Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 647135 |
| ensemblid | ENSG00000196369.12 |
| hgncid | 35237 |
| symbol | SRGAP2B |
| name | SLIT-ROBO Rho GTPase activating protein 2B |
| refseq_nuc | NM_001271870.5 |
| refseq_prot | NP_001258799.2 |
| ensembl_nuc | ENST00000641863.3 |
| ensembl_prot | ENSP00000493121.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 144887288 |
| end | 145095328 |
| strand | - |
| ver | v1.2 |
| region | chr1:144887288-145095328 |
| region5000 | chr1:144882288-145100328 |
| regionname0 | SRGAP2B_chr1_144887288_145095328 |
| regionname5000 | SRGAP2B_chr1_144882288_145100328 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 459 | 44 | 2 | 15 | 15 | 4 | 6 | 6 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0002 | 0/0 | 459 | 4 | 0 | 0 | 4 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0003 | 0/0 | 459 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0004 | 0/0 | 459 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0005 | 0/0 | 459 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0006 | 0/0 | 459 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0007 | 0/0 | 459 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0008 | 0/0 | 459 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| a0009 | 0/0 | 459 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | MTSPA others(454): Show |
chr1 | 144882288 | 145100328 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1377 | 44 | 2 | 15 | 15 | 4 | 6 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0002c0002 | 0/0 | 1377 | 4 | 0 | 0 | 4 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0003c0003 | 0/0 | 1377 | 2 | 0 | 0 | 0 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0004c0005 | 0/0 | 1377 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0005c0008 | 0/0 | 1377 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0006c0006 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0007c0007 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0008c0004 | 0/0 | 1377 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 | ||
| a0009c0009 | 0/0 | 1377 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ATGAC others(1372): Show |
chr1 | 144882288 | 145100328 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 6900 | 27 | 0 | 10 | 11 | 2 | 3 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0002 | 1/0 | 6900 | 7 | 0 | 1 | 3 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0003 | 0/0 | 6902 | 2 | 0 | 1 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6897): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0007 | 0/0 | 6900 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0008 | 0/0 | 6900 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0009 | 0/0 | 6900 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0012 | 0/0 | 6901 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6896): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0013 | 0/0 | 6901 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6896): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0015 | 0/0 | 6902 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6897): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0016 | 0/0 | 6902 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6897): Show |
chr1 | 144882288 | 145100328 |
| a0001c0001t0017 | 0/0 | 6900 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0002c0002t0001 | 0/0 | 6900 | 2 | 0 | 0 | 2 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0002c0002t0010 | 0/0 | 6900 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0002c0002t0011 | 0/0 | 6900 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0003c0003t0004 | 0/0 | 6900 | 2 | 0 | 0 | 0 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0004c0005t0006 | 0/0 | 6900 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0005c0008t0005 | 0/0 | 6901 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6896): Show |
chr1 | 144882288 | 145100328 |
| a0006c0006t0014 | 0/0 | 6902 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6897): Show |
chr1 | 144882288 | 145100328 |
| a0007c0007t0018 | 0/0 | 6900 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6895): Show |
chr1 | 144882288 | 145100328 |
| a0008c0004t0005 | 0/0 | 6901 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6896): Show |
chr1 | 144882288 | 145100328 |
| a0009c0009t0003 | 0/0 | 6902 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | ACTGG others(6897): Show |
chr1 | 144882288 | 145100328 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0034 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0013 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0003g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0007g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0008g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0009g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0012g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0013g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0015g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0016g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0017g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0010g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0011g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0003c0003t0004g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0003c0003t0004g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0004c0005t0006g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0005c0008t0005g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0006c0006t0014g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0007c0007t0018g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0008c0004t0005g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0009c0009t0003g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0050 | EUR | FIN | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0032 | EUR | FIN | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00673 | hp1 | a0002 | c0002 | t0010 | g0023 | EAS | CHS | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | CHS | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0044 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01109 | hp1 | a0001 | c0001 | t0009 | g0046 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01175 | hp2 | a0004 | c0005 | t0006 | g0053 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01346 | hp1 | a0001 | c0001 | t0015 | g0010 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01346 | hp2 | a0001 | c0001 | t0013 | g0025 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01952 | hp1 | a0001 | c0001 | t0003 | g0022 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0019 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0041 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02015 | hp1 | a0002 | c0002 | t0001 | g0042 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02071 | hp2 | a0002 | c0002 | t0011 | g0028 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02083 | hp2 | a0002 | c0002 | t0001 | g0031 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0017 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02135 | hp1 | a0005 | c0008 | t0005 | g0039 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02257 | hp1 | a0001 | c0001 | t0017 | g0043 | AFR | ACB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02257 | hp2 | a0001 | c0001 | t0008 | g0005 | AFR | ACB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02602 | hp1 | a0001 | c0001 | t0002 | g0035 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02615 | hp1 | a0006 | c0006 | t0014 | g0007 | AFR | GWD | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02615 | hp2 | a0007 | c0007 | t0018 | g0001 | AFR | GWD | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03490 | hp1 | a0008 | c0004 | t0005 | g0012 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03490 | hp2 | a0003 | c0003 | t0004 | g0055 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03492 | hp1 | a0003 | c0003 | t0004 | g0054 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03492 | hp2 | a0009 | c0009 | t0003 | g0014 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0052 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03831 | hp2 | a0001 | c0001 | t0016 | g0038 | SAS | BEB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18941 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18941 | hp2 | a0001 | c0001 | t0007 | g0011 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0008 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA20805 | hp1 | a0001 | c0001 | t0012 | g0051 | EUR | TSI | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA20805 | hp2 | a0001 | c0001 | t0003 | g0016 | EUR | TSI | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0034 | REF | REF | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0013 | REF | REF | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144892167 | C | G | 1 | a0002 | 4 | HG00673.hp1 HG02015.hp1 HG02071.hp2 others(1): Show |
