1 HG01069.hp1 others(23): Show |
intron_variant | MODIFIER | c.2460-10336_2460-10 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699075 | T | TTAGATAG others(5): Show |
47 | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0078 others(44): Show |
47 | HG00558.hp2 HG00621.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.2460-10340_2460-10 others(18): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699075 | T | TTAGATAG others(9): Show |
48 | a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0206 others(45): Show |
48 | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.2460-10344_2460-10 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699075 | T | TTAGATAG others(13): Show |
28 | a0001c0001t0001g0017 a0001c0001t0001g0213 a0001c0001t0001g0230 others(25): Show |
28 | HG00621.hp1 HG01978.hp1 HG01993.hp2 others(25): Show |
intron_variant | MODIFIER | c.2460-10348_2460-10 others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699075 | T | TTAGATAG others(17): Show |
10 | a0001c0001t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0100 others(7): Show |
10 | HG03486.hp1 HG03491.hp1 HG03669.hp1 others(7): Show |
intron_variant | MODIFIER | c.2460-10352_2460-10 others(30): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699075 | TTAGA | T | 9 | a0001c0001t0001g0092 a0001c0001t0002g0102 a0001c0001t0002g0103 others(6): Show |
9 | HG00408.hp1 HG00558.hp1 HG00639.hp2 others(6): Show |
intron_variant | MODIFIER | c.2460-10332_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699075 | ||||||
| chr2:135699101 | AGATT | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-10331_2460-10 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699101 | |||||||
| chr2:135699105 | T | A | 50 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(47): Show |
50 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.2460-10328T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699105 | |||||||
| chr2:135699188 | AC | A | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460-10244delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699188 | |||||||
| chr2:135699455 | G | A | 25 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.2460-9978G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699455 | |||||||
| chr2:135699523 | T | TACAGATA others(11): Show |
8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-9908_2460-989 others(22): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135699523 | ||||||
| chr2:135699969 | G | A | 3 | a0001c0001t0001g0095 a0001c0001t0001g0209 a0010c0010t0001g0094 |
3 | HG02559.hp1 HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2460-9464G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135699969 | |||||||
| chr2:135700020 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-9413A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135700020 | |||||||
| chr2:135700172 | C | CA | 19 | a0001c0001t0001g0125 a0001c0001t0001g0212 a0001c0001t0001g0213 others(16): Show |
19 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.2460-9250dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135700172 | ||||||
| chr2:135700578 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-8855T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135700578 | |||||||
| chr2:135700983 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 |
3 | HG02258.hp2 HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2460-8450G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135700983 | |||||||
| chr2:135701020 | A | G | 3 | a0008c0008t0001g0142 a0008c0008t0001g0163 a0008c0008t0001g0169 |
3 | NA18747.hp2 NA18999.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.2460-8413A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701020 | |||||||
| chr2:135701223 | C | CA | 6 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show |
6 | HG02258.hp2 HG03516.hp2 HG04184.hp1 others(3): Show |
intron_variant | MODIFIER | c.2460-8189dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135701223 | ||||||
| chr2:135701223 | CA | C | 117 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(114): Show |
117 | HG00408.hp1 HG00558.hp1 HG00621.hp2 others(114): Show |
intron_variant | MODIFIER | c.2460-8189delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135701223 | ||||||
| chr2:135701238 | A | C | 3 | a0001c0001t0001g0095 a0001c0001t0001g0209 a0010c0010t0001g0094 |
3 | HG02559.hp1 HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2460-8195A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701238 | |||||||
| chr2:135701286 | C | G | 33 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2460-8147C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701286 | |||||||
| chr2:135701501 | T | C | 1 | a0002c0002t0001g0100 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2460-7932T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701501 | |||||||
| chr2:135701657 | A | G | 56 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2460-7776A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701657 | |||||||
| chr2:135701743 | T | A | 1 | a0002c0002t0001g0009 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.2460-7690T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701743 | |||||||
| chr2:135701760 | A | T | 1 | a0001c0001t0001g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2460-7673A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701760 | |||||||
| chr2:135701790 | T | C | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2460-7643T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701790 | |||||||
| chr2:135701846 | C | G | 1 | a0001c0001t0001g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2460-7587C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701846 | |||||||
| chr2:135701912 | T | C | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2460-7521T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701912 | |||||||
| chr2:135701964 | CAT | C | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460-7468_2460-746 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701964 | |||||||
