Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 51606 |
| ensemblid | ENSG00000047249.18 |
| hgncid | 18303 |
| symbol | ATP6V1H |
| name | ATPase H+ transporting V1 subunit H |
| refseq_nuc | NM_015941.4 |
| refseq_prot | NP_057025.2 |
| ensembl_nuc | ENST00000359530.7 |
| ensembl_prot | ENSP00000352522.2 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 53715543 |
| end | 53843245 |
| strand | - |
| ver | v1.2 |
| region | chr8:53715543-53843245 |
| region5000 | chr8:53710543-53848245 |
| regionname0 | ATP6V1H_chr8_53715543_53843245 |
| regionname5000 | ATP6V1H_chr8_53710543_53848245 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 483 | 284 | 78 | 44 | 130 | 8 | 22 | 98 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | MTKMD others(478): Show |
chr8 | 53710543 | 53848245 |
| a0002 | 0/0 | 483 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | MTKMD others(478): Show |
chr8 | 53710543 | 53848245 |
| a0003 | 0/0 | 483 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | MTKMD others(478): Show |
chr8 | 53710543 | 53848245 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1449 | 281 | 76 | 44 | 129 | 8 | 22 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | ATGAC others(1444): Show |
chr8 | 53710543 | 53848245 | ||
| a0001c0002 | 0/0 | 1449 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | ATGAC others(1444): Show |
chr8 | 53710543 | 53848245 | ||
| a0001c0003 | 0/0 | 1449 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | ATGAC others(1444): Show |
chr8 | 53710543 | 53848245 | ||
| a0001c0006 | 0/0 | 1449 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | ATGAC others(1444): Show |
chr8 | 53710543 | 53848245 | ||
| a0002c0005 | 0/0 | 1449 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | ATGAC others(1444): Show |
chr8 | 53710543 | 53848245 | ||
| a0003c0004 | 0/0 | 1449 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | ATGAC others(1444): Show |
chr8 | 53710543 | 53848245 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 2120 | 172 | 51 | 32 | 65 | 8 | 14 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0001t0002 | 0/0 | 2120 | 100 | 21 | 9 | 63 | 0 | 7 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0001t0003 | 0/0 | 2120 | 4 | 1 | 3 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0001t0004 | 0/0 | 2130 | 2 | 2 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2125): Show |
chr8 | 53710543 | 53848245 |
| a0001c0001t0005 | 0/0 | 2120 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0001t0006 | 0/0 | 2120 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0001t0007 | 0/0 | 2120 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0002t0001 | 0/0 | 2120 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0003t0001 | 0/0 | 2120 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0001c0006t0001 | 0/0 | 2120 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0002c0005t0001 | 0/0 | 2120 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| a0003c0004t0002 | 0/0 | 2120 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | CTTCT others(2115): Show |
chr8 | 53710543 | 53848245 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0071 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0084 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0001g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0002g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0003g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0003g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0003g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0003g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0004g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0004g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0005g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0006g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0001t0007g0284 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0002t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0003t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0001c0006t0001g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0002c0005t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| a0003c0004t0002g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0230 | EUR | FIN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0078 | EUR | FIN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0020 | EUR | FIN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0177 | EUR | FIN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00423 | hp2 | a0001 | c0001 | t0002 | g0137 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00438 | hp2 | a0001 | c0001 | t0002 | g0125 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0241 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00609 | hp2 | a0001 | c0001 | t0002 | g0143 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00621 | hp1 | a0001 | c0001 | t0002 | g0088 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00621 | hp2 | a0001 | c0001 | t0002 | g0124 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0199 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0099 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00673 | hp2 | a0001 | c0001 | t0002 | g0173 | EAS | CHS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0225 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0053 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01069 | hp1 | a0001 | c0001 | t0003 | g0212 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01070 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0224 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01071 | hp1 | a0001 | c0001 | t0003 | g0005 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0215 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0236 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0075 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0189 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0193 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0106 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0271 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0188 | AMR | PUR | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0228 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0094 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0050 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0229 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0101 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0171 | AMR | CLM | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0180 | EUR | IBS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0085 | EUR | IBS | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0273 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0033 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01952 | hp2 | a0001 | c0001 | t0002 | g0133 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0226 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0115 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0164 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0081 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0155 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0200 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0227 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02027 | hp2 | a0001 | c0001 | t0002 | g0122 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0172 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02040 | hp2 | a0001 | c0001 | t0002 | g0102 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0254 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0268 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0089 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0119 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | CDX | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0148 | EAS | CDX | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | CDX | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02165 | hp2 | a0001 | c0001 | t0005 | g0126 | EAS | CDX | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0265 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0213 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0100 | AMR | PEL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | KHV | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0016 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02572 | hp2 | a0001 | c0001 | t0004 | g0263 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0246 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0277 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0280 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02630 | hp2 | a0001 | c0001 | t0003 | g0004 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02809 | hp1 | a0001 | c0001 | t0002 | g0131 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0018 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0040 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0160 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0255 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0257 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0281 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0283 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0036 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0266 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0245 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02965 | hp2 | a0001 | c0001 | t0002 | g0163 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02976 | hp1 | a0001 | c0001 | t0002 | g0116 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0282 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0051 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0134 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03041 | hp1 | a0001 | c0006 | t0001 | g0279 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0250 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03098 | hp1 | a0001 | c0001 | t0004 | g0264 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0030 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03130 | hp1 | a0001 | c0001 | t0002 | g0017 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0249 | AFR | ESN | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0057 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0256 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0162 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0243 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0147 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0060 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0260 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0035 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0032 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0253 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0049 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03490 | hp2 | a0001 | c0001 | t0007 | g0284 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0258 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0276 | AFR | GWD | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0015 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0269 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0145 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0214 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03831 | hp1 | a0002 | c0005 | t0001 | g0204 | SAS | BEB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03831 | hp2 | a0001 | c0001 | t0002 | g0087 | SAS | BEB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03834 | hp1 | a0003 | c0004 | t0002 | g0144 | SAS | BEB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0069 | SAS | BEB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0021 | SAS | BEB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | BEB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04115 | hp1 | a0001 | c0001 | t0002 | g0097 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0076 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0132 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0128 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0231 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0059 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0130 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0027 | SAS | STU | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0007 | EAS | CHB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18747 | hp2 | a0001 | c0002 | t0001 | g0170 | EAS | CHB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0278 | AFR | YRI | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0275 | AFR | YRI | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18939 | hp1 | a0001 | c0001 | t0002 | g0111 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0118 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18944 | hp1 | a0001 | c0001 | t0002 | g0153 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0262 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18945 | hp2 | a0001 | c0001 | t0002 | g0166 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18948 | hp1 | a0001 | c0001 | t0002 | g0157 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18953 | hp1 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18961 | hp1 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0113 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18962 | hp2 | a0001 | c0001 | t0002 | g0167 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18963 | hp1 | a0001 | c0001 | t0002 | g0150 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18966 | hp2 | a0001 | c0001 | t0002 | g0117 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18967 | hp2 | a0001 | c0001 | t0002 | g0109 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18968 | hp1 | a0001 | c0001 | t0002 | g0110 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0108 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18975 | hp2 | a0001 | c0001 | t0002 | g0091 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18977 | hp1 | a0001 | c0001 | t0002 | g0156 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18978 | hp1 | a0001 | c0001 | t0002 | g0138 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0136 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18983 | hp1 | a0001 | c0001 | t0002 | g0129 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0073 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0104 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18991 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18993 | hp2 | a0001 | c0001 | t0002 | g0127 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18994 | hp2 | a0001 | c0001 | t0002 | g0120 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18995 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0135 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18998 | hp2 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0149 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0112 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19003 | hp1 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19006 | hp1 | a0001 | c0001 | t0002 | g0114 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0123 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0247 | AFR | LWK | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19030 | hp2 | a0001 | c0003 | t0001 | g0010 | AFR | LWK | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0251 | AFR | LWK | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0267 | AFR | LWK | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19055 | hp1 | a0001 | c0001 | t0002 | g0152 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19055 | hp2 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19063 | hp2 | a0001 | c0001 | t0002 | g0165 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19064 | hp1 | a0001 | c0001 | t0002 | g0140 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19065 | hp1 | a0001 | c0001 | t0002 | g0098 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0146 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19066 | hp2 | a0001 | c0001 | t0002 | g0154 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19068 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19070 | hp2 | a0001 | c0001 | t0002 | g0096 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0151 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19084 | hp2 | a0001 | c0001 | t0002 | g0139 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0261 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19086 | hp1 | a0001 | c0001 | t0002 | g0107 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19086 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0169 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19090 | hp2 | a0001 | c0001 | t0002 | g0121 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19091 | hp2 | a0001 | c0001 | t0002 | g0095 | EAS | JPT | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0270 | AFR | YRI | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | YRI | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0235 | AFR | ASW | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0248 | AFR | ASW | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0058 | EUR | TSI | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0185 | EUR | TSI | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0272 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0043 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02486 | hp2 | a0001 | c0001 | t0006 | g0198 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0161 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0242 | AFR | ACB | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03471 | hp1 | a0001 | c0001 | t0002 | g0259 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0274 | AFR | MSL | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | USA | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0252 | AFR | USA | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0244 | AFR | USA | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0159 | AFR | USA | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | LWK | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0090 | AFR | LWK | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0084 | REF | REF | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0071 | REF | REF | ATP6V1H_chr8_53710543_53848245 | ATP6V1H | chr8 | 53710543 | 53848245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:53715996 | C | T | 1 | a0002 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.1420G>A | p.Glu474Lys | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 14/14 | 1667/2120 | 1420/1452 | 474/483 | chr8 | 53715996 | |||
| chr8:53811210 | C | T | 1 | a0003 | 1 | HG03834.hp1 | missense_variant | MODERATE | c.533G>A | p.Arg178His | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/14 | 780/2120 | 533/1452 | 178/483 | chr8 | 53811210 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:53801876 | G | A | 1 | a0001c0006 | 1 | HG03041.hp1 | synonymous_variant | LOW | c.600C>T | p.Cys200Cys | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/14 | 847/2120 | 600/1452 | 200/483 | chr8 | 53801876 | |||
| chr8:53814674 | C | T | 1 | a0001c0003 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.513G>A | p.Gln171Gln | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/14 | 760/2120 | 513/1452 | 171/483 | chr8 | 53814674 | |||
| chr8:53841655 | A | T | 1 | a0001c0002 | 1 | NA18747.hp2 | synonymous_variant | LOW | c.36T>A | p.Ala12Ala | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/14 | 283/2120 | 36/1452 | 12/483 | chr8 | 53841655 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:53715551 | G | GATCGATA others(3): Show |
1 | a0001c0001t0004 | 2 | HG02572.hp2 HG03098.hp1 |
3_prime_UTR_variant | MODIFIER | c.*412_*413insATCTAT others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 14/14 | 412 | chr8 | 53715551 | ||||||
| chr8:53715678 | G | A | 1 | a0001c0001t0006 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*286C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 14/14 | 286 | chr8 | 53715678 | ||||||
| chr8:53715777 | C | T | 1 | a0001c0001t0003 | 4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*187G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 14/14 | 187 | chr8 | 53715777 | ||||||
| chr8:53715823 | T | C | 3 | a0001c0001t0002 a0001c0001t0005 a0003c0004t0002 |
102 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(99): Show |
3_prime_UTR_variant | MODIFIER | c.*141A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 14/14 | 141 | chr8 | 53715823 | ||||||
| chr8:53715888 | G | T | 1 | a0001c0001t0005 | 1 | HG02165.hp2 | 3_prime_UTR_variant | MODIFIER | c.*76C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 14/14 | 76 | chr8 | 53715888 | ||||||
| chr8:53843205 | G | C | 1 | a0001c0001t0007 | 1 | HG03490.hp2 | 5_prime_UTR_variant | MODIFIER | c.-207C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/14 | 1515 | chr8 | 53843205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:53716176 | C | A | 232 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(229): Show |
234 | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(231): Show |
intron_variant | MODIFIER | c.1392-152G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716176 | |||||||
| chr8:53716226 | G | C | 1 | a0001c0001t0002g0145 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1392-202C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716226 | |||||||
| chr8:53716257 | A | G | 2 | a0001c0001t0002g0255 a0001c0001t0002g0256 |
2 | HG02886.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1392-233T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716257 | |||||||
| chr8:53716342 | C | G | 84 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(81): Show |
86 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.1392-318G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716342 | |||||||
| chr8:53716544 | C | T | 1 | a0001c0001t0001g0079 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.1392-520G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716544 | |||||||
| chr8:53716770 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-746T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716770 | |||||||
| chr8:53716893 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1392-869A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53716893 | |||||||
| chr8:53717369 | C | T | 1 | a0001c0001t0001g0031 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1392-1345G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717369 | |||||||
| chr8:53717408 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-1384T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717408 | |||||||
| chr8:53717534 | G | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1392-1510C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717534 | |||||||
| chr8:53717542 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1392-1518C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717542 | |||||||
| chr8:53717636 | C | T | 1 | a0001c0001t0002g0136 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1392-1612G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717636 | |||||||
| chr8:53717833 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-1809A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717833 | |||||||
| chr8:53717966 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-1942T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53717966 | |||||||
| chr8:53718113 | A | T | 16 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(13): Show |
16 | HG00741.hp2 HG01192.hp2 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.1392-2089T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718113 | |||||||
| chr8:53718203 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1392-2179A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718203 | |||||||
| chr8:53718220 | C | A | 1 | a0001c0001t0002g0118 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1392-2196G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718220 | |||||||
| chr8:53718384 | A | AT | 20 | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0188 others(17): Show |
20 | HG00642.hp1 HG01243.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.1392-2361dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718384 | |||||||
| chr8:53718384 | A | ATT | 17 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(14): Show |
17 | HG01978.hp2 HG02027.hp2 HG02040.hp2 others(14): Show |
intron_variant | MODIFIER | c.1392-2362_1392-236 others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718384 | |||||||
| chr8:53718384 | A | ATTT | 76 | a0001c0001t0001g0024 a0001c0001t0001g0242 a0001c0001t0001g0243 others(73): Show |
78 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.1392-2363_1392-236 others(7): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718384 | |||||||
| chr8:53718384 | A | ATTTT | 15 | a0001c0001t0001g0014 a0001c0001t0002g0095 a0001c0001t0002g0101 others(12): Show |
15 | HG00438.hp2 HG01070.hp1 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.1392-2364_1392-236 others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718384 | |||||||
| chr8:53718384 | AT | A | 21 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 others(18): Show |
21 | HG00741.hp2 HG01192.hp2 HG01258.hp2 others(18): Show |
intron_variant | MODIFIER | c.1392-2361delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718384 | |||||||
| chr8:53718426 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1392-2402A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718426 | |||||||
| chr8:53718433 | G | A | 1 | a0001c0001t0002g0172 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1392-2409C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718433 | |||||||
| chr8:53718543 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1392-2519G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718543 | |||||||
| chr8:53718555 | A | T | 2 | a0001c0001t0001g0281 a0001c0001t0001g0283 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1392-2531T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718555 | |||||||
| chr8:53718574 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-2550G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718574 | |||||||
| chr8:53718590 | A | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1392-2566T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718590 | |||||||
| chr8:53718886 | G | C | 100 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(97): Show |
102 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(99): Show |
intron_variant | MODIFIER | c.1392-2862C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53718886 | |||||||
| chr8:53719120 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-3096G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719120 | |||||||
| chr8:53719156 | T | C | 5 | a0001c0001t0001g0009 a0001c0001t0001g0266 a0001c0001t0001g0267 others(2): Show |
5 | HG01192.hp1 HG02630.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1392-3132A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719156 | |||||||
| chr8:53719306 | G | T | 1 | a0001c0001t0001g0199 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1392-3282C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719306 | |||||||
| chr8:53719319 | C | T | 86 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(83): Show |
88 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.1392-3295G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719319 | |||||||
| chr8:53719356 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-3332T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719356 | |||||||
| chr8:53719375 | T | G | 40 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(37): Show |
41 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(38): Show |
intron_variant | MODIFIER | c.1392-3351A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719375 | |||||||
| chr8:53719449 | C | A | 1 | a0001c0001t0001g0042 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1392-3425G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719449 | |||||||
| chr8:53719493 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-3469C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719493 | |||||||
| chr8:53719575 | G | C | 1 | a0001c0001t0002g0261 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1392-3551C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719575 | |||||||
| chr8:53719588 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1392-3564G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719588 | |||||||
| chr8:53719970 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-3946G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719970 | |||||||
| chr8:53719989 | T | C | 2 | a0001c0001t0002g0017 a0001c0001t0002g0018 |
2 | HG02809.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1392-3965A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53719989 | |||||||
| chr8:53720003 | A | G | 1 | a0001c0001t0002g0117 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1392-3979T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720003 | |||||||
| chr8:53720282 | G | A | 4 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(1): Show |
4 | HG02074.hp2 HG02132.hp2 HG04199.hp2 others(1): Show |
intron_variant | MODIFIER | c.1392-4258C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720282 | |||||||
| chr8:53720292 | A | G | 14 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(11): Show |
14 | HG02055.hp1 HG02572.hp1 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.1392-4268T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720292 | |||||||
| chr8:53720294 | CCTA | C | 14 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(11): Show |
14 | HG02055.hp1 HG02572.hp1 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.1392-4273_1392-427 others(7): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720294 | |||||||
| chr8:53720545 | T | C | 13 | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0265 others(10): Show |
13 | HG00741.hp1 HG01192.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1392-4521A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720545 | |||||||
| chr8:53720905 | A | G | 1 | a0001c0001t0001g0206 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1392-4881T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720905 | |||||||
| chr8:53720931 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-4907A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720931 | |||||||
| chr8:53720959 | A | G | 22 | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0128 others(19): Show |
22 | HG00741.hp1 HG01192.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.1392-4935T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53720959 | |||||||
| chr8:53721031 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-5007C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721031 | |||||||
| chr8:53721044 | A | G | 1 | a0001c0001t0001g0214 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1392-5020T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721044 | |||||||
| chr8:53721259 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-5235A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721259 | |||||||
| chr8:53721308 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-5284C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721308 | |||||||
| chr8:53721421 | G | C | 102 | a0001c0001t0001g0011 a0001c0001t0001g0260 a0001c0001t0002g0001 others(99): Show |
104 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.1392-5397C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721421 | |||||||
| chr8:53721441 | A | G | 1 | a0001c0001t0001g0176 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1392-5417T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721441 | |||||||
| chr8:53721545 | A | G | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1392-5521T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721545 | |||||||
| chr8:53721649 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-5625C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721649 | |||||||
| chr8:53721684 | C | T | 10 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(7): Show |
10 | HG01109.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1392-5660G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721684 | |||||||
| chr8:53721685 | G | A | 1 | a0001c0001t0002g0090 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1392-5661C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721685 | |||||||
| chr8:53721735 | G | A | 3 | a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0164 |
3 | HG01952.hp2 HG01981.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.1392-5711C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721735 | |||||||
| chr8:53721977 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-5953T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53721977 | |||||||
| chr8:53722010 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-5986C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53722010 | |||||||
| chr8:53722027 | A | G | 1 | a0001c0001t0002g0151 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1392-6003T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53722027 | |||||||
| chr8:53722146 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-6122G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53722146 | |||||||
| chr8:53722574 | A | G | 2 | a0001c0001t0001g0075 a0001c0001t0001g0080 |
2 | HG01074.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.1392-6550T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53722574 | |||||||
| chr8:53722662 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1392-6638C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53722662 | |||||||
| chr8:53722771 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-6747T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53722771 | |||||||
| chr8:53723036 | T | C | 5 | a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0051 others(2): Show |
5 | HG00741.hp2 HG01192.hp2 HG01258.hp2 others(2): Show |
intron_variant | MODIFIER | c.1392-7012A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723036 | |||||||
| chr8:53723386 | C | G | 4 | a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show |
4 | NA18963.hp2 NA19003.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392-7362G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723386 | |||||||
| chr8:53723400 | T | C | 1 | a0001c0001t0002g0087 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1392-7376A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723400 | |||||||
| chr8:53723814 | G | A | 1 | a0001c0001t0002g0257 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1392-7790C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723814 | |||||||
| chr8:53723823 | C | T | 72 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(69): Show |
73 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.1392-7799G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723823 | |||||||
| chr8:53723825 | G | A | 14 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(11): Show |
14 | HG02055.hp1 HG02572.hp1 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.1392-7801C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723825 | |||||||
| chr8:53723991 | T | C | 1 | a0001c0001t0001g0177 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1392-7967A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53723991 | |||||||
| chr8:53724022 | A | G | 1 | a0001c0001t0002g0001 | 2 | NA18991.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.1392-7998T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724022 | |||||||
| chr8:53724111 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1392-8087A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724111 | |||||||
| chr8:53724116 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1392-8092G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724116 | |||||||
| chr8:53724292 | A | C | 1 | a0001c0001t0002g0173 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1392-8268T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724292 | |||||||
| chr8:53724332 | T | C | 100 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(97): Show |
102 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(99): Show |
intron_variant | MODIFIER | c.1392-8308A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724332 | |||||||
| chr8:53724401 | A | G | 86 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(83): Show |
88 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.1392-8377T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724401 | |||||||
| chr8:53724505 | C | A | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1392-8481G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724505 | |||||||
| chr8:53724510 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.1392-8486G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724510 | |||||||
| chr8:53724529 | T | C | 1 | a0001c0001t0002g0112 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1392-8505A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724529 | |||||||
| chr8:53724533 | A | G | 105 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(102): Show |
107 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(104): Show |
intron_variant | MODIFIER | c.1392-8509T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724533 | |||||||
| chr8:53724625 | C | T | 1 | a0001c0001t0002g0101 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1392-8601G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724625 | |||||||