missense_variant | MODERATE | c.1373G>C | p.Gly458Ala | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2021/6900 | 1373/1380 | 458/459 | chr1 | 144892167 | |||
| chr1:144892276 | C | T | 1 | a0006 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.1264G>A | p.Val422Ile | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 1912/6900 | 1264/1380 | 422/459 | chr1 | 144892276 | |||
| chr1:144905174 | G | A | 1 | a0007 | 1 | HG02615.hp2 | missense_variant | MODERATE | c.748C>T | p.Arg250Trp | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/10 | 1396/6900 | 748/1380 | 250/459 | chr1 | 144905174 | |||
| chr1:144905218 | C | T | 1 | a0004 | 1 | HG01175.hp2 | missense_variant&splice_region_variant | MODERATE | c.704G>A | p.Arg235His | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/10 | 1352/6900 | 704/1380 | 235/459 | chr1 | 144905218 | |||
| chr1:144906010 | G | A | 1 | a0005 | 1 | HG02135.hp1 | missense_variant | MODERATE | c.551C>T | p.Ala184Val | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/10 | 1199/6900 | 551/1380 | 184/459 | chr1 | 144906010 | |||
| chr1:144914693 | G | A | 1 | a0003 | 2 | HG03490.hp2 HG03492.hp1 |
missense_variant&splice_region_variant | MODERATE | c.485C>T | p.Ser162Leu | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/10 | 1133/6900 | 485/1380 | 162/459 | chr1 | 144914693 | |||
| chr1:144995143 | C | T | 1 | a0008 | 1 | HG03490.hp1 | missense_variant | MODERATE | c.125G>A | p.Arg42Gln | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/10 | 773/6900 | 125/1380 | 42/459 | chr1 | 144995143 | |||
| chr1:144995194 | C | A | 1 | a0009 | 1 | HG03492.hp2 | missense_variant | MODERATE | c.74G>T | p.Arg25Leu | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/10 | 722/6900 | 74/1380 | 25/459 | chr1 | 144995194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144892181 | C | T | 1 | a0004c0005 | 1 | HG01175.hp2 | synonymous_variant | LOW | c.1359G>A | p.Val453Val | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2007/6900 | 1359/1380 | 453/459 | chr1 | 144892181 | |||
| chr1:145092869 | C | T | 1 | a0003c0003 | 2 | HG03490.hp2 HG03492.hp1 |
synonymous_variant | LOW | c.33G>A | p.Lys11Lys | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/10 | 681/6900 | 33/1380 | 11/459 | chr1 | 145092869 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144887375 | A | G | 1 | a0001c0001t0013 | 1 | HG01346.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4785T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4785 | chr1 | 144887375 | ||||||
| chr1:144887394 | C | T | 15 | a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(12): Show |
42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*4766G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4766 | chr1 | 144887394 | ||||||
| chr1:144887843 | G | C | 15 | a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(12): Show |
42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*4317C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4317 | chr1 | 144887843 | ||||||
| chr1:144887936 | T | G | 1 | a0001c0001t0009 | 1 | HG01109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4224A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4224 | chr1 | 144887936 | ||||||
| chr1:144888185 | G | A | 1 | a0004c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3975C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3975 | chr1 | 144888185 | ||||||
| chr1:144888371 | C | G | 1 | a0001c0001t0012 | 1 | NA20805.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3789G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3789 | chr1 | 144888371 | ||||||
| chr1:144888596 | G | A | 1 | a0001c0001t0015 | 1 | HG01346.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3564C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3564 | chr1 | 144888596 | ||||||
| chr1:144888673 | G | C | 1 | a0003c0003t0004 | 2 | HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3487C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3487 | chr1 | 144888673 | ||||||
| chr1:144888792 | C | G | 1 | a0001c0001t0007 | 1 | NA18941.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3368G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3368 | chr1 | 144888792 | ||||||
| chr1:144888881 | G | A | 1 | a0003c0003t0004 | 2 | HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3279C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3279 | chr1 | 144888881 | ||||||
| chr1:144888884 | C | T | 1 | a0001c0001t0008 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3276G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3276 | chr1 | 144888884 | ||||||
| chr1:144889167 | C | A | 2 | a0001c0001t0013 a0003c0003t0004 |
3 | HG01346.hp2 HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2993G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2993 | chr1 | 144889167 | ||||||
| chr1:144889241 | T | C | 3 | a0001c0001t0013 a0003c0003t0004 a0004c0005t0006 |
4 | HG01175.hp2 HG01346.hp2 HG03490.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2919A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2919 | chr1 | 144889241 | ||||||
| chr1:144890150 | G | A | 1 | a0002c0002t0010 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2010C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2010 | chr1 | 144890150 | ||||||
| chr1:144890319 | T | C | 1 | a0002c0002t0011 | 1 | HG02071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1841A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 1841 | chr1 | 144890319 | ||||||
| chr1:144890390 | C | T | 1 | a0004c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1770G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 1770 | chr1 | 144890390 | ||||||
| chr1:144891571 | T | TA | 4 | a0001c0001t0012 a0001c0001t0013 a0005c0008t0005 others(1): Show |
4 | HG01346.hp2 HG02135.hp1 HG03490.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*588dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 588 | chr1 | 144891571 | ||||||
| chr1:144891571 | T | TAA | 5 | a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 others(2): Show |
6 | HG01346.hp1 HG01952.hp1 HG02615.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*587_*588dupTT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 588 | chr1 | 144891571 | ||||||
| chr1:144891597 | G | A | 1 | a0004c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*563C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 563 | chr1 | 144891597 | ||||||
| chr1:144891624 | G | C | 1 | a0001c0001t0016 | 1 | HG03831.hp2 | 3_prime_UTR_variant | MODIFIER | c.*536C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 536 | chr1 | 144891624 | ||||||
| chr1:144891772 | A | G | 1 | a0001c0001t0007 | 1 | NA18941.hp2 | 3_prime_UTR_variant | MODIFIER | c.*388T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 388 | chr1 | 144891772 | ||||||