| chr2:135701995 | C | A | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2460-7438C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135701995 | |||||||
| chr2:135702212 | A | AG | 38 | a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 others(35): Show |
38 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(35): Show |
intron_variant | MODIFIER | c.2460-7216dupG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702212 | ||||||
| chr2:135702217 | G | GA | 8 | a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0002g0102 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-7193dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | G | GAA | 58 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0066 others(55): Show |
58 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.2460-7194_2460-719 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | G | GAAA | 48 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0074 others(45): Show |
48 | HG00621.hp1 HG00735.hp1 HG01175.hp1 others(45): Show |
intron_variant | MODIFIER | c.2460-7195_2460-719 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | G | GAAAA | 7 | a0001c0001t0001g0052 a0001c0001t0001g0213 a0001c0001t0001g0216 others(4): Show |
7 | HG02055.hp1 HG02622.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2460-7196_2460-719 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | G | GAAAAAAA others(3): Show |
4 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(1): Show |
4 | HG03195.hp1 HG03225.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-7202_2460-719 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | G | GGA | 7 | a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 others(4): Show |
7 | HG01346.hp2 HG01978.hp1 HG02056.hp2 others(4): Show |
intron_variant | MODIFIER | c.2460-7216_2460-721 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702217 | |||||||
| chr2:135702217 | GA | G | 5 | a0001c0001t0001g0017 a0001c0001t0001g0089 a0001c0001t0001g0090 others(2): Show |
5 | HG02258.hp2 HG03516.hp2 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.2460-7193delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | GAAAAAAA others(3): Show |
G | 1 | a0001c0001t0001g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2460-7202_2460-719 others(14): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702217 | GAAAAAAA others(4): Show |
G | 29 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0107 others(26): Show |
29 | HG00741.hp2 HG01069.hp1 HG01071.hp2 others(26): Show |
intron_variant | MODIFIER | c.2460-7203_2460-719 others(15): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702217 | ||||||
| chr2:135702218 | A | G | 21 | a0003c0003t0001g0015 a0003c0003t0001g0031 a0003c0003t0001g0033 others(18): Show |
21 | HG00741.hp1 HG01256.hp2 HG01433.hp2 others(18): Show |
intron_variant | MODIFIER | c.2460-7215A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702218 | |||||||
| chr2:135702219 | A | G | 2 | a0001c0001t0001g0017 a0003c0003t0001g0016 |
2 | NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2460-7214A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702219 | |||||||
| chr2:135702298 | AG | A | 59 | a0001c0001t0001g0017 a0003c0003t0001g0011 a0003c0003t0001g0012 others(56): Show |
59 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(56): Show |
intron_variant | MODIFIER | c.2460-7134delG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702298 | |||||||
| chr2:135702369 | A | G | 1 | a0001c0001t0001g0210 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2460-7064A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702369 | |||||||
| chr2:135702436 | G | A | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2460-6997G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702436 | |||||||
| chr2:135702644 | C | T | 1 | a0003c0003t0001g0199 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2460-6789C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702644 | |||||||
| chr2:135702649 | C | CA | 10 | a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0007g0019 others(7): Show |
10 | HG01175.hp2 HG01978.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.2460-6764dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702649 | ||||||
| chr2:135702649 | CA | C | 19 | a0001c0001t0001g0095 a0001c0001t0001g0212 a0001c0001t0001g0213 others(16): Show |
19 | HG01975.hp2 HG02055.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.2460-6764delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135702649 | ||||||
| chr2:135702694 | G | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-6739G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702694 | |||||||
| chr2:135702754 | T | G | 67 | a0001c0001t0001g0017 a0001c0001t0002g0102 a0001c0001t0002g0103 others(64): Show |
67 | HG00408.hp1 HG00558.hp1 HG00741.hp1 others(64): Show |
intron_variant | MODIFIER | c.2460-6679T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702754 | |||||||
| chr2:135702760 | C | T | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-6673C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702760 | |||||||
| chr2:135702894 | A | G | 1 | a0001c0001t0001g0231 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2460-6539A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702894 | |||||||
| chr2:135702895 | C | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-6538C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135702895 | |||||||
| chr2:135703033 | C | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-6400C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703033 | |||||||
| chr2:135703040 | C | G | 1 | a0002c0002t0001g0171 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2460-6393C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703040 | |||||||
| chr2:135703124 | G | A | 2 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | HG02559.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2460-6309G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703124 | |||||||