| chr8:53724645 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1392-8621C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724645 | |||||||
| chr8:53724724 | A | T | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.1392-8700T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724724 | |||||||
| chr8:53724857 | G | GA | 86 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(83): Show |
88 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.1392-8834dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724857 | |||||||
| chr8:53724919 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-8895C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53724919 | |||||||
| chr8:53725004 | A | C | 1 | a0001c0001t0002g0156 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1392-8980T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725004 | |||||||
| chr8:53725168 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-9144C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725168 | |||||||
| chr8:53725199 | C | T | 1 | a0001c0001t0001g0185 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1392-9175G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725199 | |||||||
| chr8:53725250 | C | T | 1 | a0001c0001t0002g0134 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1392-9226G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725250 | |||||||
| chr8:53725391 | A | G | 1 | a0001c0001t0001g0049 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1392-9367T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725391 | |||||||
| chr8:53725458 | A | G | 115 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(112): Show |
117 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(114): Show |
intron_variant | MODIFIER | c.1392-9434T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725458 | |||||||
| chr8:53725573 | T | C | 110 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(107): Show |
112 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(109): Show |
intron_variant | MODIFIER | c.1392-9549A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725573 | |||||||
| chr8:53725600 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-9576A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725600 | |||||||
| chr8:53725654 | A | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1392-9630T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725654 | |||||||
| chr8:53725896 | A | G | 2 | a0001c0001t0001g0197 a0001c0001t0001g0237 |
2 | NA18967.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.1392-9872T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725896 | |||||||
| chr8:53725979 | C | A | 2 | a0001c0001t0001g0225 a0001c0001t0001g0226 |
2 | HG00735.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.1392-9955G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53725979 | |||||||
| chr8:53726064 | AAACATT | A | 86 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(83): Show |
88 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.1392-10046_1392-10 others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726064 | |||||||
| chr8:53726068 | A | G | 4 | a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0220 others(1): Show |
4 | NA18944.hp2 NA18969.hp1 NA19064.hp2 others(1): Show |
intron_variant | MODIFIER | c.1392-10044T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726068 | |||||||
| chr8:53726168 | C | T | 5 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG02895.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.1392-10144G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726168 | |||||||
| chr8:53726188 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-10164T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726188 | |||||||
| chr8:53726403 | AT | A | 5 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(2): Show |
5 | HG02145.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.1392-10380delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726403 | |||||||
| chr8:53726472 | A | G | 2 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | HG02615.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1392-10448T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726472 | |||||||
| chr8:53726595 | T | C | 1 | a0001c0001t0001g0211 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1392-10571A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726595 | |||||||
| chr8:53726990 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-10966A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53726990 | |||||||
| chr8:53727141 | T | C | 1 | a0001c0001t0001g0078 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1392-11117A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727141 | |||||||
| chr8:53727270 | T | G | 1 | a0001c0001t0001g0208 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.1392-11246A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727270 | |||||||
| chr8:53727272 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-11248C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727272 | |||||||
| chr8:53727323 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1392-11299A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727323 | |||||||
| chr8:53727509 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1392-11485G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727509 | |||||||
| chr8:53727684 | T | G | 3 | a0001c0001t0001g0025 a0001c0001t0001g0201 a0001c0001t0001g0239 |
3 | HG02523.hp2 NA18948.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.1392-11660A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727684 | |||||||
| chr8:53727735 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-11711T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727735 | |||||||
| chr8:53727873 | A | G | 86 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(83): Show |
88 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.1392-11849T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727873 | |||||||
| chr8:53727918 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1392-11894G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727918 | |||||||
| chr8:53727940 | T | C | 2 | a0001c0001t0002g0113 a0001c0001t0002g0114 |
2 | NA18962.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.1392-11916A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53727940 | |||||||
| chr8:53728083 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-12059C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728083 | |||||||
| chr8:53728093 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1392-12069G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728093 | |||||||
| chr8:53728291 | C | T | 7 | a0001c0001t0002g0087 a0001c0001t0002g0251 a0001c0001t0002g0252 others(4): Show |
7 | HG02055.hp1 HG02895.hp1 HG03486.hp2 others(4): Show |
intron_variant | MODIFIER | c.1392-12267G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728291 | |||||||
| chr8:53728625 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-12601G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728625 | |||||||
| chr8:53728717 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-12693A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728717 | |||||||
| chr8:53728771 | C | T | 1 | a0001c0001t0001g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1392-12747G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728771 | |||||||
| chr8:53728911 | C | T | 1 | a0001c0001t0001g0068 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1392-12887G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53728911 | |||||||
| chr8:53729019 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1392-12995T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53729019 | |||||||
| chr8:53729196 | G | GT | 33 | a0001c0001t0001g0062 a0001c0001t0001g0242 a0001c0001t0001g0243 others(30): Show |
33 | HG02055.hp1 HG02135.hp1 HG02559.hp2 others(30): Show |
intron_variant | MODIFIER | c.1392-13173dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53729196 | |||||||
| chr8:53729301 | T | C | 1 | a0003c0004t0002g0144 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1392-13277A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53729301 | |||||||
| chr8:53729357 | C | A | 110 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 others(107): Show |
111 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(108): Show |
intron_variant | MODIFIER | c.1392-13333G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53729357 | |||||||
| chr8:53729443 | C | G | 1 | a0001c0001t0002g0133 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1392-13419G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53729443 | |||||||
| chr8:53729984 | C | T | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1391+13593G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53729984 | |||||||
| chr8:53730037 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1391+13540C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730037 | |||||||
| chr8:53730041 | T | C | 8 | a0001c0001t0001g0070 a0001c0001t0001g0178 a0001c0001t0001g0183 others(5): Show |
8 | HG02132.hp1 HG02155.hp1 NA18971.hp2 others(5): Show |
intron_variant | MODIFIER | c.1391+13536A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730041 | |||||||
| chr8:53730219 | G | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1391+13358C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730219 | |||||||
| chr8:53730279 | T | A | 1 | a0001c0001t0002g0090 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1391+13298A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730279 | |||||||
| chr8:53730300 | A | G | 1 | a0001c0001t0001g0035 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1391+13277T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730300 | |||||||
| chr8:53730839 | G | A | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.1391+12738C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730839 | |||||||
| chr8:53730937 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+12640T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730937 | |||||||
| chr8:53730952 | T | G | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1391+12625A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53730952 | |||||||
| chr8:53731072 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1391+12505G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731072 | |||||||
| chr8:53731123 | A | G | 281 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(278): Show |
283 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(280): Show |
intron_variant | MODIFIER | c.1391+12454T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731123 | |||||||
| chr8:53731373 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+12204T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731373 | |||||||
| chr8:53731388 | C | T | 1 | a0001c0001t0001g0142 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1391+12189G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731388 | |||||||
| chr8:53731453 | C | T | 248 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(245): Show |
250 | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(247): Show |
intron_variant | MODIFIER | c.1391+12124G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731453 | |||||||
| chr8:53731525 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+12052T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731525 | |||||||
| chr8:53731651 | CG | C | 99 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(96): Show |
100 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(97): Show |
intron_variant | MODIFIER | c.1391+11925delC | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731651 | |||||||
| chr8:53731782 | T | A | 1 | a0001c0001t0001g0266 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1391+11795A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731782 | |||||||
| chr8:53731834 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+11743C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731834 | |||||||
| chr8:53731876 | G | A | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1391+11701C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731876 | |||||||
| chr8:53731881 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+11696C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731881 | |||||||
| chr8:53731906 | C | T | 1 | a0001c0001t0002g0134 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1391+11671G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731906 | |||||||
| chr8:53731969 | G | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1391+11608C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53731969 | |||||||
| chr8:53732287 | C | T | 1 | a0001c0001t0002g0101 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1391+11290G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732287 | |||||||
| chr8:53732378 | G | C | 1 | a0001c0001t0001g0054 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1391+11199C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732378 | |||||||
| chr8:53732554 | G | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1391+11023C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732554 | |||||||
| chr8:53732658 | C | CA | 7 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0065 others(4): Show |
7 | HG02129.hp1 HG02280.hp1 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.1391+10918dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732658 | |||||||
| chr8:53732672 | GA | G | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1391+10904delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732672 | |||||||
| chr8:53732814 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+10763G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732814 | |||||||
| chr8:53732903 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1391+10674C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53732903 | |||||||
| chr8:53733194 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1391+10383C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53733194 | |||||||
| chr8:53733414 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+10163G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53733414 | |||||||
| chr8:53733422 | G | A | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.1391+10155C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53733422 | |||||||
| chr8:53733727 | A | T | 1 | a0001c0001t0001g0066 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1391+9850T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53733727 | |||||||
| chr8:53734192 | T | C | 1 | a0001c0001t0002g0119 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1391+9385A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734192 | |||||||
| chr8:53734235 | A | T | 2 | a0001c0001t0001g0265 a0001c0001t0001g0275 |
2 | HG02280.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1391+9342T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734235 | |||||||
| chr8:53734311 | C | G | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1391+9266G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734311 | |||||||
| chr8:53734367 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1391+9210G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734367 | |||||||
| chr8:53734458 | A | G | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1391+9119T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734458 | |||||||
| chr8:53734518 | A | G | 101 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(98): Show |
102 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(99): Show |
intron_variant | MODIFIER | c.1391+9059T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734518 | |||||||
| chr8:53734534 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+9043T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734534 | |||||||
| chr8:53734809 | C | T | 1 | a0001c0001t0002g0118 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1391+8768G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734809 | |||||||
| chr8:53734933 | G | A | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.1391+8644C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53734933 | |||||||
| chr8:53735198 | A | T | 1 | a0001c0001t0001g0060 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1391+8379T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735198 | |||||||
| chr8:53735262 | C | T | 3 | a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 |
3 | HG02886.hp1 HG03209.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1391+8315G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735262 | |||||||
| chr8:53735303 | C | A | 103 | a0001c0001t0001g0011 a0001c0001t0001g0242 a0001c0001t0001g0243 others(100): Show |
104 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.1391+8274G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735303 | |||||||
| chr8:53735352 | G | A | 14 | a0001c0001t0001g0009 a0001c0001t0001g0265 a0001c0001t0001g0266 others(11): Show |
14 | HG01192.hp1 HG01891.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.1391+8225C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735352 | |||||||
| chr8:53735447 | T | C | 1 | a0001c0001t0002g0097 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1391+8130A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735447 | |||||||
| chr8:53735537 | T | A | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1391+8040A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735537 | |||||||
| chr8:53735541 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+8036C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735541 | |||||||
| chr8:53735599 | C | A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1391+7978G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735599 | |||||||
| chr8:53735682 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+7895G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735682 | |||||||
| chr8:53735820 | T | A | 1 | a0001c0001t0001g0180 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1391+7757A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735820 | |||||||
| chr8:53735865 | T | C | 101 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(98): Show |
102 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(99): Show |
intron_variant | MODIFIER | c.1391+7712A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735865 | |||||||
| chr8:53735970 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+7607G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735970 | |||||||
| chr8:53735999 | T | C | 1 | a0001c0001t0002g0145 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1391+7578A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53735999 | |||||||
| chr8:53736139 | T | C | 1 | a0001c0001t0001g0142 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1391+7438A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736139 | |||||||
| chr8:53736184 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+7393A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736184 | |||||||
| chr8:53736327 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+7250C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736327 | |||||||
| chr8:53736368 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1391+7209C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736368 | |||||||
| chr8:53736464 | T | G | 111 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(108): Show |
112 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(109): Show |
intron_variant | MODIFIER | c.1391+7113A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736464 | |||||||
| chr8:53736677 | TA | T | 99 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(96): Show |
100 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(97): Show |
intron_variant | MODIFIER | c.1391+6899delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736677 | |||||||
| chr8:53736712 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1391+6865G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736712 | |||||||
| chr8:53736825 | G | A | 1 | a0001c0001t0002g0112 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1391+6752C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736825 | |||||||
| chr8:53736870 | C | G | 2 | a0001c0001t0001g0009 a0001c0001t0001g0276 |
2 | HG02630.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1391+6707G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53736870 | |||||||
| chr8:53737058 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+6519A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737058 | |||||||
| chr8:53737166 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+6411A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737166 | |||||||
| chr8:53737229 | A | T | 3 | a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0164 |
3 | HG01952.hp2 HG01981.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.1391+6348T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737229 | |||||||
| chr8:53737231 | AGTGCACT others(8): Show |
A | 3 | a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0164 |
3 | HG01952.hp2 HG01981.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.1391+6331_1391+634 others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737231 | |||||||
| chr8:53737249 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+6328C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737249 | |||||||
| chr8:53737295 | T | C | 1 | a0001c0001t0002g0131 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1391+6282A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737295 | |||||||
| chr8:53737322 | T | G | 1 | a0001c0001t0001g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.1391+6255A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737322 | |||||||
| chr8:53737523 | A | G | 160 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(157): Show |
162 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(159): Show |
intron_variant | MODIFIER | c.1391+6054T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737523 | |||||||
| chr8:53737605 | T | C | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1391+5972A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737605 | |||||||
| chr8:53737608 | C | A | 104 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(101): Show |
105 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1391+5969G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737608 | |||||||
| chr8:53737626 | T | C | 1 | a0001c0001t0002g0090 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1391+5951A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737626 | |||||||
| chr8:53737656 | C | G | 3 | a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0083 |
3 | NA18990.hp2 NA19060.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.1391+5921G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737656 | |||||||
| chr8:53737804 | T | A | 9 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0087 others(6): Show |
9 | HG02055.hp1 HG02809.hp2 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.1391+5773A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737804 | |||||||
| chr8:53737902 | T | C | 2 | a0001c0001t0001g0199 a0001c0001t0001g0235 |
2 | HG00642.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1391+5675A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53737902 | |||||||
| chr8:53738105 | T | C | 2 | a0001c0001t0001g0182 a0001c0001t0001g0217 |
2 | HG01952.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.1391+5472A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738105 | |||||||
| chr8:53738133 | T | C | 94 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(91): Show |
95 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.1391+5444A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738133 | |||||||
| chr8:53738253 | C | T | 1 | a0001c0001t0002g0172 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1391+5324G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738253 | |||||||
| chr8:53738282 | G | T | 1 | a0001c0001t0001g0058 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1391+5295C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738282 | |||||||
| chr8:53738296 | C | CA | 94 | a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0141 others(91): Show |
96 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(93): Show |
intron_variant | MODIFIER | c.1391+5280dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738296 | |||||||
| chr8:53738296 | C | CAA | 41 | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0242 others(38): Show |
41 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.1391+5279_1391+528 others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738296 | |||||||
| chr8:53738318 | C | T | 3 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 |
3 | HG02055.hp2 HG03579.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1391+5259G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738318 | |||||||
| chr8:53738617 | T | C | 13 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(10): Show |
13 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.1391+4960A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738617 | |||||||
| chr8:53738745 | G | A | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
107 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(104): Show |
intron_variant | MODIFIER | c.1391+4832C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738745 | |||||||
| chr8:53738759 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1391+4818C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738759 | |||||||
| chr8:53738806 | A | T | 1 | a0001c0001t0001g0180 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1391+4771T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738806 | |||||||
| chr8:53738861 | T | C | 1 | a0001c0001t0002g0001 | 2 | NA18991.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.1391+4716A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738861 | |||||||
| chr8:53738935 | A | G | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1391+4642T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53738935 | |||||||
| chr8:53739130 | TTAATTTA others(13): Show |
T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+4427_1391+444 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739130 | |||||||
| chr8:53739288 | T | G | 2 | a0001c0001t0002g0096 a0001c0001t0002g0169 |
2 | NA19070.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.1391+4289A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739288 | |||||||
| chr8:53739396 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+4181A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739396 | |||||||
| chr8:53739465 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1391+4112A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739465 | |||||||
| chr8:53739522 | T | C | 1 | a0001c0001t0002g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1391+4055A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739522 | |||||||
| chr8:53739524 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+4053T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739524 | |||||||
| chr8:53739623 | C | T | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1391+3954G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739623 | |||||||
| chr8:53739680 | A | G | 1 | a0001c0001t0001g0234 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1391+3897T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739680 | |||||||
| chr8:53739836 | C | A | 70 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(67): Show |
71 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.1391+3741G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53739836 | |||||||
| chr8:53740123 | A | G | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1391+3454T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53740123 | |||||||
| chr8:53740632 | C | T | 103 | a0001c0001t0001g0011 a0001c0001t0001g0242 a0001c0001t0001g0243 others(100): Show |
104 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.1391+2945G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53740632 | |||||||
| chr8:53740641 | T | G | 1 | a0001c0001t0002g0101 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1391+2936A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53740641 | |||||||
| chr8:53740677 | C | T | 1 | a0001c0001t0001g0177 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1391+2900G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53740677 | |||||||
| chr8:53740980 | G | C | 5 | a0001c0001t0001g0070 a0001c0001t0001g0178 a0001c0001t0001g0183 others(2): Show |
5 | HG02132.hp1 HG02155.hp1 NA18971.hp2 others(2): Show |
intron_variant | MODIFIER | c.1391+2597C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53740980 | |||||||
| chr8:53741023 | A | G | 1 | a0001c0001t0001g0224 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1391+2554T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741023 | |||||||
| chr8:53741149 | A | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1391+2428T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741149 | |||||||
| chr8:53741458 | T | C | 1 | a0001c0001t0001g0008 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1391+2119A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741458 | |||||||
| chr8:53741641 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1391+1936C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741641 | |||||||
| chr8:53741677 | A | G | 1 | a0001c0001t0002g0131 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1391+1900T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741677 | |||||||
| chr8:53741679 | C | T | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.1391+1898G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741679 | |||||||
| chr8:53741797 | T | C | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1391+1780A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741797 | |||||||
| chr8:53741903 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1391+1674G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53741903 | |||||||
| chr8:53742190 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1391+1387G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53742190 | |||||||
| chr8:53742681 | T | C | 1 | a0001c0001t0001g0207 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1391+896A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53742681 | |||||||
| chr8:53742684 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+893C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53742684 | |||||||
| chr8:53742706 | T | C | 104 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(101): Show |
105 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1391+871A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53742706 | |||||||
| chr8:53742718 | T | C | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1391+859A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53742718 | |||||||
| chr8:53743013 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1391+564A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53743013 | |||||||
| chr8:53743255 | G | A | 1 | a0001c0001t0002g0131 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1391+322C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53743255 | |||||||
| chr8:53743363 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1391+214A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53743363 | |||||||
| chr8:53743534 | T | C | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1391+43A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | 53743534 | |||||||
| chr8:53743742 | A | G | 1 | a0001c0001t0001g0063 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1278-52T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53743742 | |||||||
| chr8:53743859 | T | C | 1 | a0001c0001t0007g0284 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1278-169A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53743859 | |||||||
| chr8:53743872 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-182C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53743872 | |||||||
| chr8:53743905 | G | A | 2 | a0001c0001t0002g0015 a0001c0001t0002g0016 |
2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1278-215C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53743905 | |||||||
| chr8:53743988 | T | C | 1 | a0001c0001t0001g0044 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.1278-298A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53743988 | |||||||
| chr8:53744109 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1278-419A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53744109 | |||||||
| chr8:53744111 | C | T | 103 | a0001c0001t0001g0011 a0001c0001t0001g0242 a0001c0001t0001g0243 others(100): Show |
104 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.1278-421G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53744111 | |||||||
| chr8:53744392 | T | G | 99 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(96): Show |
100 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(97): Show |
intron_variant | MODIFIER | c.1278-702A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53744392 | |||||||
| chr8:53744427 | T | A | 2 | a0001c0001t0001g0206 a0001c0001t0002g0127 |
2 | NA18993.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.1278-737A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53744427 | |||||||
| chr8:53744870 | T | C | 1 | a0001c0001t0001g0064 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.1278-1180A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53744870 | |||||||
| chr8:53745090 | A | T | 94 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(91): Show |
95 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.1278-1400T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745090 | |||||||
| chr8:53745193 | G | A | 1 | a0001c0001t0001g0234 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1278-1503C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745193 | |||||||
| chr8:53745226 | C | A | 3 | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 |
3 | NA18944.hp2 NA18969.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1278-1536G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745226 | |||||||
| chr8:53745337 | A | T | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1278-1647T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745337 | |||||||
| chr8:53745386 | A | C | 1 | a0001c0001t0001g0056 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1278-1696T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745386 | |||||||
| chr8:53745399 | T | TA | 8 | a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0031 others(5): Show |
8 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(5): Show |
intron_variant | MODIFIER | c.1278-1710dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745399 | |||||||
| chr8:53745504 | G | A | 1 | a0001c0001t0002g0115 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1278-1814C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745504 | |||||||
| chr8:53745595 | C | T | 94 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(91): Show |
95 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.1278-1905G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745595 | |||||||
| chr8:53745800 | T | C | 105 | a0001c0001t0001g0011 a0001c0001t0001g0242 a0001c0001t0001g0243 others(102): Show |
106 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(103): Show |
intron_variant | MODIFIER | c.1278-2110A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745800 | |||||||
| chr8:53745801 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-2111C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745801 | |||||||
| chr8:53745990 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-2300G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53745990 | |||||||
| chr8:53746241 | A | C | 2 | a0001c0001t0001g0197 a0001c0001t0001g0237 |
2 | NA18967.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.1278-2551T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746241 | |||||||
| chr8:53746333 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-2643G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746333 | |||||||
| chr8:53746421 | C | T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0051 |
2 | HG01192.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1278-2731G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746421 | |||||||
| chr8:53746435 | T | C | 1 | a0001c0001t0002g0115 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1278-2745A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746435 | |||||||
| chr8:53746644 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-2954C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746644 | |||||||
| chr8:53746646 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1278-2956C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746646 | |||||||
| chr8:53746688 | A | G | 2 | a0001c0001t0001g0205 a0001c0001t0001g0216 |
2 | HG00423.hp1 HG00673.hp1 |
intron_variant | MODIFIER | c.1278-2998T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746688 | |||||||
| chr8:53746897 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-3207C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746897 | |||||||
| chr8:53746903 | T | C | 1 | a0001c0001t0002g0132 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1278-3213A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746903 | |||||||
| chr8:53746999 | G | A | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1278-3309C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53746999 | |||||||