| chr1:144891966 | G | C | 1 | a0001c0001t0017 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*194C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 194 | chr1 | 144891966 | ||||||
| chr1:144892033 | C | G | 1 | a0004c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*127G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 127 | chr1 | 144892033 | ||||||
| chr1:145093175 | G | A | 1 | a0007c0007t0018 | 1 | HG02615.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-274C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/10 | chr1 | 145093175 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144892434 | G | A | 13 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(10): Show |
13 | HG00673.hp2 HG01952.hp2 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.1159-53C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 9/9 | chr1 | 144892434 | |||||||
| chr1:144892687 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1159-306C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 9/9 | chr1 | 144892687 | |||||||
| chr1:144893979 | C | A | 2 | a0001c0001t0001g0037 a0001c0001t0001g0056 |
2 | HG02523.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.1057-470G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893979 | |||||||
| chr1:144893981 | T | C | 4 | a0001c0001t0003g0022 a0004c0005t0006g0053 a0006c0006t0014g0007 others(1): Show |
4 | HG01175.hp2 HG01952.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1057-472A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893981 | |||||||
| chr1:144893990 | T | A | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1057-481A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893990 | |||||||
| chr1:144894006 | C | T | 1 | a0001c0001t0002g0035 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1057-497G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894006 | |||||||
| chr1:144894039 | T | A | 4 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0004c0005t0006g0053 others(1): Show |
4 | HG01175.hp2 HG02615.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.1057-530A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894039 | |||||||
| chr1:144894276 | G | C | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1057-767C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894276 | |||||||
| chr1:144894328 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1057-819C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894328 | |||||||
| chr1:144895548 | C | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1056+1568G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144895548 | |||||||
| chr1:144895564 | A | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1056+1552T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144895564 | |||||||
| chr1:144895704 | A | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1056+1412T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144895704 | |||||||
| chr1:144896470 | G | A | 2 | a0004c0005t0006g0053 a0007c0007t0018g0001 |
2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.1056+646C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144896470 | |||||||
| chr1:144896471 | C | A | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1056+645G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144896471 | |||||||
| chr1:144896979 | G | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1056+137C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144896979 | |||||||
| chr1:144897655 | A | G | 2 | a0004c0005t0006g0053 a0007c0007t0018g0001 |
2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-315T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144897655 | |||||||
| chr1:144897673 | G | T | 2 | a0004c0005t0006g0053 a0007c0007t0018g0001 |
2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-333C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144897673 | |||||||
| chr1:144897728 | C | G | 2 | a0004c0005t0006g0053 a0007c0007t0018g0001 |
2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-388G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144897728 | |||||||
| chr1:144898298 | A | G | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.832-958T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898298 | |||||||
| chr1:144898517 | C | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1177G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898517 | |||||||
| chr1:144898549 | G | A | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.832-1209C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898549 | |||||||
| chr1:144898555 | A | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1215T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898555 | |||||||
| chr1:144898709 | C | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1369G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898709 | |||||||
| chr1:144898755 | G | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.832-1415C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898755 | |||||||
| chr1:144898845 | A | G | 1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.832-1505T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898845 | |||||||
| chr1:144899165 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1825C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144899165 | |||||||
| chr1:144899222 | G | A | 1 | a0008c0004t0005g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.832-1882C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144899222 | |||||||
| chr1:144899682 | T | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-2342A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144899682 | |||||||
| chr1:144900030 | C | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-2690G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144900030 | |||||||
| chr1:144900247 | C | T | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.832-2907G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144900247 | |||||||
| chr1:144900695 | T | C | 3 | a0001c0001t0009g0046 a0004c0005t0006g0053 a0007c0007t0018g0001 |
3 | HG01109.hp1 HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-3355A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144900695 | |||||||
| chr1:144901058 | C | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-3718G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144901058 | |||||||
| chr1:144901661 | C | T | 4 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0004c0005t0006g0053 others(1): Show |
4 | HG01175.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.831+3430G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144901661 | |||||||
| chr1:144902679 | G | T | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.831+2412C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144902679 | |||||||
| chr1:144902694 | G | A | 2 | a0004c0005t0006g0053 a0005c0008t0005g0039 |
2 | HG01175.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.831+2397C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144902694 | |||||||
| chr1:144902740 | C | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+2351G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144902740 | |||||||
| chr1:144903311 | T | C | 5 | a0001c0001t0001g0006 a0002c0002t0001g0031 a0002c0002t0001g0042 others(2): Show |
5 | HG00673.hp1 HG02015.hp1 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.831+1780A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903311 | |||||||
| chr1:144903516 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+1575C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903516 | |||||||
| chr1:144903828 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+1263C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903828 | |||||||
| chr1:144903830 | T | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.831+1261A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903830 | |||||||