| chr2:135703407 | T | G | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2460-6026T>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703407 | |||||||
| chr2:135703635 | A | G | 1 | a0001c0001t0002g0105 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2460-5798A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703635 | |||||||
| chr2:135703751 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-5682A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703751 | |||||||
| chr2:135703843 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-5590C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703843 | |||||||
| chr2:135703959 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2460-5474G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135703959 | |||||||
| chr2:135704050 | A | G | 4 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460-5383A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704050 | |||||||
| chr2:135704421 | T | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2460-5012T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704421 | |||||||
| chr2:135704477 | CT | C | 158 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(155): Show |
158 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(155): Show |
intron_variant | MODIFIER | c.2460-4941delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135704477 | ||||||
| chr2:135704539 | C | T | 4 | a0002c0002t0001g0130 a0002c0002t0001g0145 a0002c0002t0001g0146 others(1): Show |
4 | NA18952.hp1 NA18962.hp2 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460-4894C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704539 | |||||||
| chr2:135704661 | G | C | 1 | a0001c0001t0001g0008 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2460-4772G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704661 | |||||||
| chr2:135704816 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-4617T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704816 | |||||||
| chr2:135704871 | C | T | 30 | a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0071 others(27): Show |
30 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.2460-4562C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704871 | |||||||
| chr2:135704872 | T | C | 2 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2460-4561T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135704872 | |||||||
| chr2:135705091 | C | T | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
93 | HG00408.hp2 HG00621.hp1 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.2460-4342C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705091 | |||||||
| chr2:135705156 | A | C | 3 | a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0026 |
3 | HG03688.hp2 HG03942.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.2460-4277A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705156 | |||||||
| chr2:135705179 | C | T | 5 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 others(2): Show |
5 | HG02109.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.2460-4254C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705179 | |||||||
| chr2:135705208 | T | TC | 10 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | HG00639.hp2 HG03017.hp1 HG03704.hp1 others(7): Show |
intron_variant | MODIFIER | c.2460-4224dupC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135705208 | ||||||
| chr2:135705261 | G | T | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2460-4172G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705261 | |||||||
| chr2:135705363 | A | G | 1 | a0006c0005t0001g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2460-4070A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705363 | |||||||
| chr2:135705547 | G | A | 55 | a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0056 others(52): Show |
55 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(52): Show |
intron_variant | MODIFIER | c.2460-3886G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705547 | |||||||
| chr2:135705613 | G | C | 5 | a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 others(2): Show |
5 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.2460-3820G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705613 | |||||||
| chr2:135705884 | C | T | 56 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0028 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2460-3549C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705884 | |||||||
| chr2:135705989 | C | T | 1 | a0001c0001t0002g0103 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2460-3444C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135705989 | |||||||
| chr2:135706159 | C | T | 1 | a0001c0001t0001g0082 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2460-3274C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706159 | |||||||
| chr2:135706280 | T | C | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460-3153T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706280 | |||||||
| chr2:135706333 | G | T | 6 | a0003c0003t0003g0030 a0003c0003t0003g0039 a0003c0003t0003g0040 others(3): Show |
6 | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.2460-3100G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706333 | |||||||
| chr2:135706334 | A | AT | 55 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(52): Show |
55 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.2460-3088dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135706334 | ||||||
| chr2:135706362 | GTTTTGT | G | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2460-3042_2460-303 others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135706362 | ||||||
| chr2:135706362 | GTTTTGTT others(5): Show |
G | 7 | a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0108 others(4): Show |
7 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.2460-3048_2460-303 others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135706362 | ||||||