| chr8:53747003 | A | G | 3 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 |
3 | HG02559.hp1 HG02818.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1278-3313T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747003 | |||||||
| chr8:53747069 | T | C | 1 | a0001c0001t0001g0142 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1278-3379A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747069 | |||||||
| chr8:53747076 | A | C | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1278-3386T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747076 | |||||||
| chr8:53747094 | G | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1278-3404C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747094 | |||||||
| chr8:53747313 | G | C | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1278-3623C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747313 | |||||||
| chr8:53747433 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1278-3743A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747433 | |||||||
| chr8:53747482 | A | AT | 7 | a0001c0001t0001g0082 a0001c0001t0002g0159 a0001c0001t0002g0160 others(4): Show |
7 | HG02559.hp1 HG02818.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1278-3793dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747482 | |||||||
| chr8:53747490 | T | A | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1278-3800A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747490 | |||||||
| chr8:53747513 | T | C | 1 | a0001c0001t0001g0277 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1278-3823A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747513 | |||||||
| chr8:53747526 | C | CT | 101 | a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0043 others(98): Show |
102 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(99): Show |
intron_variant | MODIFIER | c.1278-3837dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747526 | |||||||
| chr8:53747526 | C | CTT | 6 | a0001c0001t0001g0247 a0001c0001t0002g0107 a0001c0001t0002g0112 others(3): Show |
6 | HG02886.hp1 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.1278-3838_1278-383 others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747526 | |||||||
| chr8:53747741 | C | T | 1 | a0001c0001t0002g0007 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1278-4051G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747741 | |||||||
| chr8:53747830 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1278-4140G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53747830 | |||||||
| chr8:53748190 | C | T | 1 | a0001c0001t0001g0223 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1278-4500G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748190 | |||||||
| chr8:53748209 | T | TAAGCTCC others(5): Show |
1 | a0001c0001t0001g0042 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1278-4531_1278-452 others(16): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748209 | |||||||
| chr8:53748220 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1278-4530C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748220 | |||||||
| chr8:53748245 | C | T | 1 | a0001c0001t0002g0104 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1278-4555G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748245 | |||||||
| chr8:53748246 | G | A | 2 | a0001c0001t0002g0101 a0001c0001t0002g0134 |
2 | HG01358.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.1278-4556C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748246 | |||||||
| chr8:53748385 | C | T | 27 | a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 others(24): Show |
27 | HG00621.hp2 HG00642.hp2 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.1278-4695G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748385 | |||||||
| chr8:53748569 | A | G | 1 | a0001c0001t0001g0008 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1278-4879T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748569 | |||||||
| chr8:53748889 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1278-5199G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53748889 | |||||||
| chr8:53749021 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1278-5331C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749021 | |||||||
| chr8:53749135 | G | C | 104 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(101): Show |
105 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1278-5445C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749135 | |||||||
| chr8:53749261 | A | G | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1278-5571T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749261 | |||||||
| chr8:53749379 | T | G | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1278-5689A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749379 | |||||||
| chr8:53749394 | G | A | 1 | a0001c0001t0001g0222 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.1278-5704C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749394 | |||||||
| chr8:53749460 | A | G | 1 | a0001c0001t0002g0254 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1278-5770T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749460 | |||||||
| chr8:53749577 | C | T | 2 | a0001c0001t0002g0015 a0001c0001t0002g0016 |
2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1278-5887G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749577 | |||||||
| chr8:53749743 | T | TA | 76 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0206 others(73): Show |
77 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.1278-6054dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749743 | |||||||
| chr8:53749743 | TA | T | 10 | a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0078 others(7): Show |
10 | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(7): Show |
intron_variant | MODIFIER | c.1278-6054delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749743 | |||||||
| chr8:53749920 | G | A | 1 | a0001c0001t0002g0164 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1278-6230C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749920 | |||||||
| chr8:53749934 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1278-6244C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53749934 | |||||||
| chr8:53750230 | C | A | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.1277+6325G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750230 | |||||||
| chr8:53750238 | AGTAATTG others(4): Show |
A | 1 | a0001c0001t0001g0042 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1277+6306_1277+631 others(15): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750238 | |||||||
| chr8:53750668 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+5887T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750668 | |||||||
| chr8:53750712 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0055 |
2 | NA18939.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1277+5843G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750712 | |||||||
| chr8:53750719 | T | C | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.1277+5836A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750719 | |||||||
| chr8:53750731 | T | C | 1 | a0001c0001t0001g0052 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1277+5824A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750731 | |||||||
| chr8:53750826 | T | G | 1 | a0001c0001t0001g0181 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1277+5729A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750826 | |||||||
| chr8:53750947 | C | CT | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1277+5607dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53750947 | |||||||
| chr8:53751027 | G | C | 2 | a0001c0001t0001g0019 a0001c0001t0001g0055 |
2 | NA18939.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1277+5528C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751027 | |||||||
| chr8:53751116 | T | TACC | 70 | a0001c0001t0001g0066 a0001c0001t0002g0002 a0001c0001t0002g0007 others(67): Show |
71 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.1277+5436_1277+543 others(7): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751116 | |||||||
| chr8:53751146 | G | T | 70 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(67): Show |
71 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.1277+5409C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751146 | |||||||
| chr8:53751257 | C | G | 1 | a0001c0001t0001g0051 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1277+5298G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751257 | |||||||
| chr8:53751425 | C | T | 70 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(67): Show |
71 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.1277+5130G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751425 | |||||||
| chr8:53751586 | G | T | 1 | a0001c0001t0002g0162 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1277+4969C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751586 | |||||||
| chr8:53751673 | C | CT | 107 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(104): Show |
108 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(105): Show |
intron_variant | MODIFIER | c.1277+4881dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751673 | |||||||
| chr8:53751724 | C | T | 2 | a0001c0001t0001g0064 a0001c0001t0001g0083 |
2 | NA18990.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1277+4831G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751724 | |||||||
| chr8:53751773 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1277+4782C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53751773 | |||||||
| chr8:53752029 | G | A | 104 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(101): Show |
105 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1277+4526C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752029 | |||||||
| chr8:53752379 | T | C | 4 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0069 others(1): Show |
4 | HG00323.hp1 HG01517.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277+4176A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752379 | |||||||
| chr8:53752395 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+4160C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752395 | |||||||
| chr8:53752412 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+4143C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752412 | |||||||
| chr8:53752490 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+4065C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752490 | |||||||
| chr8:53752551 | T | C | 2 | a0001c0001t0001g0027 a0001c0001t0001g0171 |
2 | HG01433.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1277+4004A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752551 | |||||||
| chr8:53752829 | C | T | 3 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 |
3 | HG01358.hp2 HG03239.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.1277+3726G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752829 | |||||||
| chr8:53752839 | C | T | 2 | a0001c0001t0001g0260 a0001c0001t0002g0103 |
2 | HG03453.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.1277+3716G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53752839 | |||||||
| chr8:53753061 | A | G | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1277+3494T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753061 | |||||||
| chr8:53753081 | C | CT | 78 | a0001c0001t0001g0011 a0001c0001t0001g0076 a0001c0001t0001g0180 others(75): Show |
79 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.1277+3473dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753081 | |||||||
| chr8:53753198 | G | C | 2 | a0001c0001t0002g0017 a0001c0001t0002g0018 |
2 | HG02809.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1277+3357C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753198 | |||||||
| chr8:53753395 | A | C | 1 | a0001c0001t0001g0231 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1277+3160T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753395 | |||||||
| chr8:53753404 | A | C | 2 | a0001c0001t0002g0015 a0001c0001t0002g0016 |
2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1277+3151T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753404 | |||||||
| chr8:53753427 | G | A | 96 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(93): Show |
97 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(94): Show |
intron_variant | MODIFIER | c.1277+3128C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753427 | |||||||
| chr8:53753514 | T | C | 1 | a0001c0001t0002g0113 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1277+3041A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753514 | |||||||
| chr8:53753673 | A | G | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1277+2882T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753673 | |||||||
| chr8:53753942 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+2613C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53753942 | |||||||
| chr8:53754066 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+2489C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754066 | |||||||
| chr8:53754082 | A | G | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1277+2473T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754082 | |||||||
| chr8:53754145 | C | A | 1 | a0001c0001t0001g0222 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.1277+2410G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754145 | |||||||
| chr8:53754201 | G | A | 5 | a0001c0001t0001g0070 a0001c0001t0001g0178 a0001c0001t0001g0183 others(2): Show |
5 | HG02132.hp1 HG02155.hp1 NA18971.hp2 others(2): Show |
intron_variant | MODIFIER | c.1277+2354C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754201 | |||||||
| chr8:53754355 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1277+2200G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754355 | |||||||
| chr8:53754362 | A | G | 3 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 |
3 | HG02896.hp2 HG02897.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1277+2193T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754362 | |||||||
| chr8:53754407 | G | T | 113 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(110): Show |
114 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(111): Show |
intron_variant | MODIFIER | c.1277+2148C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754407 | |||||||
| chr8:53754460 | C | A | 1 | a0001c0001t0001g0063 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1277+2095G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754460 | |||||||
| chr8:53754652 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1277+1903A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754652 | |||||||
| chr8:53754794 | A | G | 143 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(140): Show |
145 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(142): Show |
intron_variant | MODIFIER | c.1277+1761T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754794 | |||||||
| chr8:53754868 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1277+1687C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53754868 | |||||||
| chr8:53755010 | C | G | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1277+1545G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755010 | |||||||
| chr8:53755080 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+1475C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755080 | |||||||
| chr8:53755176 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+1379C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755176 | |||||||
| chr8:53755264 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+1291A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755264 | |||||||
| chr8:53755302 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+1253A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755302 | |||||||
| chr8:53755306 | T | C | 7 | a0001c0001t0001g0011 a0001c0001t0001g0260 a0001c0001t0002g0159 others(4): Show |
7 | HG02280.hp1 HG02559.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1277+1249A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755306 | |||||||
| chr8:53755460 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+1095G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755460 | |||||||
| chr8:53755514 | T | A | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1277+1041A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755514 | |||||||
| chr8:53755637 | A | C | 1 | a0001c0001t0001g0062 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1277+918T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755637 | |||||||
| chr8:53755672 | T | G | 1 | a0001c0001t0002g0125 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1277+883A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755672 | |||||||
| chr8:53755676 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+879T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755676 | |||||||
| chr8:53755685 | C | CATATATA others(5): Show |
1 | a0001c0001t0001g0176 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1277+858_1277+869d others(14): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CAT | C | 9 | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 others(6): Show |
9 | HG01891.hp2 HG02055.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1277+868_1277+869d others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATAT | C | 6 | a0001c0001t0001g0003 a0001c0001t0001g0179 a0001c0001t0001g0181 others(3): Show |
6 | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.1277+866_1277+869d others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATAT | C | 15 | a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0185 others(12): Show |
15 | HG00280.hp1 HG00673.hp2 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.1277+864_1277+869d others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(1): Show |
C | 13 | a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show |
13 | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.1277+862_1277+869d others(10): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(3): Show |
C | 6 | a0001c0001t0001g0083 a0001c0001t0001g0171 a0001c0001t0001g0180 others(3): Show |
6 | HG01433.hp2 HG01517.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277+860_1277+869d others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(5): Show |
C | 2 | a0001c0001t0001g0066 a0001c0001t0001g0214 |
2 | HG02027.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1277+858_1277+869d others(14): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(7): Show |
C | 3 | a0001c0001t0001g0082 a0001c0001t0001g0241 a0001c0001t0002g0254 |
3 | HG00609.hp1 HG02055.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1277+856_1277+869d others(16): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(9): Show |
C | 4 | a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0213 others(1): Show |
4 | HG01981.hp2 HG02165.hp1 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277+854_1277+869d others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(11): Show |
C | 4 | a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0283 others(1): Show |
4 | HG00438.hp1 HG02897.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277+852_1277+869d others(20): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(13): Show |
C | 3 | a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0276 |
3 | HG02886.hp2 HG03486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1277+850_1277+869d others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(15): Show |
C | 2 | a0001c0001t0002g0256 a0001c0001t0003g0004 |
2 | HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1277+848_1277+869d others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(17): Show |
C | 5 | a0001c0001t0001g0062 a0001c0001t0001g0271 a0001c0001t0002g0258 others(2): Show |
5 | HG01070.hp1 HG01071.hp1 HG01192.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277+846_1277+869d others(26): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(19): Show |
C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1277+844_1277+869d others(28): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(23): Show |
C | 2 | a0001c0001t0001g0221 a0001c0001t0002g0253 |
2 | HG03486.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.1277+840_1277+869d others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(25): Show |
C | 8 | a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 others(5): Show |
8 | HG00423.hp2 HG02027.hp2 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1277+838_1277+869d others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(27): Show |
C | 15 | a0001c0001t0002g0013 a0001c0001t0002g0088 a0001c0001t0002g0094 others(12): Show |
15 | HG00621.hp1 HG00642.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.1277+836_1277+869d others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(37): Show |
C | 2 | a0001c0001t0001g0008 a0001c0001t0001g0245 |
2 | HG02145.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1277+826_1277+869d others(46): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755685 | CATATATA others(347): Show |
C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+516_1277+869d others(2): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755685 | |||||||
| chr8:53755686 | A | T | 72 | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0242 others(69): Show |
73 | HG00609.hp2 HG00621.hp2 HG01169.hp2 others(70): Show |
intron_variant | MODIFIER | c.1277+869T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755686 | |||||||
| chr8:53755688 | A | T | 2 | a0001c0001t0001g0042 a0001c0001t0002g0251 |
2 | HG02486.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1277+867T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755688 | |||||||
| chr8:53755696 | A | T | 1 | a0001c0001t0002g0257 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1277+859T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755696 | |||||||
| chr8:53755700 | A | T | 1 | a0001c0001t0002g0254 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1277+855T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755700 | |||||||
| chr8:53755700 | ATATATAT others(38): Show |
A | 6 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(3): Show |
6 | HG02559.hp2 HG02615.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.1277+810_1277+854d others(47): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755700 | |||||||
| chr8:53755700 | ATATATAT others(39): Show |
A | 1 | a0001c0001t0001g0249 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1277+809_1277+854d others(48): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755700 | |||||||
| chr8:53755702 | A | T | 1 | a0001c0001t0002g0018 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277+853T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755702 | |||||||
| chr8:53755702 | ATATATAT others(36): Show |
A | 1 | a0001c0001t0001g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1277+810_1277+852d others(45): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755702 | |||||||
| chr8:53755703 | TATATATA others(32): Show |
T | 1 | a0001c0001t0002g0001 | 2 | NA18991.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.1277+813_1277+851d others(41): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755703 | |||||||
| chr8:53755703 | TATATATA others(34): Show |
T | 1 | a0001c0001t0001g0141 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1277+811_1277+851d others(43): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755703 | |||||||
| chr8:53755704 | A | T | 1 | a0001c0001t0002g0017 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1277+851T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755704 | |||||||
| chr8:53755705 | TATATATA others(28): Show |
T | 2 | a0001c0001t0005g0126 a0001c0003t0001g0010 |
2 | HG02165.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1277+815_1277+849d others(37): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755705 | |||||||
| chr8:53755706 | A | T | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1277+849T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755706 | |||||||
| chr8:53755708 | A | T | 1 | a0001c0001t0002g0256 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1277+847T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755708 | |||||||
| chr8:53755710 | A | T | 1 | a0001c0001t0002g0258 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1277+845T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755710 | |||||||
| chr8:53755710 | ATATATAT others(28): Show |
A | 27 | a0001c0001t0002g0002 a0001c0001t0002g0089 a0001c0001t0002g0100 others(24): Show |
27 | HG00609.hp2 HG01169.hp2 HG01981.hp1 others(24): Show |
intron_variant | MODIFIER | c.1277+810_1277+844d others(37): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755710 | |||||||
| chr8:53755710 | ATATATAT others(29): Show |
A | 6 | a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0002g0117 others(3): Show |
6 | HG01358.hp1 HG01993.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277+809_1277+844d others(38): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755710 | |||||||
| chr8:53755710 | ATATATAT others(40): Show |
A | 1 | a0001c0001t0002g0261 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1277+798_1277+844d others(49): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755710 | |||||||
| chr8:53755711 | T | A | 2 | a0001c0001t0002g0147 a0001c0001t0002g0148 |
2 | HG02155.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.1277+844A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755711 | |||||||
| chr8:53755711 | TATATATA others(22): Show |
T | 1 | a0001c0001t0001g0186 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1277+815_1277+843d others(31): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755711 | |||||||
| chr8:53755712 | ATATATAT others(26): Show |
A | 15 | a0001c0001t0002g0007 a0001c0001t0002g0092 a0001c0001t0002g0104 others(12): Show |
15 | HG00621.hp2 NA18747.hp1 NA18944.hp1 others(12): Show |
intron_variant | MODIFIER | c.1277+810_1277+842d others(35): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755712 | |||||||
| chr8:53755712 | ATATATAT others(27): Show |
A | 3 | a0001c0001t0002g0093 a0001c0001t0002g0147 a0001c0001t0002g0148 |
3 | HG02155.hp2 HG03239.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.1277+809_1277+842d others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755712 | |||||||
| chr8:53755713 | T | A | 1 | a0001c0001t0002g0149 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1277+842A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755713 | |||||||
| chr8:53755713 | TATATATA others(24): Show |
T | 2 | a0001c0001t0001g0201 a0001c0001t0001g0239 |
2 | NA18948.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.1277+811_1277+841d others(33): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755713 | |||||||
| chr8:53755714 | ATATATAT others(24): Show |
A | 1 | a0001c0001t0002g0002 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1277+810_1277+840d others(33): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755714 | |||||||
| chr8:53755714 | ATATATAT others(25): Show |
A | 1 | a0001c0001t0002g0149 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1277+809_1277+840d others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755714 | |||||||
| chr8:53755715 | TATATATA others(20): Show |
T | 1 | a0001c0001t0001g0040 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1277+813_1277+839d others(29): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755715 | |||||||
| chr8:53755716 | A | T | 1 | a0001c0001t0002g0253 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1277+839T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755716 | |||||||
| chr8:53755716 | ATATATAT others(22): Show |
A | 1 | a0001c0001t0002g0108 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1277+810_1277+838d others(31): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755716 | |||||||
| chr8:53755717 | TATATATA others(18): Show |
T | 1 | a0001c0001t0006g0198 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1277+813_1277+837d others(27): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755717 | |||||||
| chr8:53755717 | TATATATA others(20): Show |
T | 1 | a0001c0001t0001g0142 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1277+811_1277+837d others(29): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755717 | |||||||
| chr8:53755718 | A | T | 8 | a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 others(5): Show |
8 | HG00423.hp2 HG02027.hp2 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1277+837T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755718 | |||||||
| chr8:53755718 | ATATATAT others(20): Show |
A | 1 | a0001c0001t0001g0020 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1277+810_1277+836d others(29): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755718 | |||||||
| chr8:53755718 | ATATATAT others(23): Show |
A | 1 | a0001c0001t0001g0273 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1277+807_1277+836d others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755718 | |||||||
| chr8:53755718 | ATATATAT others(28): Show |
A | 1 | a0001c0001t0001g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.1277+802_1277+836d others(37): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755718 | |||||||
| chr8:53755719 | TATATATA others(14): Show |
T | 1 | a0001c0001t0003g0212 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1277+815_1277+835d others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755719 | |||||||
| chr8:53755720 | A | T | 15 | a0001c0001t0002g0013 a0001c0001t0002g0088 a0001c0001t0002g0094 others(12): Show |
15 | HG00621.hp1 HG00642.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.1277+835T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755720 | |||||||
| chr8:53755720 | ATATATAT others(21): Show |
A | 4 | a0001c0001t0001g0012 a0001c0001t0001g0272 a0001c0001t0001g0274 others(1): Show |
4 | HG02109.hp1 HG02896.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277+807_1277+834d others(30): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755720 | |||||||
| chr8:53755720 | ATATATAT others(25): Show |
A | 1 | a0001c0001t0001g0217 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1277+803_1277+834d others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755720 | |||||||
| chr8:53755722 | ATATATAT others(16): Show |
A | 1 | a0001c0001t0007g0284 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1277+810_1277+832d others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755722 | |||||||
| chr8:53755722 | ATATATAT others(20): Show |
A | 1 | a0001c0001t0001g0265 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1277+806_1277+832d others(29): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755722 | |||||||
| chr8:53755723 | TATATATA others(8): Show |
T | 1 | a0001c0001t0001g0238 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1277+817_1277+831d others(17): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755723 | |||||||
| chr8:53755723 | TATATATA others(10): Show |
T | 1 | a0001c0001t0002g0259 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1277+815_1277+831d others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755723 | |||||||
| chr8:53755723 | TATATATA others(14): Show |
T | 2 | a0001c0001t0002g0127 a0001c0001t0002g0255 |
2 | HG02886.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.1277+811_1277+831d others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755723 | |||||||
| chr8:53755724 | ATATATAT others(14): Show |
A | 1 | a0001c0001t0001g0076 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1277+810_1277+830d others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755724 | |||||||
| chr8:53755725 | TATATATA others(10): Show |
T | 3 | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0236 |
3 | HG01074.hp1 HG01243.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1277+813_1277+829d others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755725 | |||||||
| chr8:53755725 | TATATATA others(12): Show |
T | 2 | a0001c0001t0001g0270 a0001c0001t0001g0281 |
2 | HG02896.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1277+811_1277+829d others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755725 | |||||||
| chr8:53755726 | ATATATAT others(12): Show |
A | 2 | a0001c0001t0001g0060 a0001c0001t0001g0278 |
2 | HG03239.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1277+810_1277+828d others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755726 | |||||||
| chr8:53755726 | ATATATAT others(13): Show |
A | 1 | a0001c0001t0001g0234 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1277+809_1277+828d others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755726 | |||||||
| chr8:53755726 | ATATATAT others(14): Show |
A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1277+808_1277+828d others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755726 | |||||||
| chr8:53755727 | TATATATA others(8): Show |
T | 1 | a0001c0001t0001g0218 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1277+813_1277+827d others(17): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755727 | |||||||
| chr8:53755727 | TATATATA others(10): Show |
T | 2 | a0001c0001t0001g0061 a0001c0001t0001g0074 |
2 | HG01358.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.1277+811_1277+827d others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755727 | |||||||
| chr8:53755728 | ATATATAT others(10): Show |
A | 6 | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0073 others(3): Show |
6 | HG02129.hp1 HG03834.hp2 NA18978.hp2 others(3): Show |
intron_variant | MODIFIER | c.1277+810_1277+826d others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755728 | |||||||
| chr8:53755730 | A | T | 1 | a0001c0001t0001g0245 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1277+825T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755730 | |||||||
| chr8:53755730 | ATATATAT others(10): Show |
A | 1 | a0001c0001t0001g0059 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1277+808_1277+824d others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755730 | |||||||
| chr8:53755730 | ATATATAT others(11): Show |
A | 1 | a0001c0001t0001g0056 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1277+807_1277+824d others(20): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755730 | |||||||
| chr8:53755730 | ATATATAT others(12): Show |
A | 1 | a0001c0001t0001g0057 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1277+806_1277+824d others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755730 | |||||||
| chr8:53755731 | TATATATA others(4): Show |
T | 2 | a0001c0001t0001g0183 a0001c0001t0002g0129 |
2 | NA18983.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1277+813_1277+823d others(13): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755731 | |||||||
| chr8:53755732 | ATATATAT others(6): Show |
A | 2 | a0001c0001t0001g0068 a0001c0001t0001g0250 |
2 | HG02004.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1277+810_1277+822d others(15): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755732 | |||||||
| chr8:53755732 | ATATATAT others(7): Show |
A | 1 | a0001c0001t0001g0047 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1277+809_1277+822d others(16): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755732 | |||||||
| chr8:53755732 | ATATATAT others(12): Show |
A | 1 | a0001c0001t0001g0280 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1277+804_1277+822d others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755732 | |||||||
| chr8:53755732 | ATATATAT others(14): Show |
A | 1 | a0001c0001t0001g0207 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1277+802_1277+822d others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755732 | |||||||
| chr8:53755733 | TATATATA | T | 4 | a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0233 others(1): Show |
4 | HG02572.hp1 NA18959.hp2 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277+815_1277+821d others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755733 | |||||||
| chr8:53755733 | TATATATA others(4): Show |
T | 2 | a0001c0001t0001g0224 a0001c0001t0001g0226 |
2 | HG01070.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.1277+811_1277+821d others(13): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755733 | |||||||
| chr8:53755734 | A | T | 1 | a0001c0001t0001g0028 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1277+821T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755734 | |||||||
| chr8:53755734 | ATATATAT others(5): Show |
A | 1 | a0001c0001t0001g0042 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1277+809_1277+820d others(14): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755734 | |||||||
| chr8:53755734 | ATATATAT others(12): Show |
A | 1 | a0001c0001t0001g0227 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1277+802_1277+820d others(21): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755734 | |||||||
| chr8:53755735 | TATATA | T | 3 | a0001c0001t0001g0038 a0001c0001t0001g0195 a0001c0001t0001g0240 |
3 | HG00741.hp1 NA18973.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.1277+815_1277+819d others(7): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755735 | |||||||
| chr8:53755735 | TATATATA | T | 4 | a0001c0001t0001g0035 a0001c0001t0001g0191 a0001c0001t0001g0197 others(1): Show |
4 | HG02132.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277+813_1277+819d others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755735 | |||||||
| chr8:53755736 | A | T | 2 | a0001c0001t0001g0028 a0001c0001t0001g0030 |
2 | HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1277+819T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755736 | |||||||