| chr1:144904004 | C | T | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.831+1087G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904004 | |||||||
| chr1:144904112 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.831+979A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904112 | |||||||
| chr1:144904199 | G | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+892C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904199 | |||||||
| chr1:144904628 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.831+463C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904628 | |||||||
| chr1:144904698 | C | CA | 28 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 others(25): Show |
28 | HG00280.hp1 HG00673.hp1 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.831+392dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904698 | |||||||
| chr1:144904754 | G | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+337C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904754 | |||||||
| chr1:144904956 | T | A | 28 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(25): Show |
28 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.831+135A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904956 | |||||||
| chr1:144905021 | A | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+70T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144905021 | |||||||
| chr1:144905034 | C | G | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.831+57G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144905034 | |||||||
| chr1:144905433 | T | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.703-214A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/9 | chr1 | 144905433 | |||||||
| chr1:144905664 | A | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.702+195T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/9 | chr1 | 144905664 | |||||||
| chr1:144905785 | G | A | 4 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0004c0005t0006g0053 others(1): Show |
4 | HG01175.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.702+74C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/9 | chr1 | 144905785 | |||||||
| chr1:144906120 | T | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-46A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906120 | |||||||
| chr1:144906145 | A | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-71T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906145 | |||||||
| chr1:144906207 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.487-133T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906207 | |||||||
| chr1:144906358 | C | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-284G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906358 | |||||||
| chr1:144906580 | T | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-506A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906580 | |||||||
| chr1:144906684 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.487-610G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906684 | |||||||
| chr1:144906865 | C | T | 1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.487-791G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906865 | |||||||
| chr1:144906997 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-923G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906997 | |||||||
| chr1:144907138 | C | CGT | 2 | a0001c0001t0001g0018 a0001c0001t0009g0046 |
2 | HG01109.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.487-1066_487-1065d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907138 | |||||||
| chr1:144907138 | CGT | C | 3 | a0001c0001t0001g0019 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG01952.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-1066_487-1065d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907138 | |||||||
| chr1:144907164 | CATGTGTG others(3): Show |
C | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.487-1100_487-1091d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907164 | |||||||
| chr1:144907378 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-1304T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907378 | |||||||
| chr1:144907539 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-1465C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907539 | |||||||
| chr1:144907580 | A | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-1506T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907580 | |||||||
| chr1:144907719 | T | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-1645A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907719 | |||||||
| chr1:144908220 | G | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-2146C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908220 | |||||||
| chr1:144908307 | A | G | 2 | a0004c0005t0006g0053 a0006c0006t0014g0007 |
2 | HG01175.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.487-2233T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908307 | |||||||
| chr1:144908439 | G | A | 13 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(10): Show |
13 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(10): Show |
intron_variant | MODIFIER | c.487-2365C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908439 | |||||||
| chr1:144908613 | C | T | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.487-2539G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908613 | |||||||
| chr1:144908642 | A | C | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-2568T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908642 | |||||||
| chr1:144908787 | T | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-2713A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908787 | |||||||
| chr1:144908940 | G | C | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.487-2866C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908940 | |||||||
| chr1:144909077 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-3003G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144909077 | |||||||
| chr1:144909144 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-3070C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144909144 | |||||||
| chr1:144909189 | C | T | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-3115G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144909189 | |||||||
| chr1:144911135 | G | C | 12 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(9): Show |
12 | HG00673.hp2 HG01952.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.486+3557C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144911135 | |||||||
| chr1:144912013 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.486+2679G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912013 | |||||||
| chr1:144912603 | C | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.486+2089G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912603 | |||||||
| chr1:144912691 | T | A | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+2001A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912691 | |||||||
| chr1:144912779 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.486+1913A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912779 | |||||||
| chr1:144915304 | T | C | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.424-550A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915304 | |||||||
| chr1:144915437 | C | G | 1 | a0001c0001t0002g0008 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.424-683G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915437 | |||||||
| chr1:144915517 | G | T | 1 | a0001c0001t0001g0018 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.424-763C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915517 | |||||||
| chr1:144915682 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.424-928G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915682 | |||||||