| chr2:135706366 | TG | T | 2 | a0002c0002t0001g0062 a0002c0002t0001g0063 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2460-3066delG | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706366 | |||||||
| chr2:135706367 | G | T | 217 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(214): Show |
217 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(214): Show |
intron_variant | MODIFIER | c.2460-3066G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706367 | |||||||
| chr2:135706373 | G | T | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2460-3060G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706373 | |||||||
| chr2:135706379 | G | T | 7 | a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0108 others(4): Show |
7 | HG00735.hp1 HG02055.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.2460-3054G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706379 | |||||||
| chr2:135706385 | G | T | 11 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(8): Show |
11 | HG01175.hp1 HG01884.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.2460-3048G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706385 | |||||||
| chr2:135706698 | G | T | 25 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.2460-2735G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706698 | |||||||
| chr2:135706906 | C | G | 1 | a0005c0006t0001g0010 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2460-2527C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706906 | |||||||
| chr2:135706979 | C | T | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2460-2454C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135706979 | |||||||
| chr2:135706996 | CGGGCGGG others(42): Show |
C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-2423_2460-237 others(53): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135706996 | ||||||
| chr2:135707032 | C | T | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460-2401C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707032 | |||||||
| chr2:135707045 | T | C | 214 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(211): Show |
214 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(211): Show |
intron_variant | MODIFIER | c.2460-2388T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707045 | |||||||
| chr2:135707248 | T | C | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2460-2185T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707248 | |||||||
| chr2:135707315 | G | A | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2460-2118G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707315 | |||||||
| chr2:135707395 | C | T | 161 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(158): Show |
161 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(158): Show |
intron_variant | MODIFIER | c.2460-2038C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707395 | |||||||
| chr2:135707661 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2460-1772G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707661 | |||||||
| chr2:135707692 | C | T | 1 | a0003c0003t0003g0040 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2460-1741C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135707692 | |||||||
| chr2:135708286 | T | C | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2460-1147T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135708286 | |||||||
| chr2:135708292 | G | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0007 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2460-1141G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135708292 | |||||||
| chr2:135708359 | G | A | 2 | a0008c0008t0001g0142 a0008c0008t0001g0169 |
2 | NA18999.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.2460-1074G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135708359 | |||||||
| chr2:135708416 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2460-1017T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135708416 | |||||||
| chr2:135708825 | G | A | 1 | a0002c0002t0001g0101 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2460-608G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135708825 | |||||||
| chr2:135708867 | G | A | 25 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.2460-566G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135708867 | |||||||
| chr2:135708958 | C | CA | 9 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0093 others(6): Show |
9 | HG01261.hp1 HG01981.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.2460-455dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135708958 | ||||||
| chr2:135708958 | C | CAA | 31 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0038 others(28): Show |
31 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.2460-456_2460-455d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135708958 | ||||||
| chr2:135708958 | C | CAAA | 5 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
5 | HG02895.hp2 HG03195.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.2460-457_2460-455d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135708958 | ||||||
| chr2:135708958 | CA | C | 55 | a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0066 others(52): Show |
55 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(52): Show |
intron_variant | MODIFIER | c.2460-455delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | 135708958 | ||||||
| chr2:135709162 | C | T | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460-271C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135709162 | |||||||
| chr2:135709204 | G | C | 1 | a0001c0001t0001g0124 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.2460-229G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135709204 | |||||||
| chr2:135709261 | C | G | 54 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(51): Show |