| chr8:53755736 | ATATATAT others(3): Show |
A | 1 | a0001c0001t0001g0051 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1277+809_1277+818d others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755736 | |||||||
| chr8:53755736 | ATATATAT others(5): Show |
A | 2 | a0001c0001t0001g0048 a0001c0001t0001g0184 |
2 | HG02523.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1277+807_1277+818d others(14): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755736 | |||||||
| chr8:53755736 | ATATATAT others(9): Show |
A | 1 | a0001c0006t0001g0279 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1277+803_1277+818d others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755736 | |||||||
| chr8:53755737 | TATATATA | T | 5 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0177 others(2): Show |
5 | HG00323.hp2 HG00741.hp2 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277+811_1277+817d others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755737 | |||||||
| chr8:53755738 | A | T | 4 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0175 others(1): Show |
4 | HG03098.hp2 NA18953.hp2 NA18963.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277+817T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755738 | |||||||
| chr8:53755738 | ATATATAT others(4): Show |
A | 2 | a0001c0001t0001g0023 a0001c0001t0001g0054 |
2 | HG02257.hp1 NA18961.hp2 |
intron_variant | MODIFIER | c.1277+806_1277+816d others(13): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755738 | |||||||
| chr8:53755738 | ATATATAT others(5): Show |
A | 1 | a0001c0001t0001g0052 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1277+805_1277+816d others(14): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755738 | |||||||
| chr8:53755740 | A | T | 14 | a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0030 others(11): Show |
14 | HG00673.hp2 HG01109.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1277+815T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755740 | |||||||
| chr8:53755742 | A | T | 51 | a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 others(48): Show |
51 | HG00438.hp2 HG00673.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.1277+813T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755742 | |||||||
| chr8:53755743 | T | A | 4 | a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0137 others(1): Show |
4 | HG00423.hp2 HG02027.hp2 HG02135.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277+812A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755743 | |||||||
| chr8:53755744 | A | T | 101 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(98): Show |
102 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(99): Show |
intron_variant | MODIFIER | c.1277+811T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755744 | |||||||
| chr8:53755745 | T | A | 23 | a0001c0001t0002g0013 a0001c0001t0002g0088 a0001c0001t0002g0091 others(20): Show |
23 | HG00423.hp2 HG00621.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.1277+810A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755745 | |||||||
| chr8:53755746 | T | A | 43 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0089 others(40): Show |
44 | HG00609.hp2 HG00621.hp2 HG01169.hp2 others(41): Show |
intron_variant | MODIFIER | c.1277+809A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755746 | |||||||
| chr8:53755747 | T | A | 10 | a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0101 others(7): Show |
10 | HG01358.hp1 HG01993.hp1 HG02155.hp2 others(7): Show |
intron_variant | MODIFIER | c.1277+808A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755747 | |||||||
| chr8:53755758 | T | A | 1 | a0001c0001t0002g0261 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1277+797A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755758 | |||||||
| chr8:53755781 | G | A | 1 | a0001c0001t0002g0088 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1277+774C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755781 | |||||||
| chr8:53755796 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1277+759G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755796 | |||||||
| chr8:53755859 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1277+696C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755859 | |||||||
| chr8:53755893 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1277+662C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755893 | |||||||
| chr8:53755898 | C | A | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1277+657G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755898 | |||||||
| chr8:53755959 | G | A | 3 | a0001c0001t0002g0118 a0001c0001t0002g0139 a0001c0001t0002g0157 |
3 | NA18942.hp1 NA18948.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.1277+596C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755959 | |||||||
| chr8:53755968 | G | A | 1 | a0001c0001t0002g0148 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1277+587C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53755968 | |||||||
| chr8:53756036 | C | T | 103 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(100): Show |
104 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.1277+519G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756036 | |||||||
| chr8:53756040 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+515T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756040 | |||||||
| chr8:53756069 | C | CT | 7 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show |
7 | HG01358.hp2 HG02572.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.1277+485dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756069 | |||||||
| chr8:53756069 | CT | C | 100 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0024 others(97): Show |
101 | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(98): Show |
intron_variant | MODIFIER | c.1277+485delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756069 | |||||||
| chr8:53756149 | C | A | 1 | a0001c0001t0002g0137 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1277+406G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756149 | |||||||
| chr8:53756155 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1277+400A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756155 | |||||||
| chr8:53756245 | C | CT | 31 | a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0040 others(28): Show |
31 | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(28): Show |
intron_variant | MODIFIER | c.1277+309dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756245 | |||||||
| chr8:53756245 | CT | C | 75 | a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0002g0002 others(72): Show |
76 | HG00323.hp2 HG00423.hp2 HG00609.hp2 others(73): Show |
intron_variant | MODIFIER | c.1277+309delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756245 | |||||||
| chr8:53756263 | T | C | 1 | a0001c0001t0002g0097 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1277+292A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756263 | |||||||
| chr8:53756404 | G | T | 1 | a0001c0001t0001g0227 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1277+151C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | 53756404 | |||||||
| chr8:53756729 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-73A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53756729 | |||||||
| chr8:53756796 | G | C | 4 | a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show |
4 | NA18963.hp2 NA19003.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.1176-140C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53756796 | |||||||
| chr8:53756850 | A | G | 1 | a0001c0001t0001g0049 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1176-194T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53756850 | |||||||
| chr8:53757384 | G | A | 1 | a0001c0001t0002g0165 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.1176-728C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53757384 | |||||||
| chr8:53757477 | C | T | 1 | a0001c0001t0002g0013 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.1176-821G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53757477 | |||||||
| chr8:53757512 | T | C | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1176-856A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53757512 | |||||||
| chr8:53757549 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1176-893G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53757549 | |||||||
| chr8:53757684 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-1028G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53757684 | |||||||
| chr8:53758057 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-1401C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758057 | |||||||
| chr8:53758294 | C | T | 2 | a0001c0001t0001g0030 a0001c0001t0001g0260 |
2 | HG03098.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1176-1638G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758294 | |||||||
| chr8:53758469 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1176-1813A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758469 | |||||||
| chr8:53758529 | A | C | 4 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(1): Show |
4 | HG03486.hp2 HG03540.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1176-1873T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758529 | |||||||
| chr8:53758586 | G | A | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1176-1930C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758586 | |||||||
| chr8:53758606 | T | G | 3 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 |
3 | HG02055.hp2 HG03579.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1176-1950A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758606 | |||||||
| chr8:53758973 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-2317A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53758973 | |||||||
| chr8:53759044 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-2388T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759044 | |||||||
| chr8:53759251 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-2595T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759251 | |||||||
| chr8:53759297 | G | A | 13 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(10): Show |
13 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.1176-2641C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759297 | |||||||
| chr8:53759389 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-2733G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759389 | |||||||
| chr8:53759451 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-2795G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759451 | |||||||
| chr8:53759504 | T | C | 1 | a0001c0001t0002g0131 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1176-2848A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759504 | |||||||
| chr8:53759571 | G | A | 1 | a0001c0001t0001g0180 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1176-2915C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759571 | |||||||
| chr8:53759780 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-3124T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759780 | |||||||
| chr8:53759787 | T | C | 1 | a0001c0001t0002g0115 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1176-3131A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759787 | |||||||
| chr8:53759831 | C | T | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1176-3175G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759831 | |||||||
| chr8:53759894 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-3238C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759894 | |||||||
| chr8:53759928 | T | C | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1176-3272A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53759928 | |||||||
| chr8:53760132 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-3476A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760132 | |||||||
| chr8:53760216 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-3560G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760216 | |||||||
| chr8:53760406 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-3750T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760406 | |||||||
| chr8:53760471 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-3815C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760471 | |||||||
| chr8:53760673 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-4017G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760673 | |||||||
| chr8:53760942 | A | G | 1 | a0001c0001t0001g0053 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1176-4286T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760942 | |||||||
| chr8:53760951 | G | A | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(81): Show |
85 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.1176-4295C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53760951 | |||||||
| chr8:53761065 | GGTGGCTC others(6): Show |
G | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1176-4422_1176-441 others(17): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761065 | |||||||
| chr8:53761115 | T | C | 5 | a0001c0001t0001g0012 a0001c0001t0003g0004 a0001c0001t0003g0005 others(2): Show |
5 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.1176-4459A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761115 | |||||||
| chr8:53761133 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-4477C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761133 | |||||||
| chr8:53761152 | C | T | 69 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(66): Show |
70 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(67): Show |
intron_variant | MODIFIER | c.1176-4496G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761152 | |||||||
| chr8:53761153 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-4497C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761153 | |||||||
| chr8:53761173 | A | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1176-4517T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761173 | |||||||
| chr8:53761285 | C | T | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1176-4629G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761285 | |||||||
| chr8:53761304 | T | C | 1 | a0001c0001t0001g0185 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1176-4648A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761304 | |||||||
| chr8:53761526 | T | G | 1 | a0001c0001t0001g0142 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1176-4870A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761526 | |||||||
| chr8:53761537 | G | C | 2 | a0001c0001t0001g0068 a0001c0001t0001g0078 |
2 | HG00280.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.1176-4881C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761537 | |||||||
| chr8:53761558 | T | C | 3 | a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 |
3 | HG00642.hp2 HG01358.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.1176-4902A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761558 | |||||||
| chr8:53761593 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-4937G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53761593 | |||||||
| chr8:53762053 | A | G | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1176-5397T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762053 | |||||||
| chr8:53762060 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-5404T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762060 | |||||||
| chr8:53762163 | T | C | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(81): Show |
85 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.1176-5507A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762163 | |||||||
| chr8:53762210 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-5554T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762210 | |||||||
| chr8:53762240 | AATACAAG others(4): Show |
A | 1 | a0001c0001t0002g0257 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1176-5595_1176-558 others(15): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762240 | |||||||
| chr8:53762262 | T | TAAA | 74 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(71): Show |
75 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.1176-5609_1176-560 others(7): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762262 | |||||||
| chr8:53762262 | TA | T | 6 | a0001c0001t0001g0168 a0001c0001t0001g0265 a0001c0001t0001g0272 others(3): Show |
6 | HG01891.hp1 HG02109.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.1176-5607delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762262 | |||||||
| chr8:53762372 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1176-5716A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762372 | |||||||
| chr8:53762431 | T | C | 1 | a0001c0001t0001g0226 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1176-5775A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762431 | |||||||
| chr8:53762601 | A | G | 3 | a0001c0001t0002g0088 a0001c0001t0002g0119 a0001c0001t0002g0140 |
3 | HG00621.hp1 HG02135.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.1176-5945T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762601 | |||||||
| chr8:53762797 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-6141C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762797 | |||||||
| chr8:53762804 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1176-6148A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762804 | |||||||
| chr8:53762846 | CCA | C | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(81): Show |
85 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.1176-6192_1176-619 others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53762846 | |||||||
| chr8:53763256 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+6362G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763256 | |||||||
| chr8:53763433 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+6185A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763433 | |||||||
| chr8:53763444 | G | C | 86 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(83): Show |
87 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(84): Show |
intron_variant | MODIFIER | c.1175+6174C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763444 | |||||||
| chr8:53763548 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+6070G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763548 | |||||||
| chr8:53763584 | T | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | HG02615.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1175+6034A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763584 | |||||||
| chr8:53763748 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+5870T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763748 | |||||||
| chr8:53763850 | T | C | 1 | a0001c0001t0002g0253 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1175+5768A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53763850 | |||||||
| chr8:53764053 | G | A | 1 | a0001c0001t0001g0028 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1175+5565C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764053 | |||||||
| chr8:53764202 | A | C | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1175+5416T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764202 | |||||||
| chr8:53764319 | G | A | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1175+5299C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764319 | |||||||
| chr8:53764547 | C | CA | 30 | a0001c0001t0001g0046 a0001c0001t0001g0190 a0001c0001t0001g0225 others(27): Show |
30 | HG00735.hp1 HG00735.hp2 HG01978.hp1 others(27): Show |
intron_variant | MODIFIER | c.1175+5070dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764547 | |||||||
| chr8:53764569 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+5049C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764569 | |||||||
| chr8:53764624 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4994G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764624 | |||||||
| chr8:53764756 | G | C | 1 | a0002c0005t0001g0204 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1175+4862C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53764756 | |||||||
| chr8:53765054 | A | G | 5 | a0001c0001t0001g0260 a0001c0001t0003g0004 a0001c0001t0003g0005 others(2): Show |
5 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.1175+4564T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765054 | |||||||
| chr8:53765079 | T | G | 1 | a0001c0001t0002g0159 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1175+4539A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765079 | |||||||
| chr8:53765169 | T | G | 1 | a0001c0001t0001g0243 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1175+4449A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765169 | |||||||
| chr8:53765205 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4413A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765205 | |||||||
| chr8:53765230 | C | T | 2 | a0001c0001t0001g0023 a0001c0001t0001g0043 |
2 | HG02109.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.1175+4388G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765230 | |||||||
| chr8:53765263 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4355C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765263 | |||||||
| chr8:53765275 | G | A | 1 | a0001c0001t0001g0188 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1175+4343C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765275 | |||||||
| chr8:53765332 | G | A | 1 | a0001c0001t0001g0277 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1175+4286C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765332 | |||||||
| chr8:53765351 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4267T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765351 | |||||||
| chr8:53765399 | C | CA | 9 | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0070 others(6): Show |
9 | HG01978.hp1 HG02132.hp1 HG02155.hp1 others(6): Show |
intron_variant | MODIFIER | c.1175+4218dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765399 | |||||||
| chr8:53765399 | CA | C | 8 | a0001c0001t0001g0041 a0001c0001t0001g0168 a0001c0001t0001g0228 others(5): Show |
8 | HG01257.hp1 HG02040.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.1175+4218delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765399 | |||||||
| chr8:53765451 | AACAAC | A | 8 | a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 others(5): Show |
8 | HG01109.hp2 HG03041.hp2 NA18963.hp2 others(5): Show |
intron_variant | MODIFIER | c.1175+4162_1175+416 others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765451 | |||||||
| chr8:53765451 | AACAACAC | A | 15 | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0190 others(12): Show |
15 | HG00735.hp1 HG01069.hp2 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.1175+4160_1175+416 others(11): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765451 | |||||||
| chr8:53765451 | AACAACAC others(2): Show |
A | 49 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0070 others(46): Show |
49 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(46): Show |
intron_variant | MODIFIER | c.1175+4158_1175+416 others(13): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765451 | |||||||
| chr8:53765451 | AACAACAC others(4): Show |
A | 1 | a0001c0001t0001g0224 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1175+4156_1175+416 others(15): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765451 | |||||||
| chr8:53765451 | AACAACAC others(6): Show |
A | 1 | a0001c0001t0001g0222 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.1175+4154_1175+416 others(17): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765451 | |||||||
| chr8:53765451 | AACAACAC others(8): Show |
A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4152_1175+416 others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765451 | |||||||
| chr8:53765452 | A | C | 1 | a0001c0001t0001g0181 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1175+4166T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765452 | |||||||
| chr8:53765453 | C | A | 1 | a0001c0001t0001g0181 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1175+4165G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765453 | |||||||
| chr8:53765454 | A | AAC | 8 | a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0249 others(5): Show |
8 | HG02132.hp2 HG02896.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1175+4162_1175+416 others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | A | AACAAC | 5 | a0001c0001t0001g0260 a0001c0001t0003g0004 a0001c0001t0003g0005 others(2): Show |
5 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.1175+4163_1175+416 others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | A | AACACACA others(5): Show |
1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1175+4152_1175+416 others(16): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | A | C | 1 | a0001c0001t0001g0181 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1175+4164T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AAC | A | 11 | a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0069 others(8): Show |
11 | HG01517.hp2 HG01981.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.1175+4162_1175+416 others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACAC | A | 18 | a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0043 others(15): Show |
18 | HG02109.hp2 HG02129.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.1175+4160_1175+416 others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACACAC | A | 28 | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0044 others(25): Show |
28 | HG00280.hp2 HG00438.hp1 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.1175+4158_1175+416 others(10): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACACACA others(1): Show |
A | 12 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0045 others(9): Show |
12 | HG00741.hp2 HG02027.hp1 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.1175+4156_1175+416 others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACACACA others(7): Show |
A | 4 | a0001c0001t0001g0012 a0001c0001t0002g0088 a0001c0001t0002g0145 others(1): Show |
4 | HG00621.hp1 HG02155.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1175+4150_1175+416 others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACACACA others(9): Show |
A | 67 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(64): Show |
68 | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(65): Show |
intron_variant | MODIFIER | c.1175+4148_1175+416 others(20): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACACACA others(11): Show |
A | 3 | a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 |
3 | HG02886.hp1 HG03209.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1175+4146_1175+416 others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765454 | AACACACA others(13): Show |
A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1175+4144_1175+416 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765454 | |||||||
| chr8:53765457 | ACAC | A | 11 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(8): Show |
11 | HG00741.hp1 HG01109.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.1175+4158_1175+416 others(7): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765457 | |||||||
| chr8:53765457 | ACACACAC others(8): Show |
A | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1175+4146_1175+416 others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765457 | |||||||
| chr8:53765462 | C | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1175+4156G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765462 | |||||||
| chr8:53765526 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4092T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765526 | |||||||
| chr8:53765581 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4037A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765581 | |||||||
| chr8:53765614 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+4004A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765614 | |||||||
| chr8:53765658 | C | T | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.1175+3960G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765658 | |||||||
| chr8:53765681 | T | C | 5 | a0001c0001t0001g0070 a0001c0001t0001g0178 a0001c0001t0001g0183 others(2): Show |
5 | HG02132.hp1 HG02155.hp1 NA18971.hp2 others(2): Show |
intron_variant | MODIFIER | c.1175+3937A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765681 | |||||||
| chr8:53765938 | G | A | 2 | a0001c0001t0001g0029 a0001c0001t0001g0042 |
2 | HG02257.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1175+3680C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765938 | |||||||
| chr8:53765982 | C | CCACACAA others(7): Show |
1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1175+3622_1175+363 others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53765982 | |||||||
| chr8:53766160 | G | A | 1 | a0001c0001t0001g0076 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1175+3458C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766160 | |||||||
| chr8:53766168 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1175+3450G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766168 | |||||||
| chr8:53766237 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1175+3381A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766237 | |||||||
| chr8:53766245 | C | T | 248 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(245): Show |
250 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(247): Show |
intron_variant | MODIFIER | c.1175+3373G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766245 | |||||||
| chr8:53766310 | C | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1175+3308G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766310 | |||||||
| chr8:53766390 | G | A | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1175+3228C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766390 | |||||||
| chr8:53766543 | G | A | 1 | a0001c0001t0001g0047 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1175+3075C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766543 | |||||||
| chr8:53766545 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+3073T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766545 | |||||||
| chr8:53766578 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+3040T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766578 | |||||||
| chr8:53766583 | A | G | 1 | a0001c0001t0001g0210 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1175+3035T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766583 | |||||||
| chr8:53766601 | T | C | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.1175+3017A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766601 | |||||||
| chr8:53766623 | G | T | 1 | a0001c0001t0002g0162 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1175+2995C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766623 | |||||||
| chr8:53766646 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2972C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766646 | |||||||
| chr8:53766678 | C | G | 1 | a0001c0001t0001g0234 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1175+2940G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766678 | |||||||
| chr8:53766687 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2931T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766687 | |||||||
| chr8:53766693 | C | A | 3 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 |
3 | HG02896.hp2 HG02897.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1175+2925G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766693 | |||||||
| chr8:53766721 | A | T | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1175+2897T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766721 | |||||||
| chr8:53766743 | G | A | 10 | a0001c0001t0001g0070 a0001c0001t0001g0178 a0001c0001t0001g0183 others(7): Show |
10 | HG00423.hp1 HG00673.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.1175+2875C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766743 | |||||||
| chr8:53766765 | G | A | 1 | a0001c0001t0001g0227 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1175+2853C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766765 | |||||||
| chr8:53766882 | T | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1175+2736A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766882 | |||||||
| chr8:53766904 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2714A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53766904 | |||||||
| chr8:53767121 | A | C | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1175+2497T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767121 | |||||||
| chr8:53767140 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2478T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767140 | |||||||
| chr8:53767176 | G | C | 1 | a0001c0001t0002g0139 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.1175+2442C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767176 | |||||||
| chr8:53767189 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2429T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767189 | |||||||
| chr8:53767219 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2399A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767219 | |||||||
| chr8:53767329 | G | C | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.1175+2289C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767329 | |||||||
| chr8:53767405 | A | G | 1 | a0001c0001t0002g0254 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1175+2213T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767405 | |||||||
| chr8:53767481 | A | T | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1175+2137T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767481 | |||||||
| chr8:53767549 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+2069A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767549 | |||||||
| chr8:53767677 | T | C | 104 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(101): Show |
105 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1175+1941A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767677 | |||||||
| chr8:53767753 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+1865T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767753 | |||||||
| chr8:53767835 | C | G | 1 | a0001c0001t0002g0016 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1175+1783G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767835 | |||||||
| chr8:53767902 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+1716G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767902 | |||||||
| chr8:53767958 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+1660G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53767958 | |||||||
| chr8:53768093 | G | A | 103 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(100): Show |
104 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.1175+1525C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768093 | |||||||
| chr8:53768288 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+1330G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768288 | |||||||
| chr8:53768346 | T | C | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1175+1272A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768346 | |||||||
| chr8:53768394 | T | A | 1 | a0001c0001t0001g0065 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1175+1224A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768394 | |||||||
| chr8:53768461 | T | G | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1175+1157A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768461 | |||||||
| chr8:53768471 | C | G | 1 | a0001c0001t0002g0155 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1175+1147G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768471 | |||||||
| chr8:53768665 | C | A | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1175+953G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768665 | |||||||
| chr8:53768755 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+863T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768755 | |||||||
| chr8:53768929 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1175+689A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53768929 | |||||||
| chr8:53769168 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+450G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53769168 | |||||||
| chr8:53769384 | A | G | 5 | a0001c0001t0001g0012 a0001c0001t0003g0004 a0001c0001t0003g0005 others(2): Show |
5 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.1175+234T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53769384 | |||||||
| chr8:53769529 | A | C | 1 | a0001c0001t0001g0200 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1175+89T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53769529 | |||||||
| chr8:53769555 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1175+63G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | 53769555 | |||||||
| chr8:53769866 | A | C | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(81): Show |
85 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.1050-123T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53769866 | |||||||
| chr8:53769901 | T | C | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1050-158A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53769901 | |||||||