| chr1:144916077 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.424-1323A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916077 | |||||||
| chr1:144916182 | A | T | 1 | a0002c0002t0010g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.424-1428T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916182 | |||||||
| chr1:144916740 | T | C | 15 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(12): Show |
15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.424-1986A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916740 | |||||||
| chr1:144916764 | C | T | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.424-2010G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916764 | |||||||
| chr1:144917129 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-2375C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917129 | |||||||
| chr1:144917365 | T | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-2611A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917365 | |||||||
| chr1:144917626 | G | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-2872C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917626 | |||||||
| chr1:144917917 | G | A | 1 | a0001c0001t0001g0018 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.424-3163C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917917 | |||||||
| chr1:144918276 | G | GA | 4 | a0001c0001t0001g0009 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02615.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.424-3523dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144918276 | |||||||
| chr1:144919669 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-4915C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144919669 | |||||||
| chr1:144920972 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-6218T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144920972 | |||||||
| chr1:144921171 | T | C | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.424-6417A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921171 | |||||||
| chr1:144921269 | CA | C | 37 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0018 others(34): Show |
37 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.424-6516delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921269 | |||||||
| chr1:144921269 | CAAAAAAA others(7): Show |
C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-6529_424-6516d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921269 | |||||||
| chr1:144921960 | C | A | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.424-7206G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921960 | |||||||
| chr1:144922708 | G | A | 3 | a0001c0001t0012g0051 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG03490.hp2 HG03492.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.424-7954C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144922708 | |||||||
| chr1:144922858 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.424-8104G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144922858 | |||||||
| chr1:144924731 | C | CA | 8 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0019 others(5): Show |
8 | HG01258.hp1 HG01952.hp1 HG01952.hp2 others(5): Show |
intron_variant | MODIFIER | c.424-9978dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144924731 | |||||||
| chr1:144924887 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-10133T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144924887 | |||||||
| chr1:144925035 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-10281T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925035 | |||||||
| chr1:144925162 | C | A | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.424-10408G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925162 | |||||||
| chr1:144925224 | C | T | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.424-10470G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925224 | |||||||
| chr1:144925549 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-10795A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925549 | |||||||
| chr1:144925693 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-10939C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925693 | |||||||
| chr1:144925708 | A | G | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.424-10954T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925708 | |||||||
| chr1:144925720 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.424-10966C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925720 | |||||||
| chr1:144925723 | AAAGAAAA others(5): Show |
A | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.424-10981_424-1097 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925723 | |||||||
| chr1:144925727 | A | AAAAG | 6 | a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0049 others(3): Show |
6 | HG00280.hp2 HG00735.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.424-10977_424-1097 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | |||||||
| chr1:144925727 | A | AAAAGAAA others(1): Show |
13 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0041 others(10): Show |
13 | HG00280.hp1 HG01175.hp2 HG01978.hp2 others(10): Show |
intron_variant | MODIFIER | c.424-10981_424-1097 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | |||||||
| chr1:144925727 | A | AAAAGAAA others(5): Show |
1 | a0005c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.424-10985_424-1097 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | |||||||
| chr1:144925727 | A | AAAG | 2 | a0001c0001t0013g0025 a0001c0001t0017g0043 |
2 | HG01346.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.424-10974_424-1097 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | |||||||
| chr1:144925727 | AAAAG | A | 15 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(12): Show |
15 | HG00673.hp2 HG00735.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.424-10977_424-1097 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | |||||||
| chr1:144925727 | AAAAGAAA others(1): Show |
A | 2 | a0001c0001t0001g0036 a0001c0001t0003g0022 |
2 | HG01952.hp1 HG02071.hp1 |
intron_variant | MODIFIER | c.424-10981_424-1097 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | |||||||
| chr1:144925900 | T | C | 4 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show |
4 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.424-11146A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925900 | |||||||
| chr1:144926023 | T | A | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.424-11269A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144926023 | |||||||
| chr1:144926151 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-11397T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144926151 | |||||||
| chr1:144926972 | C | T | 1 | a0008c0004t0005g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.424-12218G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144926972 | |||||||
| chr1:144927589 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-12835A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144927589 | |||||||
| chr1:144927990 | G | A | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.424-13236C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144927990 | |||||||
| chr1:144928242 | C | T | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.424-13488G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928242 | |||||||
| chr1:144928404 | GTTAT | G | 15 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0033 others(12): Show |
15 | HG01099.hp1 HG01952.hp1 HG02015.hp1 others(12): Show |
intron_variant | MODIFIER | c.424-13654_424-1365 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928404 | |||||||
| chr1:144928404 | GTTATTTA others(1): Show |
G | 15 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(12): Show |