54 | HG00558.hp2 HG00621.hp2 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.2460-172C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135709261 | |||||||
| chr2:135709316 | G | A | 1 | a0002c0002t0001g0135 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2460-117G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135709316 | |||||||
| chr2:135709364 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2460-69G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | 135709364 | |||||||
| chr2:135709549 | C | T | 56 | a0001c0001t0001g0052 a0002c0002t0001g0009 a0002c0002t0001g0028 others(53): Show |
56 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.2563+13C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 22/26 | chr2 | 135709549 | |||||||
| chr2:135709594 | C | A | 215 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(212): Show |
215 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(212): Show |
intron_variant | MODIFIER | c.2563+58C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 22/26 | chr2 | 135709594 | |||||||
| chr2:135709918 | C | G | 1 | a0001c0001t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2564-141C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 22/26 | chr2 | 135709918 | |||||||
| chr2:135709947 | A | G | 1 | a0001c0001t0001g0224 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2564-112A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 22/26 | chr2 | 135709947 | |||||||
| chr2:135709989 | C | A | 35 | a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0068 others(32): Show |
35 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.2564-70C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 22/26 | chr2 | 135709989 | |||||||
| chr2:135710265 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2736+34G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710265 | |||||||
| chr2:135710346 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2736+115C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710346 | |||||||
| chr2:135710350 | C | T | 9 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show |
9 | HG03017.hp1 HG03704.hp1 NA18947.hp2 others(6): Show |
intron_variant | MODIFIER | c.2736+119C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710350 | |||||||
| chr2:135710492 | A | G | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2736+261A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710492 | |||||||
| chr2:135710663 | C | T | 1 | a0002c0002t0001g0161 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2736+432C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710663 | |||||||
| chr2:135710668 | G | A | 50 | a0002c0002t0001g0009 a0002c0002t0001g0056 a0002c0002t0001g0058 others(47): Show |
50 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(47): Show |
intron_variant | MODIFIER | c.2736+437G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710668 | |||||||
| chr2:135710737 | A | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0092 |
2 | HG00639.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2736+506A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710737 | |||||||
| chr2:135710967 | T | A | 216 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(213): Show |
216 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(213): Show |
intron_variant | MODIFIER | c.2736+736T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135710967 | |||||||
| chr2:135711033 | A | G | 1 | a0002c0002t0001g0168 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2736+802A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135711033 | |||||||
| chr2:135711443 | C | G | 1 | a0004c0004t0001g0116 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2736+1212C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135711443 | |||||||
| chr2:135711662 | G | GA | 8 | a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0002g0102 others(5): Show |
8 | HG03579.hp2 NA18967.hp1 NA18968.hp1 others(5): Show |
intron_variant | MODIFIER | c.2736+1446dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135711662 | ||||||
| chr2:135711662 | GA | G | 143 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(140): Show |
143 | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(140): Show |
intron_variant | MODIFIER | c.2736+1446delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135711662 | ||||||
| chr2:135711677 | AC | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2736+1449delC | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135711677 | ||||||
| chr2:135711820 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2736+1589G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135711820 | |||||||
| chr2:135711827 | C | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2736+1596C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135711827 | |||||||
| chr2:135711890 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2736+1659C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135711890 | |||||||
| chr2:135711950 | C | T | 2 | a0003c0003t0001g0029 a0003c0003t0001g0033 |
2 | NA18967.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.2736+1719C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135711950 | |||||||
| chr2:135711963 | TA | T | 150 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(147): Show |
150 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(147): Show |
intron_variant | MODIFIER | c.2736+1757delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135711963 | ||||||
| chr2:135711963 | TAA | T | 40 | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0073 others(37): Show |
40 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(37): Show |
intron_variant | MODIFIER | c.2736+1756_2736+175 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135711963 | ||||||
| chr2:135712065 | C | A | 1 | a0001c0001t0001g0217 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2736+1834C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712065 | |||||||