| chr8:53769951 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1050-208G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53769951 | |||||||
| chr8:53769971 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1050-228G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53769971 | |||||||
| chr8:53770002 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1050-259A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770002 | |||||||
| chr8:53770255 | A | G | 1 | a0001c0001t0002g0164 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1050-512T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770255 | |||||||
| chr8:53770384 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1050-641A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770384 | |||||||
| chr8:53770684 | TTATGTAA others(4): Show |
T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1050-952_1050-942d others(13): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770684 | |||||||
| chr8:53770787 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1050-1044C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770787 | |||||||
| chr8:53770812 | T | G | 1 | a0001c0001t0002g0164 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1050-1069A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770812 | |||||||
| chr8:53770828 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1050-1085A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53770828 | |||||||
| chr8:53771093 | C | G | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1049+896G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771093 | |||||||
| chr8:53771094 | A | G | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1049+895T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771094 | |||||||
| chr8:53771096 | G | A | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1049+893C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771096 | |||||||
| chr8:53771271 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1049+718A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771271 | |||||||
| chr8:53771408 | A | G | 1 | a0001c0001t0002g0088 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1049+581T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771408 | |||||||
| chr8:53771437 | C | T | 1 | a0001c0001t0002g0259 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1049+552G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771437 | |||||||
| chr8:53771447 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1049+542A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771447 | |||||||
| chr8:53771560 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1049+429G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771560 | |||||||
| chr8:53771711 | C | T | 1 | a0001c0001t0002g0131 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1049+278G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771711 | |||||||
| chr8:53771834 | T | C | 2 | a0001c0001t0001g0205 a0001c0001t0001g0216 |
2 | HG00423.hp1 HG00673.hp1 |
intron_variant | MODIFIER | c.1049+155A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 10/13 | chr8 | 53771834 | |||||||
| chr8:53772219 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-52T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772219 | |||||||
| chr8:53772237 | A | T | 1 | a0001c0001t0001g0219 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.871-70T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772237 | |||||||
| chr8:53772269 | T | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.871-102A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772269 | |||||||
| chr8:53772594 | C | T | 1 | a0001c0001t0002g0131 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.871-427G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772594 | |||||||
| chr8:53772781 | G | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.871-614C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772781 | |||||||
| chr8:53772869 | T | C | 2 | a0001c0001t0001g0050 a0001c0001t0001g0229 |
2 | HG01258.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.871-702A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772869 | |||||||
| chr8:53772895 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-728T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772895 | |||||||
| chr8:53772903 | C | CA | 43 | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0028 others(40): Show |
43 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(40): Show |
intron_variant | MODIFIER | c.871-737dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772903 | |||||||
| chr8:53772903 | CAA | C | 7 | a0001c0001t0002g0117 a0001c0001t0002g0149 a0001c0001t0002g0164 others(4): Show |
7 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.871-738_871-737del others(2): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772903 | |||||||
| chr8:53772903 | CAAA | C | 72 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(69): Show |
73 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.871-739_871-737del others(3): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772903 | |||||||
| chr8:53772922 | AC | A | 22 | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 others(19): Show |
22 | HG01243.hp1 HG02055.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.871-756delG | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772922 | |||||||
| chr8:53772923 | C | A | 50 | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0029 others(47): Show |
51 | HG00673.hp2 HG00741.hp1 HG01109.hp1 others(48): Show |
intron_variant | MODIFIER | c.871-756G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772923 | |||||||
| chr8:53772941 | C | T | 2 | a0001c0001t0002g0092 a0001c0001t0002g0093 |
2 | NA18959.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.871-774G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772941 | |||||||
| chr8:53772964 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-797A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53772964 | |||||||
| chr8:53773208 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-1041G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773208 | |||||||
| chr8:53773282 | C | T | 2 | a0001c0001t0001g0222 a0001c0001t0001g0223 |
2 | NA18953.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.871-1115G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773282 | |||||||
| chr8:53773512 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-1345T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773512 | |||||||
| chr8:53773582 | A | G | 1 | a0001c0001t0001g0040 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.871-1415T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773582 | |||||||
| chr8:53773667 | A | G | 2 | a0001c0001t0002g0105 a0001c0001t0002g0107 |
2 | NA19003.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.871-1500T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773667 | |||||||
| chr8:53773794 | T | C | 1 | a0001c0001t0001g0047 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.871-1627A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773794 | |||||||
| chr8:53773819 | C | T | 1 | a0001c0001t0001g0058 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.871-1652G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773819 | |||||||
| chr8:53773950 | T | C | 1 | a0001c0001t0001g0271 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.871-1783A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53773950 | |||||||
| chr8:53774025 | T | A | 3 | a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 |
3 | HG00642.hp2 HG01358.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.871-1858A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774025 | |||||||
| chr8:53774035 | T | G | 1 | a0001c0001t0001g0055 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.871-1868A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774035 | |||||||
| chr8:53774127 | C | A | 79 | a0001c0001t0001g0012 a0001c0001t0001g0260 a0001c0001t0002g0002 others(76): Show |
80 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.871-1960G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774127 | |||||||
| chr8:53774146 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-1979G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774146 | |||||||
| chr8:53774164 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.871-1997G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774164 | |||||||
| chr8:53774490 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-2323A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774490 | |||||||
| chr8:53774491 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-2324T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774491 | |||||||
| chr8:53774825 | A | G | 2 | a0001c0001t0001g0250 a0001c0001t0001g0278 |
2 | HG03041.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.871-2658T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774825 | |||||||
| chr8:53774838 | A | C | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.871-2671T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774838 | |||||||
| chr8:53774841 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-2674T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53774841 | |||||||
| chr8:53775027 | G | A | 2 | a0001c0001t0001g0023 a0001c0001t0001g0043 |
2 | HG02109.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.871-2860C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775027 | |||||||
| chr8:53775029 | G | A | 1 | a0001c0001t0002g0159 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.871-2862C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775029 | |||||||
| chr8:53775034 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-2867A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775034 | |||||||
| chr8:53775055 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-2888C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775055 | |||||||
| chr8:53775071 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-2904G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775071 | |||||||
| chr8:53775183 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3016G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775183 | |||||||
| chr8:53775261 | A | G | 80 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(77): Show |
81 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.871-3094T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775261 | |||||||
| chr8:53775335 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3168G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775335 | |||||||
| chr8:53775340 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3173G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775340 | |||||||
| chr8:53775345 | A | G | 1 | a0001c0001t0001g0202 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.871-3178T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775345 | |||||||
| chr8:53775366 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3199C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775366 | |||||||
| chr8:53775416 | C | T | 4 | a0001c0001t0002g0088 a0001c0001t0002g0119 a0001c0001t0002g0123 others(1): Show |
4 | HG00621.hp1 HG02135.hp2 NA19012.hp1 others(1): Show |
intron_variant | MODIFIER | c.871-3249G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775416 | |||||||
| chr8:53775497 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3330G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775497 | |||||||
| chr8:53775596 | C | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.871-3429G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775596 | |||||||
| chr8:53775716 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3549C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775716 | |||||||
| chr8:53775736 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3569A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775736 | |||||||
| chr8:53775737 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3570A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775737 | |||||||
| chr8:53775778 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3611A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775778 | |||||||
| chr8:53775963 | A | G | 107 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(104): Show |
108 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(105): Show |
intron_variant | MODIFIER | c.871-3796T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53775963 | |||||||
| chr8:53776102 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3935C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776102 | |||||||
| chr8:53776130 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3963T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776130 | |||||||
| chr8:53776162 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-3995T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776162 | |||||||
| chr8:53776180 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-4013G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776180 | |||||||
| chr8:53776192 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-4025C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776192 | |||||||
| chr8:53776222 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-4055T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776222 | |||||||
| chr8:53776225 | A | T | 1 | a0001c0001t0001g0245 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.871-4058T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776225 | |||||||
| chr8:53776248 | G | A | 2 | a0001c0001t0001g0205 a0001c0001t0001g0216 |
2 | HG00423.hp1 HG00673.hp1 |
intron_variant | MODIFIER | c.871-4081C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776248 | |||||||
| chr8:53776417 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-4250T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776417 | |||||||
| chr8:53776449 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | HG02615.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.871-4282C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776449 | |||||||
| chr8:53776535 | G | A | 1 | a0001c0001t0002g0130 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.871-4368C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776535 | |||||||
| chr8:53776559 | C | T | 1 | a0001c0001t0002g0156 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.871-4392G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776559 | |||||||
| chr8:53776676 | C | A | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
107 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(104): Show |
intron_variant | MODIFIER | c.871-4509G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776676 | |||||||
| chr8:53776769 | A | G | 1 | a0001c0001t0002g0145 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.871-4602T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776769 | |||||||
| chr8:53776940 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-4773C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776940 | |||||||
| chr8:53776943 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-4776C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53776943 | |||||||
| chr8:53777182 | A | G | 1 | a0001c0001t0002g0091 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.871-5015T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777182 | |||||||
| chr8:53777268 | C | T | 2 | a0001c0001t0001g0068 a0001c0001t0001g0078 |
2 | HG00280.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.871-5101G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777268 | |||||||
| chr8:53777271 | C | T | 6 | a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0065 others(3): Show |
6 | HG02027.hp1 HG02129.hp1 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.871-5104G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777271 | |||||||
| chr8:53777347 | G | C | 3 | a0001c0001t0001g0026 a0001c0001t0001g0225 a0001c0001t0001g0226 |
3 | HG00735.hp2 HG01433.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.871-5180C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777347 | |||||||
| chr8:53777387 | C | G | 1 | a0003c0004t0002g0144 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.871-5220G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777387 | |||||||
| chr8:53777401 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-5234A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777401 | |||||||
| chr8:53777463 | C | A | 1 | a0001c0001t0001g0231 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.871-5296G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777463 | |||||||
| chr8:53777481 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.871-5314C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777481 | |||||||
| chr8:53777540 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-5373G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777540 | |||||||
| chr8:53777606 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.871-5439C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777606 | |||||||
| chr8:53777633 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-5466C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777633 | |||||||
| chr8:53777725 | C | A | 276 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(273): Show |
278 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(275): Show |
intron_variant | MODIFIER | c.871-5558G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777725 | |||||||
| chr8:53777914 | T | C | 1 | a0001c0001t0001g0209 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.871-5747A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53777914 | |||||||
| chr8:53778037 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-5870G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778037 | |||||||
| chr8:53778235 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-6068C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778235 | |||||||
| chr8:53778292 | T | C | 1 | a0001c0001t0001g0206 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.871-6125A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778292 | |||||||
| chr8:53778336 | G | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.871-6169C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778336 | |||||||
| chr8:53778475 | T | A | 1 | a0001c0001t0001g0055 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.871-6308A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778475 | |||||||
| chr8:53778815 | G | A | 6 | a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0273 others(3): Show |
6 | HG01891.hp1 HG02109.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.871-6648C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778815 | |||||||
| chr8:53778842 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-6675C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53778842 | |||||||
| chr8:53779007 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-6840C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779007 | |||||||
| chr8:53779009 | A | G | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.871-6842T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779009 | |||||||
| chr8:53779042 | T | G | 1 | a0001c0001t0001g0040 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.871-6875A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779042 | |||||||
| chr8:53779049 | A | G | 251 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(248): Show |
253 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(250): Show |
intron_variant | MODIFIER | c.871-6882T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779049 | |||||||
| chr8:53779222 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-7055C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779222 | |||||||
| chr8:53779298 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-7131G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779298 | |||||||
| chr8:53779530 | T | C | 1 | a0001c0001t0001g0188 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.871-7363A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779530 | |||||||
| chr8:53779533 | A | G | 1 | a0001c0001t0001g0030 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.871-7366T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779533 | |||||||
| chr8:53779770 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-7603G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53779770 | |||||||
| chr8:53780020 | G | A | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.871-7853C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780020 | |||||||
| chr8:53780107 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-7940G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780107 | |||||||
| chr8:53780158 | C | CA | 7 | a0001c0001t0001g0063 a0001c0001t0001g0187 a0001c0001t0001g0192 others(4): Show |
7 | HG00438.hp1 HG02572.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.871-7992dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780158 | |||||||
| chr8:53780332 | G | A | 1 | a0001c0001t0002g0130 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.871-8165C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780332 | |||||||
| chr8:53780409 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8242C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780409 | |||||||
| chr8:53780482 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8315G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780482 | |||||||
| chr8:53780541 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8374A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780541 | |||||||
| chr8:53780588 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8421G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780588 | |||||||
| chr8:53780624 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8457A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780624 | |||||||
| chr8:53780647 | A | C | 104 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(101): Show |
105 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.871-8480T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780647 | |||||||
| chr8:53780648 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8481C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780648 | |||||||
| chr8:53780686 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.871-8519G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780686 | |||||||
| chr8:53780875 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8708T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780875 | |||||||
| chr8:53780951 | C | T | 1 | a0003c0004t0002g0144 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.871-8784G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780951 | |||||||
| chr8:53780986 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8819T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53780986 | |||||||
| chr8:53781008 | C | A | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.871-8841G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781008 | |||||||
| chr8:53781097 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-8930T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781097 | |||||||
| chr8:53781150 | C | A | 1 | a0001c0001t0003g0004 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.871-8983G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781150 | |||||||
| chr8:53781236 | A | C | 1 | a0001c0001t0001g0214 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.871-9069T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781236 | |||||||
| chr8:53781258 | C | T | 3 | a0001c0001t0002g0122 a0001c0001t0004g0263 a0001c0001t0004g0264 |
3 | HG02027.hp2 HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9091G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781258 | |||||||
| chr8:53781277 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9110A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781277 | |||||||
| chr8:53781335 | T | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.871-9168A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781335 | |||||||
| chr8:53781344 | C | G | 1 | a0001c0001t0001g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.871-9177G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781344 | |||||||
| chr8:53781404 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9237G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781404 | |||||||
| chr8:53781469 | A | C | 1 | a0001c0001t0002g0015 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.871-9302T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781469 | |||||||
| chr8:53781508 | G | C | 1 | a0001c0001t0001g0073 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.871-9341C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781508 | |||||||
| chr8:53781550 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9383G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781550 | |||||||
| chr8:53781551 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9384T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781551 | |||||||
| chr8:53781683 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9516A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781683 | |||||||
| chr8:53781780 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.871-9613G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781780 | |||||||
| chr8:53781850 | T | C | 2 | a0001c0001t0002g0015 a0001c0001t0002g0016 |
2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.871-9683A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781850 | |||||||
| chr8:53781973 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9806T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53781973 | |||||||
| chr8:53782025 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9858T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782025 | |||||||
| chr8:53782114 | C | CT | 4 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(1): Show |
4 | HG03486.hp2 HG03540.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.871-9948dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782114 | |||||||
| chr8:53782131 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-9964G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782131 | |||||||
| chr8:53782149 | G | A | 3 | a0001c0001t0001g0260 a0001c0001t0004g0263 a0001c0001t0004g0264 |
3 | HG02572.hp2 HG03098.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.871-9982C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782149 | |||||||
| chr8:53782216 | C | T | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.871-10049G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782216 | |||||||
| chr8:53782252 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10085A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782252 | |||||||
| chr8:53782257 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10090T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782257 | |||||||
| chr8:53782321 | CT | C | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.871-10155delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782321 | |||||||
| chr8:53782322 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10155A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782322 | |||||||
| chr8:53782351 | C | T | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
107 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(104): Show |
intron_variant | MODIFIER | c.871-10184G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782351 | |||||||
| chr8:53782384 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.871-10217A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782384 | |||||||
| chr8:53782412 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10245T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782412 | |||||||
| chr8:53782448 | C | T | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.871-10281G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782448 | |||||||
| chr8:53782449 | A | G | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.871-10282T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782449 | |||||||
| chr8:53782485 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10318T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782485 | |||||||
| chr8:53782562 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10395A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782562 | |||||||
| chr8:53782648 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10481A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782648 | |||||||
| chr8:53782671 | T | G | 1 | a0001c0001t0001g0234 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.871-10504A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782671 | |||||||
| chr8:53782697 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10530C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782697 | |||||||
| chr8:53782758 | T | C | 1 | a0001c0001t0001g0062 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.871-10591A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782758 | |||||||
| chr8:53782813 | T | C | 1 | a0001c0001t0001g0081 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.871-10646A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782813 | |||||||
| chr8:53782842 | G | C | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.871-10675C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782842 | |||||||
| chr8:53782936 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.871-10769G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53782936 | |||||||
| chr8:53783155 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-10988C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783155 | |||||||
| chr8:53783271 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11104C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783271 | |||||||
| chr8:53783285 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11118G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783285 | |||||||
| chr8:53783286 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11119A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783286 | |||||||
| chr8:53783288 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11121C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783288 | |||||||
| chr8:53783328 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11161T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783328 | |||||||
| chr8:53783379 | G | A | 11 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(8): Show |
11 | HG02055.hp1 HG02572.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.871-11212C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783379 | |||||||
| chr8:53783398 | T | A | 1 | a0001c0001t0001g0232 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.871-11231A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783398 | |||||||
| chr8:53783400 | A | T | 1 | a0001c0001t0001g0232 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.871-11233T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783400 | |||||||
| chr8:53783425 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11258A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783425 | |||||||
| chr8:53783431 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11264G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783431 | |||||||
| chr8:53783488 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11321C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783488 | |||||||
| chr8:53783505 | T | C | 2 | a0001c0001t0001g0182 a0001c0002t0001g0170 |
2 | HG01952.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.871-11338A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783505 | |||||||
| chr8:53783521 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11354G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783521 | |||||||
| chr8:53783592 | C | T | 2 | a0001c0001t0001g0201 a0001c0001t0001g0239 |
2 | NA18948.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.871-11425G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783592 | |||||||
| chr8:53783601 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.871-11434A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783601 | |||||||
| chr8:53783689 | A | G | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.871-11522T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783689 | |||||||
| chr8:53783754 | T | C | 1 | a0001c0001t0001g0069 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.871-11587A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53783754 | |||||||
| chr8:53784008 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11639T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784008 | |||||||
| chr8:53784009 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11638C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784009 | |||||||
| chr8:53784018 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11629C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784018 | |||||||
| chr8:53784115 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11532T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784115 | |||||||
| chr8:53784136 | T | C | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.870+11511A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784136 | |||||||
| chr8:53784141 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11506A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784141 | |||||||
| chr8:53784219 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11428T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784219 | |||||||
| chr8:53784229 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11418T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784229 | |||||||
| chr8:53784302 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11345A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784302 | |||||||
| chr8:53784314 | T | A | 1 | a0001c0001t0001g0168 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.870+11333A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784314 | |||||||
| chr8:53784342 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11305T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784342 | |||||||
| chr8:53784382 | T | C | 2 | a0001c0001t0001g0065 a0001c0001t0001g0184 |
2 | HG02129.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.870+11265A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784382 | |||||||
| chr8:53784384 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11263C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784384 | |||||||
| chr8:53784599 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+11048G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784599 | |||||||
| chr8:53784637 | G | T | 1 | a0001c0001t0001g0066 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.870+11010C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784637 | |||||||
| chr8:53784677 | G | A | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.870+10970C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784677 | |||||||
| chr8:53784678 | G | C | 4 | a0001c0001t0001g0063 a0001c0001t0001g0207 a0001c0001t0004g0263 others(1): Show |
4 | HG00438.hp1 HG02083.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.870+10969C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784678 | |||||||
| chr8:53784690 | G | C | 250 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(247): Show |
252 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(249): Show |
intron_variant | MODIFIER | c.870+10957C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784690 | |||||||
| chr8:53784693 | G | T | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.870+10954C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784693 | |||||||
| chr8:53784735 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10912T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784735 | |||||||
| chr8:53784771 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10876A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784771 | |||||||
| chr8:53784789 | G | A | 5 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG02895.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.870+10858C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784789 | |||||||
| chr8:53784793 | A | C | 5 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG02895.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.870+10854T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784793 | |||||||
| chr8:53784841 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.870+10806A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784841 | |||||||
| chr8:53784907 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10740T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784907 | |||||||
| chr8:53784936 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10711C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784936 | |||||||
| chr8:53784954 | T | C | 1 | a0001c0001t0001g0178 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.870+10693A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784954 | |||||||
| chr8:53784994 | G | T | 1 | a0001c0001t0001g0244 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.870+10653C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53784994 | |||||||
| chr8:53785095 | A | G | 1 | a0001c0001t0002g0103 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.870+10552T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785095 | |||||||
| chr8:53785125 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10522G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785125 | |||||||