15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.424-13658_424-1365 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928404 | |||||||
| chr1:144928404 | GTTATTTA others(5): Show |
G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-13662_424-1365 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928404 | |||||||
| chr1:144930800 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-16046G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144930800 | |||||||
| chr1:144930867 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-16113T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144930867 | |||||||
| chr1:144931255 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-16501G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931255 | |||||||
| chr1:144931517 | T | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-16763A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931517 | |||||||
| chr1:144931651 | C | T | 2 | a0001c0001t0001g0040 a0001c0001t0012g0051 |
2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.424-16897G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931651 | |||||||
| chr1:144931898 | T | C | 2 | a0001c0001t0001g0020 a0001c0001t0017g0043 |
2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.424-17144A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931898 | |||||||
| chr1:144931937 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-17183A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931937 | |||||||
| chr1:144932364 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-17610A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932364 | |||||||
| chr1:144932416 | G | C | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.424-17662C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932416 | |||||||
| chr1:144932662 | T | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.424-17908A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932662 | |||||||
| chr1:144932977 | G | A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.424-18223C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932977 | |||||||
| chr1:144933479 | G | A | 2 | a0001c0001t0001g0009 a0001c0001t0001g0015 |
2 | HG02602.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.424-18725C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144933479 | |||||||
| chr1:144933582 | C | A | 2 | a0001c0001t0001g0009 a0001c0001t0001g0015 |
2 | HG02602.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.424-18828G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144933582 | |||||||
| chr1:144933791 | G | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.424-19037C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144933791 | |||||||
| chr1:144934099 | G | A | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.424-19345C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144934099 | |||||||
| chr1:144934953 | G | A | 1 | a0001c0001t0001g0032 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.424-20199C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144934953 | |||||||
| chr1:144935541 | G | T | 1 | a0001c0001t0003g0016 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.423+19898C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144935541 | |||||||
| chr1:144935922 | A | C | 4 | a0001c0001t0008g0005 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.423+19517T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144935922 | |||||||
| chr1:144936100 | T | C | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.423+19339A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144936100 | |||||||
| chr1:144936242 | G | T | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.423+19197C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144936242 | |||||||
| chr1:144936947 | C | T | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.423+18492G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144936947 | |||||||
| chr1:144938026 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.423+17413C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144938026 | |||||||
| chr1:144938711 | G | C | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.423+16728C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144938711 | |||||||
| chr1:144938790 | G | A | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.423+16649C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144938790 | |||||||
| chr1:144939339 | A | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+16100T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144939339 | |||||||
| chr1:144939382 | A | G | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.423+16057T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144939382 | |||||||
| chr1:144940431 | C | T | 14 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(11): Show |
14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.423+15008G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940431 | |||||||
| chr1:144940580 | C | G | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.423+14859G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940580 | |||||||
| chr1:144940728 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.423+14711C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940728 | |||||||
| chr1:144940751 | C | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.423+14688G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940751 | |||||||
| chr1:144940821 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.423+14618G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940821 | |||||||
| chr1:144941804 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+13635A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144941804 | |||||||
| chr1:144943095 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.423+12344C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144943095 | |||||||
| chr1:144943550 | G | A | 1 | a0001c0001t0002g0008 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.423+11889C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144943550 | |||||||
| chr1:144944586 | C | CA | 14 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(11): Show |
14 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.423+10852dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944586 | |||||||
| chr1:144944683 | T | TTTTA | 2 | a0001c0001t0001g0044 a0006c0006t0014g0007 |
2 | HG00735.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.423+10752_423+1075 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944683 | |||||||
| chr1:144944683 | TTTTA | T | 33 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(30): Show |
33 | HG00280.hp2 HG00673.hp1 HG00673.hp2 others(30): Show |
intron_variant | MODIFIER | c.423+10752_423+1075 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944683 | |||||||
| chr1:144944683 | TTTTATTT others(1): Show |
T | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.423+10748_423+1075 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944683 | |||||||
| chr1:144945590 | AAAAC | A | 5 | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0041 others(2): Show |
5 | HG00280.hp1 HG00280.hp2 HG00735.hp2 others(2): Show |
intron_variant | MODIFIER | c.423+9845_423+9848d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144945590 | |||||||
| chr1:144945841 | G | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+9598C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144945841 | |||||||
| chr1:144945842 | A | T | 2 | a0001c0001t0002g0002 a0001c0001t0002g0035 |
2 | HG02602.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.423+9597T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144945842 | |||||||
| chr1:144946726 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+8713C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144946726 | |||||||