| chr2:135712214 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2736+1983C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712214 | |||||||
| chr2:135712428 | A | AT | 54 | a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0067 others(51): Show |
54 | HG00558.hp2 HG00621.hp1 HG00621.hp2 others(51): Show |
intron_variant | MODIFIER | c.2736+2221dupT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135712428 | ||||||
| chr2:135712428 | A | ATT | 8 | a0001c0001t0001g0078 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG01243.hp2 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.2736+2220_2736+222 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135712428 | ||||||
| chr2:135712428 | AT | A | 36 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(33): Show |
36 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(33): Show |
intron_variant | MODIFIER | c.2736+2221delT | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135712428 | ||||||
| chr2:135712428 | ATT | A | 9 | a0001c0001t0001g0133 a0001c0001t0002g0102 a0001c0001t0002g0103 others(6): Show |
9 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.2736+2220_2736+222 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135712428 | ||||||
| chr2:135712452 | T | A | 1 | a0001c0001t0001g0156 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2736+2221T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712452 | |||||||
| chr2:135712454 | T | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2736+2223T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712454 | |||||||
| chr2:135712634 | A | G | 9 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show |
9 | HG03017.hp1 HG03704.hp1 NA18947.hp2 others(6): Show |
intron_variant | MODIFIER | c.2736+2403A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712634 | |||||||
| chr2:135712649 | C | T | 51 | a0001c0001t0001g0136 a0002c0002t0001g0009 a0002c0002t0001g0056 others(48): Show |
51 | HG00621.hp1 HG00735.hp1 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.2736+2418C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712649 | |||||||
| chr2:135712703 | C | T | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2736+2472C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712703 | |||||||
| chr2:135712837 | C | T | 7 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.2736+2606C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712837 | |||||||
| chr2:135712881 | A | T | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2736+2650A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135712881 | |||||||
| chr2:135713144 | G | A | 37 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show |
37 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.2737-2406G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713144 | |||||||
| chr2:135713330 | T | C | 1 | a0001c0001t0001g0133 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.2737-2220T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713330 | |||||||
| chr2:135713387 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2737-2163T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713387 | |||||||
| chr2:135713408 | A | C | 53 | a0001c0001t0001g0210 a0003c0003t0001g0011 a0003c0003t0001g0012 others(50): Show |
53 | HG00741.hp1 HG01256.hp2 HG01346.hp2 others(50): Show |
intron_variant | MODIFIER | c.2737-2142A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713408 | |||||||
| chr2:135713547 | T | C | 1 | a0003c0003t0001g0021 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2737-2003T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713547 | |||||||
| chr2:135713695 | A | G | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2737-1855A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713695 | |||||||
| chr2:135713712 | C | T | 1 | a0005c0006t0003g0043 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2737-1838C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135713712 | |||||||
| chr2:135714251 | G | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2737-1299G>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135714251 | |||||||
| chr2:135714537 | A | G | 53 | a0001c0001t0001g0210 a0003c0003t0001g0011 a0003c0003t0001g0012 others(50): Show |
53 | HG00741.hp1 HG01256.hp2 HG01346.hp2 others(50): Show |
intron_variant | MODIFIER | c.2737-1013A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135714537 | |||||||
| chr2:135714764 | T | TAC | 103 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(100): Show |
103 | HG00408.hp2 HG00621.hp1 HG00741.hp2 others(100): Show |
intron_variant | MODIFIER | c.2737-760_2737-759d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135714764 | ||||||
| chr2:135714764 | T | TACAC | 3 | a0001c0001t0001g0052 a0002c0002t0001g0168 a0002c0002t0001g0181 |
3 | HG02080.hp1 NA19030.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2737-762_2737-759d others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135714764 | ||||||
| chr2:135714764 | T | TACACAC | 2 | a0001c0001t0001g0092 a0002c0002t0001g0145 |
2 | HG00639.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.2737-764_2737-759d others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135714764 | ||||||
| chr2:135714787 | A | G | 65 | a0001c0001t0001g0066 a0001c0001t0001g0210 a0001c0001t0002g0102 others(62): Show |
65 | HG00408.hp1 HG00558.hp1 HG00741.hp1 others(62): Show |
intron_variant | MODIFIER | c.2737-763A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135714787 | |||||||
| chr2:135714790 | C | CAG | 2 | a0001c0001t0001g0125 a0005c0006t0001g0010 |
2 | HG01192.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.2737-756_2737-755d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr2 | 135714790 | ||||||
| chr2:135715035 | T | C | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2737-515T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135715035 | |||||||
| chr2:135715289 | G | A | 3 | a0001c0001t0001g0017 a0003c0003t0001g0015 a0003c0003t0001g0016 |