| chr8:53785157 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.870+10490G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785157 | |||||||
| chr8:53785185 | C | T | 247 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(244): Show |
249 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(246): Show |
intron_variant | MODIFIER | c.870+10462G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785185 | |||||||
| chr8:53785200 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10447G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785200 | |||||||
| chr8:53785206 | G | A | 30 | a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0141 others(27): Show |
31 | HG00438.hp2 HG00673.hp2 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.870+10441C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785206 | |||||||
| chr8:53785360 | A | G | 2 | a0001c0001t0001g0193 a0001c0001t0006g0198 |
2 | HG01169.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.870+10287T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785360 | |||||||
| chr8:53785441 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10206T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785441 | |||||||
| chr8:53785480 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10167A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785480 | |||||||
| chr8:53785569 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.870+10078G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785569 | |||||||
| chr8:53785597 | G | A | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.870+10050C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785597 | |||||||
| chr8:53785631 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10016A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785631 | |||||||
| chr8:53785633 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+10014C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785633 | |||||||
| chr8:53785671 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9976T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785671 | |||||||
| chr8:53785924 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9723A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53785924 | |||||||
| chr8:53786004 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9643A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786004 | |||||||
| chr8:53786034 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9613C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786034 | |||||||
| chr8:53786127 | C | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.870+9520G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786127 | |||||||
| chr8:53786162 | T | A | 1 | a0001c0001t0001g0246 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.870+9485A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786162 | |||||||
| chr8:53786189 | G | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.870+9458C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786189 | |||||||
| chr8:53786266 | G | A | 1 | a0001c0001t0002g0130 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.870+9381C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786266 | |||||||
| chr8:53786305 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9342A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786305 | |||||||
| chr8:53786310 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9337G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786310 | |||||||
| chr8:53786430 | G | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.870+9217C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786430 | |||||||
| chr8:53786477 | TGCAGTTC others(9): Show |
T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9154_870+9169d others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786477 | |||||||
| chr8:53786496 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.870+9151C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786496 | |||||||
| chr8:53786536 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9111G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786536 | |||||||
| chr8:53786537 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9110T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786537 | |||||||
| chr8:53786545 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+9102A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786545 | |||||||
| chr8:53786651 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8996C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786651 | |||||||
| chr8:53786652 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8995T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786652 | |||||||
| chr8:53786670 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8977G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786670 | |||||||
| chr8:53786737 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8910T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786737 | |||||||
| chr8:53786743 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8904T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786743 | |||||||
| chr8:53786799 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8848A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786799 | |||||||
| chr8:53786853 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8794A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786853 | |||||||
| chr8:53786938 | T | A | 1 | a0001c0001t0002g0156 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.870+8709A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786938 | |||||||
| chr8:53786939 | T | A | 1 | a0001c0001t0002g0156 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.870+8708A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786939 | |||||||
| chr8:53786967 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.870+8680A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786967 | |||||||
| chr8:53786990 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8657G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53786990 | |||||||
| chr8:53787003 | A | G | 3 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0235 |
3 | HG00642.hp1 HG01993.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.870+8644T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787003 | |||||||
| chr8:53787026 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8621A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787026 | |||||||
| chr8:53787062 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8585G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787062 | |||||||
| chr8:53787086 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8561G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787086 | |||||||
| chr8:53787375 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+8272T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787375 | |||||||
| chr8:53787473 | T | C | 1 | a0001c0001t0001g0200 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.870+8174A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787473 | |||||||
| chr8:53787506 | A | G | 1 | a0001c0001t0002g0130 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.870+8141T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53787506 | |||||||
| chr8:53788240 | A | G | 1 | a0001c0001t0001g0178 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.870+7407T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788240 | |||||||
| chr8:53788280 | T | C | 1 | a0001c0001t0001g0235 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.870+7367A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788280 | |||||||
| chr8:53788336 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+7311A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788336 | |||||||
| chr8:53788342 | G | T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0042 |
2 | HG02257.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.870+7305C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788342 | |||||||
| chr8:53788375 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+7272C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788375 | |||||||
| chr8:53788391 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.870+7256C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788391 | |||||||
| chr8:53788521 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+7126A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788521 | |||||||
| chr8:53788527 | A | T | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.870+7120T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788527 | |||||||
| chr8:53788606 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+7041T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788606 | |||||||
| chr8:53788621 | T | G | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.870+7026A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788621 | |||||||
| chr8:53788740 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+6907G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788740 | |||||||
| chr8:53788922 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+6725G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53788922 | |||||||
| chr8:53789151 | A | G | 1 | a0001c0001t0001g0248 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.870+6496T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789151 | |||||||
| chr8:53789240 | T | C | 1 | a0001c0001t0001g0247 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.870+6407A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789240 | |||||||
| chr8:53789251 | C | T | 160 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(157): Show |
162 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(159): Show |
intron_variant | MODIFIER | c.870+6396G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789251 | |||||||
| chr8:53789390 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.870+6257C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789390 | |||||||
| chr8:53789451 | C | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.870+6196G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789451 | |||||||
| chr8:53789540 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+6107A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789540 | |||||||
| chr8:53789569 | T | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.870+6078A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789569 | |||||||
| chr8:53789611 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.870+6036G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789611 | |||||||
| chr8:53789675 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.870+5972G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789675 | |||||||
| chr8:53789676 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.870+5971C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789676 | |||||||
| chr8:53789735 | AT | A | 13 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(10): Show |
13 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.870+5911delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789735 | |||||||
| chr8:53789817 | C | T | 1 | a0001c0001t0002g0143 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.870+5830G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789817 | |||||||
| chr8:53789888 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+5759A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53789888 | |||||||
| chr8:53790025 | C | T | 13 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(10): Show |
13 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.870+5622G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790025 | |||||||
| chr8:53790223 | C | T | 1 | a0001c0001t0002g0125 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.870+5424G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790223 | |||||||
| chr8:53790275 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+5372A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790275 | |||||||
| chr8:53790288 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+5359T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790288 | |||||||
| chr8:53790423 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.870+5224G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790423 | |||||||
| chr8:53790424 | G | A | 1 | a0001c0001t0001g0234 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.870+5223C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790424 | |||||||
| chr8:53790572 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+5075T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790572 | |||||||
| chr8:53790573 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+5074G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790573 | |||||||
| chr8:53790589 | A | G | 1 | a0001c0001t0001g0209 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.870+5058T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53790589 | |||||||
| chr8:53791063 | T | TA | 78 | a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0007 others(75): Show |
79 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.870+4583dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791063 | |||||||
| chr8:53791208 | C | T | 113 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(110): Show |
114 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(111): Show |
intron_variant | MODIFIER | c.870+4439G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791208 | |||||||
| chr8:53791322 | T | A | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.870+4325A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791322 | |||||||
| chr8:53791390 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.870+4257A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791390 | |||||||
| chr8:53791700 | G | A | 1 | a0001c0001t0002g0115 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.870+3947C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791700 | |||||||
| chr8:53791728 | C | T | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.870+3919G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791728 | |||||||
| chr8:53791729 | C | G | 73 | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0026 others(70): Show |
73 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
intron_variant | MODIFIER | c.870+3918G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791729 | |||||||
| chr8:53791933 | T | C | 14 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show |
14 | HG00741.hp2 HG01192.hp2 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.870+3714A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791933 | |||||||
| chr8:53791993 | C | A | 160 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(157): Show |
162 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(159): Show |
intron_variant | MODIFIER | c.870+3654G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53791993 | |||||||
| chr8:53792215 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.870+3432G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792215 | |||||||
| chr8:53792348 | G | A | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.870+3299C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792348 | |||||||
| chr8:53792533 | T | G | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.870+3114A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792533 | |||||||
| chr8:53792555 | G | A | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.870+3092C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792555 | |||||||
| chr8:53792706 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2941G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792706 | |||||||
| chr8:53792821 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2826T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792821 | |||||||
| chr8:53792891 | G | C | 2 | a0001c0001t0002g0255 a0001c0001t0002g0256 |
2 | HG02886.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.870+2756C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792891 | |||||||
| chr8:53792957 | C | T | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.870+2690G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792957 | |||||||
| chr8:53792990 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2657A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53792990 | |||||||
| chr8:53793027 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.870+2620A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793027 | |||||||
| chr8:53793068 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2579A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793068 | |||||||
| chr8:53793106 | C | A | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
107 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(104): Show |
intron_variant | MODIFIER | c.870+2541G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793106 | |||||||
| chr8:53793186 | G | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.870+2461C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793186 | |||||||
| chr8:53793219 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2428T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793219 | |||||||
| chr8:53793259 | T | C | 3 | a0001c0001t0002g0118 a0001c0001t0002g0139 a0001c0001t0002g0157 |
3 | NA18942.hp1 NA18948.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.870+2388A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793259 | |||||||
| chr8:53793473 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2174A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793473 | |||||||
| chr8:53793528 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+2119G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793528 | |||||||
| chr8:53793735 | T | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.870+1912A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793735 | |||||||
| chr8:53793736 | C | T | 1 | a0001c0001t0002g0015 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.870+1911G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793736 | |||||||
| chr8:53793835 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+1812A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793835 | |||||||
| chr8:53793887 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+1760A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793887 | |||||||
| chr8:53793892 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+1755A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53793892 | |||||||
| chr8:53794115 | C | T | 1 | a0001c0001t0002g0154 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.870+1532G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794115 | |||||||
| chr8:53794334 | T | C | 3 | a0001c0001t0002g0118 a0001c0001t0002g0139 a0001c0001t0002g0157 |
3 | NA18942.hp1 NA18948.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.870+1313A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794334 | |||||||
| chr8:53794384 | G | T | 1 | a0001c0001t0002g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.870+1263C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794384 | |||||||
| chr8:53794514 | T | G | 2 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
2 | HG02083.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.870+1133A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794514 | |||||||
| chr8:53794517 | C | T | 1 | a0001c0001t0002g0089 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.870+1130G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794517 | |||||||
| chr8:53794545 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+1102A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794545 | |||||||
| chr8:53794554 | C | T | 1 | a0003c0004t0002g0144 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.870+1093G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794554 | |||||||
| chr8:53794585 | C | T | 1 | a0001c0001t0002g0117 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.870+1062G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794585 | |||||||
| chr8:53794618 | G | A | 1 | a0001c0001t0001g0128 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.870+1029C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794618 | |||||||
| chr8:53794731 | T | A | 2 | a0001c0001t0001g0250 a0001c0001t0001g0278 |
2 | HG03041.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.870+916A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53794731 | |||||||
| chr8:53795006 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+641G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53795006 | |||||||
| chr8:53795042 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+605A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53795042 | |||||||
| chr8:53795085 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.870+562C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 9/13 | chr8 | 53795085 | |||||||
| chr8:53796089 | G | C | 1 | a0001c0001t0001g0230 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.678-250C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796089 | |||||||
| chr8:53796187 | A | G | 13 | a0001c0001t0001g0026 a0001c0001t0001g0180 a0001c0001t0001g0185 others(10): Show |
13 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.678-348T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796187 | |||||||
| chr8:53796236 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-397T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796236 | |||||||
| chr8:53796239 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.678-400C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796239 | |||||||
| chr8:53796268 | T | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.678-429A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796268 | |||||||
| chr8:53796275 | T | C | 4 | a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show |
4 | HG01074.hp1 HG02273.hp1 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.678-436A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796275 | |||||||
| chr8:53796513 | TA | T | 105 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(102): Show |
106 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(103): Show |
intron_variant | MODIFIER | c.678-675delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796513 | |||||||
| chr8:53796628 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-789A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796628 | |||||||
| chr8:53796635 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-796A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796635 | |||||||
| chr8:53796660 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-821T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796660 | |||||||
| chr8:53796691 | ATT | A | 3 | a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 |
3 | HG00642.hp2 HG01358.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.678-854_678-853del others(2): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796691 | |||||||
| chr8:53796766 | G | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.678-927C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796766 | |||||||
| chr8:53796788 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-949T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796788 | |||||||
| chr8:53796829 | C | A | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.678-990G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796829 | |||||||
| chr8:53796880 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1041A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796880 | |||||||
| chr8:53796966 | A | G | 1 | a0001c0001t0001g0213 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.678-1127T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53796966 | |||||||
| chr8:53797196 | G | A | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.678-1357C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797196 | |||||||
| chr8:53797245 | G | A | 5 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG02895.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.678-1406C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797245 | |||||||
| chr8:53797245 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1406C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797245 | |||||||
| chr8:53797370 | G | C | 77 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0002g0002 others(74): Show |
78 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.678-1531C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797370 | |||||||
| chr8:53797420 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1581T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797420 | |||||||
| chr8:53797424 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1585A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797424 | |||||||
| chr8:53797425 | G | A | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
107 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(104): Show |
intron_variant | MODIFIER | c.678-1586C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797425 | |||||||
| chr8:53797452 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.678-1613G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797452 | |||||||
| chr8:53797466 | T | C | 1 | a0001c0001t0002g0161 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.678-1627A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797466 | |||||||
| chr8:53797628 | A | C | 110 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(107): Show |
111 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(108): Show |
intron_variant | MODIFIER | c.678-1789T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797628 | |||||||
| chr8:53797661 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1822T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797661 | |||||||
| chr8:53797671 | T | C | 80 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(77): Show |
81 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.678-1832A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797671 | |||||||
| chr8:53797686 | A | AT | 6 | a0001c0001t0001g0009 a0001c0001t0001g0266 a0001c0001t0001g0271 others(3): Show |
6 | HG01192.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.678-1848dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797686 | |||||||
| chr8:53797700 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1861T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797700 | |||||||
| chr8:53797809 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-1970T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797809 | |||||||
| chr8:53797944 | G | A | 1 | a0001c0001t0001g0248 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.678-2105C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53797944 | |||||||
| chr8:53798179 | C | G | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.678-2340G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798179 | |||||||
| chr8:53798182 | T | C | 82 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(79): Show |
83 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(80): Show |
intron_variant | MODIFIER | c.678-2343A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798182 | |||||||
| chr8:53798222 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-2383A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798222 | |||||||
| chr8:53798254 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.678-2415C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798254 | |||||||
| chr8:53798387 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-2548T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798387 | |||||||
| chr8:53798437 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-2598A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798437 | |||||||
| chr8:53798556 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.678-2717A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798556 | |||||||
| chr8:53798610 | A | AAC | 87 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 others(84): Show |
87 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(84): Show |
intron_variant | MODIFIER | c.678-2773_678-2772d others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798610 | |||||||
| chr8:53798610 | A | AACAC | 5 | a0001c0001t0001g0224 a0001c0001t0002g0150 a0001c0001t0002g0151 others(2): Show |
5 | HG01070.hp2 NA18944.hp1 NA18963.hp1 others(2): Show |
intron_variant | MODIFIER | c.678-2775_678-2772d others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798610 | |||||||
| chr8:53798610 | A | AACACAC | 65 | a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0007 others(62): Show |
66 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(63): Show |
intron_variant | MODIFIER | c.678-2777_678-2772d others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798610 | |||||||
| chr8:53798610 | A | AACACACA others(1): Show |
7 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 others(4): Show |
7 | HG02818.hp2 HG02965.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.678-2779_678-2772d others(10): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798610 | |||||||
| chr8:53798610 | A | AACACACA others(3): Show |
1 | a0001c0001t0002g0123 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.678-2781_678-2772d others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798610 | |||||||
| chr8:53798610 | AAC | A | 35 | a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0171 others(32): Show |
35 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.678-2773_678-2772d others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798610 | |||||||
| chr8:53798782 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-2943A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798782 | |||||||
| chr8:53798802 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.678-2963A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798802 | |||||||
| chr8:53798873 | T | C | 3 | a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0006g0198 |
3 | HG00323.hp2 HG01169.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.677+2926A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798873 | |||||||
| chr8:53798897 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+2902T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798897 | |||||||
| chr8:53798973 | G | C | 13 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(10): Show |
14 | HG00438.hp2 HG00673.hp2 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.677+2826C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798973 | |||||||
| chr8:53798996 | G | T | 1 | a0001c0001t0001g0194 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.677+2803C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53798996 | |||||||
| chr8:53799086 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+2713T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799086 | |||||||
| chr8:53799524 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+2275C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799524 | |||||||
| chr8:53799601 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+2198A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799601 | |||||||
| chr8:53799603 | T | C | 3 | a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 |
3 | NA18999.hp1 NA19006.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.677+2196A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799603 | |||||||
| chr8:53799707 | T | G | 1 | a0001c0001t0002g0140 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.677+2092A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799707 | |||||||
| chr8:53799812 | T | C | 1 | a0001c0001t0001g0044 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.677+1987A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799812 | |||||||
| chr8:53799895 | T | G | 1 | a0001c0001t0002g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.677+1904A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53799895 | |||||||
| chr8:53800326 | T | A | 2 | a0001c0001t0002g0162 a0001c0001t0002g0163 |
2 | HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.677+1473A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800326 | |||||||
| chr8:53800398 | C | G | 1 | a0001c0001t0004g0264 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.677+1401G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800398 | |||||||
| chr8:53800466 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+1333A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800466 | |||||||
| chr8:53800545 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+1254G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800545 | |||||||
| chr8:53800598 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+1201T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800598 | |||||||
| chr8:53800669 | A | G | 1 | a0001c0001t0001g0028 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.677+1130T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800669 | |||||||
| chr8:53800677 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+1122A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800677 | |||||||
| chr8:53800823 | C | A | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.677+976G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800823 | |||||||
| chr8:53800824 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0055 |
2 | NA18939.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.677+975G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800824 | |||||||
| chr8:53800920 | G | C | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.677+879C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53800920 | |||||||
| chr8:53801069 | T | C | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.677+730A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801069 | |||||||
| chr8:53801145 | G | T | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.677+654C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801145 | |||||||
| chr8:53801216 | GTAGATTT others(2): Show |
G | 24 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(21): Show |
24 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show |
intron_variant | MODIFIER | c.677+574_677+582del others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801216 | |||||||
| chr8:53801520 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+279G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801520 | |||||||
| chr8:53801580 | G | A | 1 | a0001c0001t0007g0284 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.677+219C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801580 | |||||||
| chr8:53801612 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+187T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801612 | |||||||
| chr8:53801705 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.677+94T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | 53801705 | |||||||
| chr8:53801932 | A | C | 1 | a0001c0001t0002g0112 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.580-36T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53801932 | |||||||
| chr8:53801979 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-83T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53801979 | |||||||
| chr8:53802143 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0024 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.580-247G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802143 | |||||||
| chr8:53802144 | G | A | 77 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0002g0002 others(74): Show |
78 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.580-248C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802144 | |||||||
| chr8:53802152 | A | G | 8 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.580-256T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802152 | |||||||
| chr8:53802278 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-382A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802278 | |||||||
| chr8:53802294 | A | G | 2 | a0001c0001t0002g0145 a0003c0004t0002g0144 |
2 | HG03669.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.580-398T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802294 | |||||||
| chr8:53802382 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-486C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802382 | |||||||
| chr8:53802456 | T | C | 78 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(75): Show |
79 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.580-560A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802456 | |||||||
| chr8:53802516 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.580-620G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802516 | |||||||
| chr8:53802550 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-654T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802550 | |||||||
| chr8:53802588 | C | T | 1 | a0001c0001t0001g0241 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.580-692G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802588 | |||||||
| chr8:53802589 | G | A | 1 | a0001c0001t0001g0011 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.580-693C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802589 | |||||||
| chr8:53802661 | A | G | 2 | a0001c0001t0002g0017 a0001c0001t0002g0018 |
2 | HG02809.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.580-765T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802661 | |||||||
| chr8:53802661 | A | T | 1 | a0001c0001t0002g0255 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.580-765T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802661 | |||||||
| chr8:53802669 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-773T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802669 | |||||||