| chr1:144946758 | T | A | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.423+8681A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144946758 | |||||||
| chr1:144947007 | A | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+8432T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144947007 | |||||||
| chr1:144947447 | A | C | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.423+7992T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144947447 | |||||||
| chr1:144948442 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.423+6997G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144948442 | |||||||
| chr1:144948909 | C | CT | 4 | a0001c0001t0002g0017 a0001c0001t0007g0011 a0001c0001t0015g0010 others(1): Show |
4 | HG01346.hp1 HG02071.hp2 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.423+6529dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144948909 | |||||||
| chr1:144949199 | A | G | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.423+6240T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144949199 | |||||||
| chr1:144949785 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+5654G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144949785 | |||||||
| chr1:144950128 | T | C | 42 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(39): Show |
42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.423+5311A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950128 | |||||||
| chr1:144950430 | C | T | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.423+5009G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950430 | |||||||
| chr1:144950585 | A | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.423+4854T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950585 | |||||||
| chr1:144950781 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+4658A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950781 | |||||||
| chr1:144950862 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+4577A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950862 | |||||||
| chr1:144952092 | C | G | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.423+3347G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952092 | |||||||
| chr1:144952108 | A | T | 42 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(39): Show |
42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.423+3331T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952108 | |||||||
| chr1:144952805 | AACTTTTA others(20): Show |
A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.423+2607_423+2633d others(29): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952805 | |||||||
| chr1:144952834 | C | G | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.423+2605G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952834 | |||||||
| chr1:144952945 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.423+2494T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952945 | |||||||
| chr1:144953018 | A | G | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.423+2421T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953018 | |||||||
| chr1:144953415 | T | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+2024A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953415 | |||||||
| chr1:144953575 | C | T | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.423+1864G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953575 | |||||||
| chr1:144953859 | A | G | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.423+1580T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953859 | |||||||
| chr1:144953904 | T | C | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.423+1535A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953904 | |||||||
| chr1:144954174 | G | A | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.423+1265C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954174 | |||||||
| chr1:144954260 | C | G | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.423+1179G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954260 | |||||||
| chr1:144954811 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.423+628C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954811 | |||||||
| chr1:144954948 | C | A | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.423+491G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954948 | |||||||
| chr1:144955398 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+41A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144955398 | |||||||
| chr1:144956166 | C | A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.261-565G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144956166 | |||||||
| chr1:144956439 | C | CT | 16 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 others(13): Show |
16 | HG00280.hp1 HG00735.hp1 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.261-839dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144956439 | |||||||
| chr1:144956870 | A | G | 1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.261-1269T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144956870 | |||||||
| chr1:144957328 | T | C | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.261-1727A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957328 | |||||||
| chr1:144957654 | GA | G | 6 | a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0047 others(3): Show |
6 | HG01978.hp1 HG02135.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.261-2054delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957654 | |||||||
| chr1:144957742 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.261-2141G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957742 | |||||||
| chr1:144957945 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-2344T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957945 | |||||||
| chr1:144957946 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-2345A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957946 | |||||||
| chr1:144958795 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-3194C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144958795 | |||||||
| chr1:144960093 | T | C | 1 | a0002c0002t0010g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.261-4492A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144960093 | |||||||
| chr1:144961476 | T | C | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.261-5875A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144961476 | |||||||
| chr1:144961799 | T | C | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.261-6198A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144961799 | |||||||
| chr1:144961938 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-6337T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144961938 | |||||||
| chr1:144962679 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-7078A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144962679 | |||||||
| chr1:144962844 | C | T | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.261-7243G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144962844 | |||||||
| chr1:144963006 | C | T | 14 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(11): Show |
14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.261-7405G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144963006 | |||||||
| chr1:144963024 | T | G | 1 | a0009c0009t0003g0014 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.261-7423A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144963024 | |||||||
| chr1:144963161 | T | C | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.261-7560A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144963161 | |||||||
| chr1:144964374 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.261-8773A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144964374 | |||||||
| chr1:144965001 | G | A | 1 | a0001c0001t0003g0016 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.261-9400C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965001 | |||||||