3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2737-261G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 23/26 | chr2 | 135715289 | |||||||
| chr2:135715870 | C | T | 1 | a0001c0001t0001g0052 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2881+176C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135715870 | |||||||
| chr2:135716048 | C | T | 11 | a0001c0001t0001g0017 a0001c0001t0001g0206 a0001c0001t0001g0207 others(8): Show |
11 | HG01243.hp2 HG01993.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2881+354C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716048 | |||||||
| chr2:135716065 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2881+371G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716065 | |||||||
| chr2:135716093 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2881+399A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716093 | |||||||
| chr2:135716094 | A | G | 2 | a0001c0001t0001g0052 a0001c0001t0001g0092 |
2 | HG00639.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2881+400A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716094 | |||||||
| chr2:135716182 | C | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0184 |
2 | NA18999.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.2881+488C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716182 | |||||||
| chr2:135716377 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2881+683G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716377 | |||||||
| chr2:135716509 | A | T | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2881+815A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716509 | |||||||
| chr2:135716528 | A | T | 37 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show |
37 | HG00408.hp2 HG00741.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.2881+834A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716528 | |||||||
| chr2:135716664 | A | G | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2881+970A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716664 | |||||||
| chr2:135716719 | C | A | 6 | a0002c0002t0001g0101 a0002c0002t0001g0154 a0002c0002t0001g0175 others(3): Show |
6 | HG01175.hp2 HG01192.hp2 HG03942.hp2 others(3): Show |
intron_variant | MODIFIER | c.2881+1025C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135716719 | |||||||
| chr2:135716971 | A | AAAAC | 229 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(226): Show |
229 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(226): Show |
intron_variant | MODIFIER | c.2881+1287_2881+129 others(8): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr2 | 135716971 | ||||||
| chr2:135717003 | A | G | 7 | a0001c0001t0001g0052 a0001c0001t0001g0092 a0002c0002t0001g0028 others(4): Show |
7 | HG00639.hp2 HG01993.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.2881+1309A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135717003 | |||||||
| chr2:135717102 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2881+1408T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135717102 | |||||||
| chr2:135717166 | G | A | 8 | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.2881+1472G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135717166 | |||||||
| chr2:135717295 | C | T | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2881+1601C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135717295 | |||||||
| chr2:135717493 | AAAG | A | 6 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.2881+1805_2881+180 others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr2 | 135717493 | ||||||
| chr2:135717715 | A | T | 1 | a0002c0002t0001g0186 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2881+2021A>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135717715 | |||||||
| chr2:135717882 | G | A | 1 | a0001c0001t0001g0209 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2881+2188G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135717882 | |||||||
| chr2:135718142 | A | C | 2 | a0001c0001t0001g0052 a0001c0001t0001g0092 |
2 | HG00639.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2881+2448A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135718142 | |||||||
| chr2:135718269 | C | T | 4 | a0002c0002t0001g0028 a0002c0002t0001g0188 a0002c0002t0001g0189 others(1): Show |
4 | HG01993.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2881+2575C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135718269 | |||||||
| chr2:135718507 | CTG | C | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2881+2815_2881+281 others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr2 | 135718507 | ||||||
| chr2:135719052 | G | A | 5 | a0002c0002t0001g0028 a0002c0002t0001g0187 a0002c0002t0001g0188 others(2): Show |
5 | HG01993.hp1 HG02451.hp1 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.2882-2872G>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719052 | |||||||
| chr2:135719210 | T | C | 1 | a0002c0002t0001g0153 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.2882-2714T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719210 | |||||||
| chr2:135719337 | A | C | 1 | a0003c0003t0001g0014 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.2882-2587A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719337 | |||||||
| chr2:135719530 | T | C | 56 | a0001c0001t0001g0210 a0003c0003t0001g0011 a0003c0003t0001g0012 others(53): Show |
56 | HG00741.hp1 HG01256.hp2 HG01346.hp2 others(53): Show |
intron_variant | MODIFIER | c.2882-2394T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719530 | |||||||
| chr2:135719630 | C | T | 3 | a0009c0009t0001g0227 a0009c0009t0001g0228 a0012c0011t0001g0229 |
3 | HG02896.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2882-2294C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719630 | |||||||
| chr2:135719650 | T | C | 1 | a0001c0001t0001g0074 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2882-2274T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719650 | |||||||