| chr8:53802901 | T | C | 102 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(99): Show |
103 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(100): Show |
intron_variant | MODIFIER | c.580-1005A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53802901 | |||||||
| chr8:53803166 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-1270T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803166 | |||||||
| chr8:53803320 | G | A | 1 | a0001c0001t0001g0188 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.580-1424C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803320 | |||||||
| chr8:53803353 | C | CAGA | 3 | a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 |
3 | HG02886.hp1 HG03209.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.580-1460_580-1458d others(5): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803353 | |||||||
| chr8:53803413 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-1517G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803413 | |||||||
| chr8:53803432 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-1536G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803432 | |||||||
| chr8:53803517 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-1621C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803517 | |||||||
| chr8:53803843 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-1947G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803843 | |||||||
| chr8:53803902 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-2006C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53803902 | |||||||
| chr8:53804301 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-2405G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53804301 | |||||||
| chr8:53804403 | A | C | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.580-2507T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53804403 | |||||||
| chr8:53804500 | T | C | 1 | a0001c0001t0001g0175 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.580-2604A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53804500 | |||||||
| chr8:53804711 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-2815C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53804711 | |||||||
| chr8:53804771 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-2875T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53804771 | |||||||
| chr8:53804823 | G | A | 1 | a0001c0001t0002g0154 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.580-2927C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53804823 | |||||||
| chr8:53805043 | T | G | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0242 others(103): Show |
107 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(104): Show |
intron_variant | MODIFIER | c.580-3147A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805043 | |||||||
| chr8:53805052 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3156G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805052 | |||||||
| chr8:53805081 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3185A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805081 | |||||||
| chr8:53805208 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3312T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805208 | |||||||
| chr8:53805212 | G | A | 4 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.580-3316C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805212 | |||||||
| chr8:53805263 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3367A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805263 | |||||||
| chr8:53805285 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3389T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805285 | |||||||
| chr8:53805306 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3410T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805306 | |||||||
| chr8:53805462 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3566A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805462 | |||||||
| chr8:53805499 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-3603A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805499 | |||||||
| chr8:53805857 | T | C | 1 | a0001c0001t0002g0163 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.580-3961A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805857 | |||||||
| chr8:53805902 | T | C | 1 | a0001c0001t0002g0115 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.580-4006A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53805902 | |||||||
| chr8:53806080 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-4184A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806080 | |||||||
| chr8:53806138 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-4242T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806138 | |||||||
| chr8:53806145 | A | G | 113 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(110): Show |
114 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(111): Show |
intron_variant | MODIFIER | c.580-4249T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806145 | |||||||
| chr8:53806149 | C | A | 3 | a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0085 |
3 | HG00323.hp1 HG01517.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.580-4253G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806149 | |||||||
| chr8:53806171 | A | G | 2 | a0001c0001t0001g0265 a0001c0001t0001g0275 |
2 | HG02280.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.580-4275T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806171 | |||||||
| chr8:53806197 | C | T | 2 | a0001c0001t0001g0189 a0001c0001t0001g0190 |
2 | HG00735.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.580-4301G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806197 | |||||||
| chr8:53806223 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-4327C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806223 | |||||||
| chr8:53806258 | T | TA | 10 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(7): Show |
10 | HG02572.hp2 HG03098.hp1 NA18942.hp2 others(7): Show |
intron_variant | MODIFIER | c.580-4363dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806258 | |||||||
| chr8:53806271 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-4375A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806271 | |||||||
| chr8:53806329 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.580-4433A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806329 | |||||||
| chr8:53806726 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+4438T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806726 | |||||||
| chr8:53806743 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+4421T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806743 | |||||||
| chr8:53806886 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.579+4278A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53806886 | |||||||
| chr8:53807227 | C | CAAAGCCA others(8): Show |
2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+3936_579+3937i others(17): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53807227 | |||||||
| chr8:53807338 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+3826C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53807338 | |||||||
| chr8:53807394 | G | A | 78 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0260 others(75): Show |
79 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.579+3770C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53807394 | |||||||
| chr8:53807402 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+3762G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53807402 | |||||||
| chr8:53807688 | G | T | 1 | a0001c0001t0001g0012 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.579+3476C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53807688 | |||||||
| chr8:53807932 | C | T | 1 | a0001c0001t0002g0107 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.579+3232G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53807932 | |||||||
| chr8:53808005 | A | T | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.579+3159T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808005 | |||||||
| chr8:53808109 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.579+3055C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808109 | |||||||
| chr8:53808198 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2966A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808198 | |||||||
| chr8:53808260 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2904T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808260 | |||||||
| chr8:53808308 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2856C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808308 | |||||||
| chr8:53808523 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2641A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808523 | |||||||
| chr8:53808531 | G | C | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.579+2633C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808531 | |||||||
| chr8:53808677 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2487T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808677 | |||||||
| chr8:53808689 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2475A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808689 | |||||||
| chr8:53808755 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2409G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808755 | |||||||
| chr8:53808800 | C | CA | 9 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0048 others(6): Show |
9 | HG02027.hp1 HG02280.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.579+2363dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808800 | |||||||
| chr8:53808825 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2339C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808825 | |||||||
| chr8:53808944 | G | A | 1 | a0001c0001t0002g0088 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.579+2220C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808944 | |||||||
| chr8:53808948 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2216G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53808948 | |||||||
| chr8:53809013 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+2151C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809013 | |||||||
| chr8:53809026 | C | CT | 5 | a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0099 others(2): Show |
5 | HG00621.hp1 HG00642.hp2 HG01358.hp1 others(2): Show |
intron_variant | MODIFIER | c.579+2137dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809026 | |||||||
| chr8:53809196 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+1968G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809196 | |||||||
| chr8:53809462 | A | G | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.579+1702T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809462 | |||||||
| chr8:53809580 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+1584T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809580 | |||||||
| chr8:53809751 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+1413A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809751 | |||||||
| chr8:53809888 | G | A | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.579+1276C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53809888 | |||||||
| chr8:53810050 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+1114C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810050 | |||||||
| chr8:53810265 | G | A | 1 | a0001c0001t0001g0058 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.579+899C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810265 | |||||||
| chr8:53810267 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+897T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810267 | |||||||
| chr8:53810269 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+895T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810269 | |||||||
| chr8:53810370 | G | A | 1 | a0001c0001t0002g0129 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.579+794C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810370 | |||||||
| chr8:53810406 | G | GATTATTT others(4): Show |
2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+757_579+758ins others(11): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810406 | |||||||
| chr8:53810529 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+635G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810529 | |||||||
| chr8:53810633 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+531C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810633 | |||||||
| chr8:53810721 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+443A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810721 | |||||||
| chr8:53810722 | A | G | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.579+442T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810722 | |||||||
| chr8:53810792 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.579+372G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810792 | |||||||
| chr8:53810829 | T | C | 1 | a0001c0001t0002g0101 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.579+335A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810829 | |||||||
| chr8:53810846 | A | G | 25 | a0001c0001t0001g0014 a0001c0001t0001g0242 a0001c0001t0001g0243 others(22): Show |
25 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(22): Show |
intron_variant | MODIFIER | c.579+318T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810846 | |||||||
| chr8:53810873 | T | C | 1 | a0001c0001t0001g0218 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.579+291A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810873 | |||||||
| chr8:53810988 | A | G | 3 | a0001c0001t0002g0123 a0001c0001t0002g0166 a0001c0001t0002g0167 |
3 | NA18945.hp2 NA18962.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.579+176T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53810988 | |||||||
| chr8:53811078 | T | C | 7 | a0001c0001t0002g0087 a0001c0001t0002g0251 a0001c0001t0002g0252 others(4): Show |
7 | HG02055.hp1 HG02895.hp1 HG03486.hp2 others(4): Show |
intron_variant | MODIFIER | c.579+86A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53811078 | |||||||
| chr8:53811131 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.579+33C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | 53811131 | |||||||
| chr8:53811223 | A | C | 1 | a0001c0001t0002g0254 | 1 | HG02055.hp1 | splice_region_variant&intron_variant | LOW | c.526-6T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811223 | |||||||
| chr8:53811488 | T | A | 79 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0002g0002 others(76): Show |
80 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.526-271A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811488 | |||||||
| chr8:53811490 | G | T | 79 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0002g0002 others(76): Show |
80 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.526-273C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811490 | |||||||
| chr8:53811702 | T | C | 1 | a0001c0001t0001g0227 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.526-485A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811702 | |||||||
| chr8:53811795 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-578T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811795 | |||||||
| chr8:53811855 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-638C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811855 | |||||||
| chr8:53811953 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-736T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53811953 | |||||||
| chr8:53812013 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-796T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812013 | |||||||
| chr8:53812098 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-881G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812098 | |||||||
| chr8:53812109 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-892T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812109 | |||||||
| chr8:53812242 | C | A | 1 | a0001c0001t0001g0176 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.526-1025G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812242 | |||||||
| chr8:53812253 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-1036C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812253 | |||||||
| chr8:53812276 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-1059G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812276 | |||||||
| chr8:53812461 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-1244G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812461 | |||||||
| chr8:53812547 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-1330A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812547 | |||||||
| chr8:53812743 | G | C | 1 | a0001c0001t0001g0174 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.526-1526C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812743 | |||||||
| chr8:53812884 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.526-1667C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53812884 | |||||||
| chr8:53813023 | T | A | 1 | a0001c0001t0001g0039 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.525+1639A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813023 | |||||||
| chr8:53813205 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.525+1457C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813205 | |||||||
| chr8:53813217 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.525+1445G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813217 | |||||||
| chr8:53813332 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.525+1330C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813332 | |||||||
| chr8:53813468 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.525+1194T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813468 | |||||||
| chr8:53813737 | A | G | 1 | a0001c0001t0001g0243 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.525+925T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813737 | |||||||
| chr8:53813792 | T | C | 75 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 others(72): Show |
76 | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.525+870A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813792 | |||||||
| chr8:53813890 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.525+772G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813890 | |||||||
| chr8:53813911 | ACAGCTGG others(29): Show |
A | 1 | a0001c0001t0006g0198 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.525+715_525+750del others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53813911 | |||||||
| chr8:53814006 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.525+656A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53814006 | |||||||
| chr8:53814266 | T | C | 1 | a0001c0001t0001g0141 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.525+396A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53814266 | |||||||
| chr8:53814385 | C | T | 1 | a0001c0001t0001g0272 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.525+277G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53814385 | |||||||
| chr8:53814600 | T | C | 1 | a0001c0001t0001g0044 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.525+62A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 6/13 | chr8 | 53814600 | |||||||
| chr8:53814798 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.421-32T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53814798 | |||||||
| chr8:53814895 | G | C | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.421-129C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53814895 | |||||||
| chr8:53815063 | A | G | 1 | a0001c0001t0001g0079 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.421-297T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815063 | |||||||
| chr8:53815094 | C | A | 1 | a0001c0001t0001g0142 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.421-328G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815094 | |||||||
| chr8:53815105 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.421-339G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815105 | |||||||
| chr8:53815180 | G | A | 8 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(5): Show |
8 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.421-414C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815180 | |||||||
| chr8:53815187 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.421-421A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815187 | |||||||
| chr8:53815259 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.421-493T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815259 | |||||||
| chr8:53815274 | A | C | 1 | a0001c0001t0002g0123 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.421-508T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815274 | |||||||
| chr8:53815354 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.421-588A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815354 | |||||||
| chr8:53815587 | T | C | 1 | a0001c0001t0001g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.421-821A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815587 | |||||||
| chr8:53815619 | G | A | 2 | a0001c0001t0001g0075 a0001c0001t0001g0080 |
2 | HG01074.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.421-853C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815619 | |||||||
| chr8:53815774 | G | A | 3 | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 |
3 | NA18944.hp2 NA18969.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.421-1008C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815774 | |||||||
| chr8:53815833 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.421-1067C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53815833 | |||||||
| chr8:53816279 | G | T | 91 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(88): Show |
93 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.420+1138C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816279 | |||||||
| chr8:53816378 | C | G | 1 | a0001c0001t0002g0124 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.420+1039G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816378 | |||||||
| chr8:53816564 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.420+853C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816564 | |||||||
| chr8:53816651 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.420+766T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816651 | |||||||
| chr8:53816696 | T | A | 1 | a0001c0001t0001g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.420+721A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816696 | |||||||
| chr8:53816721 | G | A | 1 | a0001c0001t0002g0145 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.420+696C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816721 | |||||||
| chr8:53816749 | T | C | 88 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(85): Show |
90 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.420+668A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816749 | |||||||
| chr8:53816790 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.420+627C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53816790 | |||||||
| chr8:53817029 | C | T | 13 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(10): Show |
13 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.420+388G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53817029 | |||||||
| chr8:53817210 | A | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.420+207T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53817210 | |||||||
| chr8:53817237 | TA | T | 88 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(85): Show |
90 | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(87): Show |
intron_variant | MODIFIER | c.420+179delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53817237 | |||||||
| chr8:53817349 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.420+68T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53817349 | |||||||
| chr8:53817374 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.420+43A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 5/13 | chr8 | 53817374 | |||||||
| chr8:53817593 | G | A | 2 | a0001c0001t0001g0009 a0001c0001t0001g0276 |
2 | HG02630.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.307-63C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817593 | |||||||
| chr8:53817610 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-80G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817610 | |||||||
| chr8:53817698 | G | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.307-168C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817698 | |||||||
| chr8:53817872 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-342C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817872 | |||||||
| chr8:53817875 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.307-345C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817875 | |||||||
| chr8:53817887 | C | T | 4 | a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show |
4 | HG00741.hp2 HG01192.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.307-357G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817887 | |||||||
| chr8:53817888 | G | C | 2 | a0001c0001t0002g0145 a0003c0004t0002g0144 |
2 | HG03669.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.307-358C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817888 | |||||||
| chr8:53817894 | G | T | 26 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(23): Show |
26 | HG02055.hp1 HG02280.hp1 HG02559.hp2 others(23): Show |
intron_variant | MODIFIER | c.307-364C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53817894 | |||||||
| chr8:53818090 | G | C | 1 | a0001c0001t0001g0058 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.307-560C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818090 | |||||||
| chr8:53818267 | T | A | 1 | a0001c0001t0002g0002 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.307-737A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818267 | |||||||
| chr8:53818271 | T | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-741A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818271 | |||||||
| chr8:53818298 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.307-768C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818298 | |||||||
| chr8:53818589 | T | C | 2 | a0001c0001t0002g0015 a0001c0001t0002g0016 |
2 | HG02572.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.307-1059A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818589 | |||||||
| chr8:53818650 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-1120A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818650 | |||||||
| chr8:53818732 | C | A | 2 | a0001c0001t0002g0105 a0001c0001t0002g0107 |
2 | NA19003.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.307-1202G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818732 | |||||||
| chr8:53818832 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.307-1302A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53818832 | |||||||
| chr8:53819074 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.307-1544G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819074 | |||||||
| chr8:53819097 | T | A | 2 | a0001c0001t0001g0210 a0001c0001t0001g0211 |
2 | NA18975.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.307-1567A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819097 | |||||||
| chr8:53819146 | C | T | 1 | a0001c0001t0002g0159 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.307-1616G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819146 | |||||||
| chr8:53819486 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-1956A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819486 | |||||||
| chr8:53819523 | A | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-1993T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819523 | |||||||
| chr8:53819547 | C | CACATATA others(3): Show |
1 | a0001c0001t0001g0064 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.307-2018_307-2017i others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | C | CAT | 33 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(30): Show |
33 | HG00323.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.307-2019_307-2018d others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | C | CATAT | 20 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(17): Show |
20 | HG00280.hp2 HG00735.hp2 HG01243.hp2 others(17): Show |
intron_variant | MODIFIER | c.307-2021_307-2018d others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | C | CATATAT | 10 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show |
10 | HG01109.hp1 HG01258.hp1 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.307-2023_307-2018d others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | C | CATATATA others(1): Show |
3 | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0185 |
3 | HG00438.hp1 HG02257.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.307-2025_307-2018d others(10): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | C | CATATATA others(3): Show |
2 | a0001c0001t0001g0025 a0001c0001t0001g0184 |
2 | HG02523.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.307-2027_307-2018d others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CAT | C | 56 | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0049 others(53): Show |
56 | HG00423.hp1 HG00609.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.307-2019_307-2018d others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATAT | C | 14 | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0060 others(11): Show |
14 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.307-2021_307-2018d others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATATAT | C | 4 | a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0043 others(1): Show |
4 | HG02109.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.307-2023_307-2018d others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATATATA others(1): Show |
C | 7 | a0001c0001t0001g0012 a0001c0001t0002g0251 a0001c0001t0002g0252 others(4): Show |
7 | HG02895.hp1 HG02896.hp1 HG03486.hp2 others(4): Show |
intron_variant | MODIFIER | c.307-2025_307-2018d others(10): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATATATA others(3): Show |
C | 13 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(10): Show |
13 | HG02055.hp1 HG02559.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.307-2027_307-2018d others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATATATA others(5): Show |
C | 5 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0155 others(2): Show |
5 | HG01993.hp1 HG02572.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.307-2029_307-2018d others(14): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATATATA others(9): Show |
C | 1 | a0001c0001t0002g0104 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.307-2033_307-2018d others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819547 | CATATATA others(15): Show |
C | 1 | a0001c0001t0001g0077 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.307-2039_307-2018d others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819547 | |||||||
| chr8:53819585 | T | A | 59 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0215 others(56): Show |
59 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.307-2055A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819585 | |||||||
| chr8:53819585 | T | TAA | 13 | a0001c0001t0001g0128 a0001c0001t0001g0174 a0001c0001t0001g0260 others(10): Show |
14 | HG00621.hp1 HG01952.hp2 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.307-2057_307-2056d others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819585 | |||||||
| chr8:53819585 | T | TATAA | 8 | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0095 others(5): Show |
8 | HG01981.hp1 HG02809.hp1 NA18948.hp1 others(5): Show |
intron_variant | MODIFIER | c.307-2056_307-2055i others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819585 | |||||||
| chr8:53819585 | T | TATATAA | 6 | a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 others(3): Show |
6 | HG01169.hp2 HG01257.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.307-2056_307-2055i others(8): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819585 | |||||||
| chr8:53819585 | T | TATATATA others(1): Show |
4 | a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 others(1): Show |
4 | HG03669.hp2 NA18962.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.307-2056_307-2055i others(10): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819585 | |||||||
| chr8:53819585 | T | TATATATA others(3): Show |
2 | a0001c0001t0002g0117 a0001c0001t0002g0118 |
2 | NA18942.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.307-2056_307-2055i others(12): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819585 | |||||||
| chr8:53819586 | A | AT | 3 | a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0085 |
3 | HG01517.hp2 HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.307-2057_307-2056i others(3): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819586 | |||||||
| chr8:53819587 | A | T | 1 | a0001c0001t0004g0263 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.307-2057T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819587 | |||||||
| chr8:53819590 | T | A | 1 | a0001c0001t0004g0263 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.307-2060A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819590 | |||||||
| chr8:53819592 | C | T | 1 | a0001c0001t0004g0263 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.307-2062G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819592 | |||||||
| chr8:53819608 | TTGTATAT others(73): Show |
T | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.307-2158_307-2079d others(82): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819608 | |||||||
| chr8:53819609 | T | TGTATATA others(41): Show |
4 | a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 others(1): Show |
4 | HG02083.hp2 NA18983.hp2 NA19077.hp1 others(1): Show |
intron_variant | MODIFIER | c.307-2127_307-2080d others(50): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819609 | |||||||
| chr8:53819609 | TGTATATA others(41): Show |
T | 114 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0128 others(111): Show |
116 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(113): Show |
intron_variant | MODIFIER | c.307-2127_307-2080d others(50): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819609 | |||||||
| chr8:53819618 | ATATATAC others(33): Show |
A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-2128_307-2089d others(42): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819618 | |||||||
| chr8:53819663 | T | C | 1 | a0001c0001t0001g0230 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.307-2133A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819663 | |||||||
| chr8:53819827 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-2297A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53819827 | |||||||
| chr8:53820038 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-2508T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820038 | |||||||
| chr8:53820047 | A | C | 4 | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0280 others(1): Show |
4 | HG02109.hp2 HG02257.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.307-2517T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820047 | |||||||
| chr8:53820061 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-2531T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820061 | |||||||
| chr8:53820238 | G | A | 2 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
2 | HG02083.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.307-2708C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820238 | |||||||
| chr8:53820299 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-2769C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820299 | |||||||
| chr8:53820310 | A | T | 3 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 |
3 | HG01358.hp2 HG03239.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.307-2780T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820310 | |||||||
| chr8:53820582 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3052C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820582 | |||||||
| chr8:53820642 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3112T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820642 | |||||||
| chr8:53820851 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3321T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820851 | |||||||
| chr8:53820934 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3404G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53820934 | |||||||
| chr8:53821068 | GA | G | 91 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(88): Show |
93 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.307-3539delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821068 | |||||||
| chr8:53821078 | AAAG | A | 26 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(23): Show |
26 | HG02055.hp1 HG02280.hp1 HG02559.hp2 others(23): Show |
intron_variant | MODIFIER | c.307-3551_307-3549d others(5): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821078 | |||||||
| chr8:53821085 | G | C | 88 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(85): Show |
90 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.307-3555C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821085 | |||||||
| chr8:53821136 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.307-3606G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821136 | |||||||
| chr8:53821196 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3666G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821196 | |||||||
| chr8:53821203 | T | C | 5 | a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0273 others(2): Show |
5 | HG01891.hp1 HG02109.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.307-3673A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821203 | |||||||
| chr8:53821233 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3703A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821233 | |||||||
| chr8:53821320 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3790G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821320 | |||||||
| chr8:53821324 | G | C | 1 | a0001c0001t0002g0259 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.307-3794C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821324 | |||||||
| chr8:53821372 | C | CA | 6 | a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0086 others(3): Show |
6 | HG02486.hp1 HG02630.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.307-3843dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821372 | |||||||
| chr8:53821372 | CA | C | 35 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(32): Show |
35 | HG00323.hp1 HG00323.hp2 HG01069.hp2 others(32): Show |
intron_variant | MODIFIER | c.307-3843delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821372 | |||||||
| chr8:53821426 | A | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.307-3896T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821426 | |||||||
| chr8:53821430 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-3900A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821430 | |||||||
| chr8:53821488 | C | A | 26 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(23): Show |
26 | HG02055.hp1 HG02280.hp1 HG02559.hp2 others(23): Show |
intron_variant | MODIFIER | c.307-3958G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821488 | |||||||
| chr8:53821526 | C | T | 23 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(20): Show |
23 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(20): Show |
intron_variant | MODIFIER | c.307-3996G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53821526 | |||||||
| chr8:53822076 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-4546C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822076 | |||||||
| chr8:53822192 | A | G | 3 | a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0107 |
3 | HG02040.hp2 NA19003.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.307-4662T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822192 | |||||||
| chr8:53822528 | C | G | 4 | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(1): Show |
4 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.307-4998G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822528 | |||||||
| chr8:53822644 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-5114C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822644 | |||||||
| chr8:53822711 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-5181C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822711 | |||||||
| chr8:53822906 | A | G | 1 | a0001c0001t0001g0242 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.307-5376T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822906 | |||||||
| chr8:53822963 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-5433A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822963 | |||||||
| chr8:53822976 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-5446A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822976 | |||||||
| chr8:53822994 | C | G | 23 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(20): Show |
23 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(20): Show |
intron_variant | MODIFIER | c.307-5464G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53822994 | |||||||
| chr8:53823137 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.307-5607A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823137 | |||||||
| chr8:53823351 | T | C | 1 | a0001c0001t0002g0112 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.307-5821A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823351 | |||||||
| chr8:53823378 | C | T | 1 | a0001c0001t0001g0182 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.307-5848G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823378 | |||||||
| chr8:53823493 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+5951C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823493 | |||||||
| chr8:53823505 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+5939A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823505 | |||||||
| chr8:53823837 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+5607A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823837 | |||||||
| chr8:53823914 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+5530C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53823914 | |||||||
| chr8:53824060 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+5384A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824060 | |||||||
| chr8:53824170 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+5274G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824170 | |||||||
| chr8:53824183 | T | C | 2 | a0001c0001t0001g0222 a0001c0001t0001g0223 |
2 | NA18953.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.306+5261A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824183 | |||||||
| chr8:53824218 | A | G | 1 | a0001c0001t0001g0049 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.306+5226T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824218 | |||||||
| chr8:53824299 | C | A | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.306+5145G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824299 | |||||||
| chr8:53824457 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+4987G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824457 | |||||||
| chr8:53824476 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+4968A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824476 | |||||||
| chr8:53824486 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+4958C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824486 | |||||||
| chr8:53824506 | A | C | 1 | a0001c0001t0002g0261 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.306+4938T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824506 | |||||||
| chr8:53824601 | T | C | 2 | a0001c0001t0002g0105 a0001c0001t0002g0107 |
2 | NA19003.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.306+4843A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824601 | |||||||
| chr8:53824663 | C | A | 1 | a0001c0001t0001g0023 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.306+4781G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53824663 | |||||||
| chr8:53825004 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+4440C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53825004 | |||||||
| chr8:53825103 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+4341C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53825103 | |||||||
| chr8:53825325 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+4119G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53825325 | |||||||
| chr8:53825499 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.306+3945C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53825499 | |||||||
| chr8:53825881 | T | A | 3 | a0001c0001t0001g0048 a0001c0001t0004g0263 a0001c0001t0004g0264 |
3 | HG02572.hp2 HG03098.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.306+3563A>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53825881 | |||||||
| chr8:53826050 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+3394G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826050 | |||||||
| chr8:53826363 | T | C | 1 | a0001c0001t0001g0227 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.306+3081A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826363 | |||||||
| chr8:53826425 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+3019C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826425 | |||||||
| chr8:53826505 | C | T | 1 | a0001c0002t0001g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.306+2939G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826505 | |||||||
| chr8:53826512 | A | G | 90 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(87): Show |
92 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.306+2932T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826512 | |||||||
| chr8:53826619 | CCTGT | C | 3 | a0001c0001t0001g0078 a0001c0001t0004g0263 a0001c0001t0004g0264 |
3 | HG00280.hp2 HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+2821_306+2824d others(6): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826619 | |||||||
| chr8:53826658 | G | A | 6 | a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0225 others(3): Show |
6 | HG00280.hp1 HG00735.hp2 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.306+2786C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826658 | |||||||
| chr8:53826784 | T | TA | 9 | a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0103 others(6): Show |
9 | HG02040.hp2 HG02129.hp2 NA18939.hp1 others(6): Show |
intron_variant | MODIFIER | c.306+2659dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826784 | |||||||
| chr8:53826794 | A | T | 5 | a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0260 others(2): Show |
5 | HG00323.hp2 HG02074.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.306+2650T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826794 | |||||||
| chr8:53826860 | G | A | 1 | a0001c0001t0002g0118 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.306+2584C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826860 | |||||||
| chr8:53826871 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+2573C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826871 | |||||||
| chr8:53826892 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+2552G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826892 | |||||||
| chr8:53826951 | C | CA | 28 | a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0079 others(25): Show |
28 | HG02055.hp1 HG02109.hp2 HG02559.hp2 others(25): Show |
intron_variant | MODIFIER | c.306+2492dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53826951 | |||||||
| chr8:53827143 | A | G | 1 | a0001c0001t0002g0123 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.306+2301T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827143 | |||||||
| chr8:53827168 | G | A | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.306+2276C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827168 | |||||||
| chr8:53827228 | C | T | 1 | a0001c0001t0002g0007 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.306+2216G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827228 | |||||||
| chr8:53827310 | G | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+2134C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827310 | |||||||
| chr8:53827327 | G | T | 1 | a0001c0001t0002g0123 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.306+2117C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827327 | |||||||
| chr8:53827451 | T | C | 1 | a0001c0001t0001g0280 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.306+1993A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827451 | |||||||
| chr8:53827477 | G | A | 2 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.306+1967C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827477 | |||||||
| chr8:53827508 | TGAACACA | T | 15 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(12): Show |
15 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.306+1929_306+1935d others(9): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827508 | |||||||
| chr8:53827607 | T | G | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.306+1837A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827607 | |||||||
| chr8:53827683 | T | G | 1 | a0001c0001t0001g0080 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.306+1761A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827683 | |||||||
| chr8:53827762 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+1682G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827762 | |||||||
| chr8:53827851 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+1593T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827851 | |||||||
| chr8:53827857 | G | A | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.306+1587C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827857 | |||||||
| chr8:53827986 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+1458G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53827986 | |||||||
| chr8:53828063 | C | T | 1 | a0001c0001t0001g0028 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.306+1381G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53828063 | |||||||
| chr8:53828064 | G | A | 1 | a0001c0001t0001g0230 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.306+1380C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53828064 | |||||||
| chr8:53828118 | A | G | 1 | a0001c0001t0001g0278 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.306+1326T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53828118 | |||||||
| chr8:53828449 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+995C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53828449 | |||||||
| chr8:53828582 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.306+862C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53828582 | |||||||
| chr8:53829052 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.306+392G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53829052 | |||||||
| chr8:53829091 | T | C | 1 | a0001c0001t0004g0264 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.306+353A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | 53829091 | |||||||
| chr8:53829812 | C | T | 1 | a0001c0001t0001g0180 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.217-279G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53829812 | |||||||
| chr8:53829816 | G | A | 91 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(88): Show |
93 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.217-283C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53829816 | |||||||
| chr8:53830001 | C | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.217-468G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830001 | |||||||
| chr8:53830052 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.217-519C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830052 | |||||||
| chr8:53830096 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.217-563A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830096 | |||||||
| chr8:53830119 | T | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.217-586A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830119 | |||||||
| chr8:53830135 | A | T | 88 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(85): Show |
90 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.217-602T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830135 | |||||||
| chr8:53830191 | A | G | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.217-658T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830191 | |||||||
| chr8:53830385 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.217-852G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830385 | |||||||
| chr8:53830599 | C | T | 89 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(86): Show |
91 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.217-1066G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53830599 | |||||||
| chr8:53831146 | T | C | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.217-1613A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831146 | |||||||
| chr8:53831248 | G | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.217-1715C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831248 | |||||||
| chr8:53831296 | T | C | 1 | a0001c0001t0001g0231 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.216+1688A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831296 | |||||||
| chr8:53831385 | A | G | 26 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(23): Show |
26 | HG02055.hp1 HG02280.hp1 HG02559.hp2 others(23): Show |
intron_variant | MODIFIER | c.216+1599T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831385 | |||||||
| chr8:53831409 | G | A | 1 | a0001c0001t0001g0081 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.216+1575C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831409 | |||||||
| chr8:53831747 | C | CT | 38 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(35): Show |
38 | HG00323.hp2 HG01358.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.216+1236dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831747 | |||||||
| chr8:53831747 | CT | C | 12 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0042 others(9): Show |
12 | HG01070.hp1 HG01169.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.216+1236delA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831747 | |||||||
| chr8:53831771 | G | A | 1 | a0001c0001t0001g0235 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.216+1213C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831771 | |||||||
| chr8:53831796 | A | G | 1 | a0001c0001t0002g0119 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.216+1188T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831796 | |||||||
| chr8:53831841 | T | C | 1 | a0001c0001t0001g0277 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.216+1143A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831841 | |||||||
| chr8:53831884 | C | A | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.216+1100G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53831884 | |||||||
| chr8:53832108 | C | T | 1 | a0001c0001t0002g0089 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.216+876G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832108 | |||||||
| chr8:53832115 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.216+869T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832115 | |||||||
| chr8:53832325 | A | G | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.216+659T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832325 | |||||||
| chr8:53832558 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.216+426G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832558 | |||||||
| chr8:53832559 | G | A | 5 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show |
5 | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.216+425C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832559 | |||||||
| chr8:53832790 | T | C | 1 | a0001c0001t0001g0083 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.216+194A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832790 | |||||||
| chr8:53832863 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.216+121C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832863 | |||||||
| chr8:53832972 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.216+12A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832972 | |||||||
| chr8:53832978 | C | G | 248 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(245): Show |
250 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(247): Show |
splice_region_variant&intron_variant | LOW | c.216+6G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 3/13 | chr8 | 53832978 | |||||||
| chr8:53833186 | C | T | 4 | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(1): Show |
4 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.114-100G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833186 | |||||||
| chr8:53833193 | G | C | 1 | a0001c0001t0001g0014 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.114-107C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833193 | |||||||
| chr8:53833216 | C | A | 1 | a0001c0001t0002g0117 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.114-130G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833216 | |||||||
| chr8:53833304 | G | A | 17 | a0001c0001t0001g0009 a0001c0001t0001g0265 a0001c0001t0001g0266 others(14): Show |
17 | HG01192.hp1 HG01891.hp1 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.114-218C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833304 | |||||||
| chr8:53833322 | C | T | 1 | a0001c0001t0002g0118 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.114-236G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833322 | |||||||
| chr8:53833505 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-419T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833505 | |||||||
| chr8:53833517 | G | A | 1 | a0001c0001t0001g0235 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.114-431C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833517 | |||||||
| chr8:53833562 | A | C | 1 | a0001c0001t0001g0044 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.114-476T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833562 | |||||||
| chr8:53833567 | C | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-481G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833567 | |||||||
| chr8:53833671 | G | A | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.114-585C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833671 | |||||||
| chr8:53833835 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.114-749A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833835 | |||||||
| chr8:53833926 | A | G | 231 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(228): Show |
233 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(230): Show |
intron_variant | MODIFIER | c.114-840T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53833926 | |||||||
| chr8:53834089 | T | C | 1 | a0001c0001t0002g0013 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.114-1003A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834089 | |||||||
| chr8:53834187 | T | C | 4 | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(1): Show |
4 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.114-1101A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834187 | |||||||
| chr8:53834336 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-1250T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834336 | |||||||
| chr8:53834364 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-1278T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834364 | |||||||
| chr8:53834474 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-1388C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834474 | |||||||
| chr8:53834489 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-1403C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834489 | |||||||
| chr8:53834615 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-1529C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53834615 | |||||||
| chr8:53835124 | T | G | 93 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(90): Show |
95 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(92): Show |
intron_variant | MODIFIER | c.114-2038A>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835124 | |||||||
| chr8:53835252 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-2166A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835252 | |||||||
| chr8:53835294 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-2208T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835294 | |||||||
| chr8:53835441 | G | A | 1 | a0001c0001t0001g0236 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.114-2355C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835441 | |||||||
| chr8:53835576 | A | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.114-2490T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835576 | |||||||
| chr8:53835679 | A | AT | 119 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(116): Show |
121 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(118): Show |
intron_variant | MODIFIER | c.114-2594dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835679 | |||||||
| chr8:53835881 | A | G | 124 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(121): Show |
126 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(123): Show |
intron_variant | MODIFIER | c.114-2795T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835881 | |||||||
| chr8:53835930 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-2844A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835930 | |||||||
| chr8:53835937 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-2851C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53835937 | |||||||
| chr8:53836085 | G | A | 23 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(20): Show |
23 | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(20): Show |
intron_variant | MODIFIER | c.114-2999C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53836085 | |||||||
| chr8:53836117 | T | C | 15 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(12): Show |
15 | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.114-3031A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53836117 | |||||||
| chr8:53836622 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.114-3536G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53836622 | |||||||
| chr8:53836671 | C | A | 1 | a0001c0001t0001g0237 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.114-3585G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53836671 | |||||||
| chr8:53836745 | A | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.114-3659T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53836745 | |||||||
| chr8:53836770 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-3684A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53836770 | |||||||
| chr8:53837002 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-3916C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837002 | |||||||
| chr8:53837034 | G | A | 4 | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(1): Show |
4 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.114-3948C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837034 | |||||||
| chr8:53837073 | G | A | 88 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(85): Show |
90 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.114-3987C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837073 | |||||||
| chr8:53837096 | G | A | 5 | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(2): Show |
5 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.114-4010C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837096 | |||||||
| chr8:53837156 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.114-4070C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837156 | |||||||
| chr8:53837463 | A | G | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.113+4115T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837463 | |||||||
| chr8:53837494 | G | GA | 8 | a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0238 others(5): Show |
8 | HG01517.hp2 HG02109.hp2 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.113+4083dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837494 | |||||||
| chr8:53837494 | GA | G | 106 | a0001c0001t0001g0014 a0001c0001t0001g0128 a0001c0001t0001g0141 others(103): Show |
108 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(105): Show |
intron_variant | MODIFIER | c.113+4083delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837494 | |||||||
| chr8:53837625 | A | G | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.113+3953T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837625 | |||||||
| chr8:53837948 | G | A | 88 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(85): Show |
90 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.113+3630C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53837948 | |||||||
| chr8:53838039 | A | G | 3 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 |
3 | HG02055.hp2 HG03579.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.113+3539T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838039 | |||||||
| chr8:53838127 | C | CT | 231 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(228): Show |
233 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(230): Show |
intron_variant | MODIFIER | c.113+3450dupA | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838127 | |||||||
| chr8:53838185 | GTGCAACC others(9): Show |
G | 1 | a0001c0001t0001g0022 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.113+3377_113+3392d others(18): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838185 | |||||||
| chr8:53838212 | A | G | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+3366T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838212 | |||||||
| chr8:53838376 | C | T | 1 | a0001c0001t0002g0088 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.113+3202G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838376 | |||||||
| chr8:53838399 | G | A | 1 | a0001c0001t0001g0241 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.113+3179C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838399 | |||||||
| chr8:53838409 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+3169C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838409 | |||||||
| chr8:53838677 | G | A | 1 | a0001c0003t0001g0010 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.113+2901C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53838677 | |||||||
| chr8:53839005 | G | A | 1 | a0001c0001t0001g0086 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.113+2573C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839005 | |||||||
| chr8:53839131 | C | T | 30 | a0001c0001t0001g0021 a0001c0001t0002g0013 a0001c0001t0002g0088 others(27): Show |
30 | HG00621.hp1 HG00642.hp2 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.113+2447G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839131 | |||||||
| chr8:53839244 | A | C | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG02280.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.113+2334T>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839244 | |||||||
| chr8:53839441 | G | A | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.113+2137C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839441 | |||||||
| chr8:53839622 | C | G | 1 | a0001c0001t0001g0176 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.113+1956G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839622 | |||||||
| chr8:53839648 | T | C | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.113+1930A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839648 | |||||||
| chr8:53839683 | G | A | 1 | a0001c0001t0002g0259 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.113+1895C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839683 | |||||||
| chr8:53839891 | A | G | 1 | a0001c0001t0002g0001 | 2 | NA18991.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.113+1687T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53839891 | |||||||
| chr8:53840040 | ATTCCCAA others(74): Show |
A | 1 | a0001c0001t0001g0020 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.113+1457_113+1537d others(83): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840040 | |||||||
| chr8:53840123 | A | AATTTTTT others(74): Show |
1 | a0001c0001t0001g0020 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.113+1454_113+1455i others(83): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840123 | |||||||
| chr8:53840143 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+1435A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840143 | |||||||
| chr8:53840235 | C | T | 1 | a0001c0001t0001g0260 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.113+1343G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840235 | |||||||
| chr8:53840261 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+1317C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840261 | |||||||
| chr8:53840280 | G | T | 10 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(7): Show |
10 | HG02559.hp2 HG02615.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.113+1298C>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840280 | |||||||
| chr8:53840430 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+1148C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840430 | |||||||
| chr8:53840497 | C | CA | 118 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(115): Show |
120 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(117): Show |
intron_variant | MODIFIER | c.113+1080dupT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840497 | |||||||
| chr8:53840497 | CA | C | 6 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0267 others(3): Show |
6 | HG01069.hp2 HG02572.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.113+1080delT | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840497 | |||||||
| chr8:53840684 | A | T | 1 | a0001c0001t0001g0175 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.113+894T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840684 | |||||||
| chr8:53840900 | T | C | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+678A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840900 | |||||||
| chr8:53840948 | T | C | 141 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(138): Show |
143 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(140): Show |
intron_variant | MODIFIER | c.113+630A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53840948 | |||||||
| chr8:53841067 | C | T | 1 | a0001c0001t0001g0266 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.113+511G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53841067 | |||||||
| chr8:53841167 | T | C | 1 | a0001c0001t0001g0008 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.113+411A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53841167 | |||||||
| chr8:53841292 | C | T | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.113+286G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53841292 | |||||||
| chr8:53841352 | A | G | 110 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(107): Show |
112 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(109): Show |
intron_variant | MODIFIER | c.113+226T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53841352 | |||||||
| chr8:53841545 | A | T | 1 | a0001c0001t0001g0171 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.113+33T>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | 53841545 | |||||||
| chr8:53841807 | G | A | 59 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 others(56): Show |
61 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.-35-82C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53841807 | |||||||
| chr8:53842003 | T | C | 1 | a0001c0001t0002g0169 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-35-278A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842003 | |||||||
| chr8:53842183 | C | A | 3 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 |
3 | HG02896.hp2 HG02897.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.-35-458G>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842183 | |||||||
| chr8:53842264 | T | C | 72 | a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 others(69): Show |
72 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(69): Show |
intron_variant | MODIFIER | c.-35-539A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842264 | |||||||
| chr8:53842454 | T | C | 19 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(16): Show |
19 | HG02055.hp1 HG02559.hp2 HG02615.hp2 others(16): Show |
intron_variant | MODIFIER | c.-36+580A>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842454 | |||||||
| chr8:53842519 | G | A | 2 | a0001c0001t0002g0261 a0001c0001t0002g0262 |
2 | NA18945.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.-36+515C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842519 | |||||||
| chr8:53842671 | C | T | 1 | a0001c0001t0001g0008 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-36+363G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842671 | |||||||
| chr8:53842677 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.-36+357C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842677 | |||||||
| chr8:53842697 | A | G | 1 | a0001c0001t0001g0265 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-36+337T>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842697 | |||||||
| chr8:53842754 | G | A | 2 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | HG02572.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.-36+280C>T | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842754 | |||||||
| chr8:53842770 | C | T | 1 | a0001c0001t0002g0007 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.-36+264G>A | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842770 | |||||||
| chr8:53842907 | G | C | 19 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(16): Show |
19 | HG01192.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.-36+127C>G | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53842907 | |||||||
| chr8:53843019 | C | G | 4 | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(1): Show |
4 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.-36+15G>C | ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/13 | chr8 | 53843019 |