| chr2:135719851 | T | C | 1 | a0001c0001t0001g0214 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2882-2073T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135719851 | |||||||
| chr2:135720135 | G | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | HG01261.hp1 HG02809.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2882-1789G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135720135 | |||||||
| chr2:135720767 | A | C | 1 | a0002c0002t0001g0161 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2882-1157A>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135720767 | |||||||
| chr2:135721552 | C | T | 5 | a0002c0002t0001g0028 a0002c0002t0001g0187 a0002c0002t0001g0188 others(2): Show |
5 | HG01993.hp1 HG02451.hp1 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.2882-372C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135721552 | |||||||
| chr2:135721710 | C | G | 1 | a0001c0001t0001g0184 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.2882-214C>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135721710 | |||||||
| chr2:135721732 | C | T | 45 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(42): Show |
45 | HG00408.hp2 HG00639.hp2 HG00741.hp2 others(42): Show |
intron_variant | MODIFIER | c.2882-192C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 24/26 | chr2 | 135721732 | |||||||
| chr2:135722128 | G | T | 5 | a0002c0002t0001g0130 a0002c0002t0001g0145 a0002c0002t0001g0146 others(2): Show |
5 | NA18952.hp1 NA18962.hp2 NA19070.hp1 others(2): Show |
intron_variant | MODIFIER | c.2964+122G>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 25/26 | chr2 | 135722128 | |||||||
| chr2:135722170 | C | A | 17 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(14): Show |
17 | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2964+164C>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 25/26 | chr2 | 135722170 | |||||||
| chr2:135722319 | A | G | 1 | a0001c0001t0002g0105 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2965-150A>G | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 25/26 | chr2 | 135722319 | |||||||
| chr2:135722900 | T | C | 1 | a0001c0001t0001g0133 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.3049+347T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135722900 | |||||||
| chr2:135723117 | T | A | 7 | a0001c0001t0001g0052 a0002c0002t0001g0187 a0003c0003t0001g0191 others(4): Show |
7 | HG00741.hp1 HG01256.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.3049+564T>A | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723117 | |||||||
| chr2:135723266 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0007g0019 |
2 | HG03017.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.3050-671C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723266 | |||||||
| chr2:135723507 | C | T | 1 | a0002c0002t0001g0167 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.3050-430C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723507 | |||||||
| chr2:135723645 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3050-292C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723645 | |||||||
| chr2:135723649 | C | T | 2 | a0001c0001t0001g0125 a0005c0006t0001g0010 |
2 | HG01192.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.3050-288C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723649 | |||||||
| chr2:135723691 | C | T | 1 | a0006c0005t0001g0072 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3050-246C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723691 | |||||||
| chr2:135723768 | C | T | 3 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.3050-169C>T | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723768 | |||||||
| chr2:135723778 | C | CA | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0070 others(11): Show |
14 | HG01261.hp1 HG01981.hp1 HG01993.hp1 others(11): Show |
intron_variant | MODIFIER | c.3050-132dupA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723778 | C | CAAA | 8 | a0001c0001t0001g0052 a0001c0001t0002g0102 a0001c0001t0002g0103 others(5): Show |
8 | HG00408.hp1 HG00558.hp1 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.3050-134_3050-132d others(5): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723778 | C | CAAAAA | 12 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(9): Show |
12 | HG02055.hp1 HG02647.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.3050-136_3050-132d others(7): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723778 | CA | C | 65 | a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0068 others(62): Show |
65 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.3050-132delA | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723778 | CAAAAAAA | C | 8 | a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0035 others(5): Show |
8 | HG01981.hp2 HG02451.hp2 HG03688.hp2 others(5): Show |
intron_variant | MODIFIER | c.3050-138_3050-132d others(9): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723778 | CAAAAAAA others(1): Show |
C | 47 | a0001c0001t0001g0125 a0001c0001t0001g0210 a0003c0003t0001g0011 others(44): Show |
47 | HG00741.hp1 HG01192.hp1 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.3050-139_3050-132d others(10): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723778 | CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0066 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3050-145_3050-132d others(16): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723778 | ||||||
| chr2:135723819 | GTT | G | 5 | a0002c0002t0001g0028 a0002c0002t0001g0187 a0002c0002t0001g0188 others(2): Show |
5 | HG01993.hp1 HG02451.hp1 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.3050-115_3050-114d others(4): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | 135723819 | ||||||
| chr2:135723835 | T | C | 3 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 |
3 | HG01433.hp1 HG03491.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.3050-102T>C | R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | chr2 | 135723835 |