| chr1:144965394 | C | T | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.261-9793G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965394 | |||||||
| chr1:144965405 | T | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-9804A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965405 | |||||||
| chr1:144965520 | G | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.261-9919C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965520 | |||||||
| chr1:144965527 | T | A | 4 | a0001c0001t0001g0019 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG01952.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.261-9926A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965527 | |||||||
| chr1:144965591 | C | T | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.261-9990G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965591 | |||||||
| chr1:144965621 | C | T | 22 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(19): Show |
22 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.261-10020G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965621 | |||||||
| chr1:144965622 | G | T | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.261-10021C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965622 | |||||||
| chr1:144965698 | T | C | 42 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(39): Show |
42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.261-10097A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965698 | |||||||
| chr1:144965834 | G | A | 14 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(11): Show |
14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.261-10233C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965834 | |||||||
| chr1:144966175 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10574T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966175 | |||||||
| chr1:144966197 | A | G | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.261-10596T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966197 | |||||||
| chr1:144966296 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10695C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966296 | |||||||
| chr1:144966492 | T | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10891A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966492 | |||||||
| chr1:144966526 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10925T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966526 | |||||||
| chr1:144966535 | A | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10934T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966535 | |||||||
| chr1:144966542 | C | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10941G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966542 | |||||||
| chr1:144966545 | T | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10944A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966545 | |||||||
| chr1:144966552 | C | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10951G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966552 | |||||||
| chr1:144966561 | T | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10960A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966561 | |||||||
| chr1:144966562 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10961C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966562 | |||||||
| chr1:144966587 | T | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10986A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966587 | |||||||
| chr1:144966590 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10989T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966590 | |||||||
| chr1:144966597 | A | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10996T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966597 | |||||||
| chr1:144966598 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10997C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966598 | |||||||
| chr1:144966640 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11039T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966640 | |||||||
| chr1:144966648 | C | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11047G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966648 | |||||||
| chr1:144966649 | C | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11048G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966649 | |||||||
| chr1:144966664 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11063C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966664 | |||||||
| chr1:144966671 | G | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11070C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966671 | |||||||
| chr1:144966698 | A | AG | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11098_261-1109 others(5): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966698 | |||||||
| chr1:144966699 | A | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11098T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966699 | |||||||
| chr1:144967231 | G | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.261-11630C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144967231 | |||||||
| chr1:144967404 | C | T | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.261-11803G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144967404 | |||||||
| chr1:144967449 | C | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11848G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144967449 | |||||||
| chr1:144968434 | A | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-12833T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144968434 | |||||||
| chr1:144968639 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-13038G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144968639 | |||||||
| chr1:144969339 | A | G | 4 | a0001c0001t0008g0005 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.261-13738T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144969339 | |||||||
| chr1:144970215 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-14614A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970215 | |||||||
| chr1:144970270 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-14669C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970270 | |||||||
| chr1:144970382 | T | A | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.261-14781A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970382 | |||||||
| chr1:144970503 | G | C | 1 | a0001c0001t0001g0040 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.261-14902C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970503 | |||||||
| chr1:144970645 | T | TA | 52 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 others(49): Show |
52 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.261-15045dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970645 | |||||||
| chr1:144971092 | A | C | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.261-15491T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971092 | |||||||
| chr1:144971650 | C | G | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.261-16049G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971650 | |||||||
| chr1:144971833 | A | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.261-16232T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971833 | |||||||
| chr1:144972607 | G | A | 1 | a0001c0001t0001g0006 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.261-17006C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144972607 | |||||||
| chr1:144973248 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-17647C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144973248 | |||||||
| chr1:144973792 | G | C | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.261-18191C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144973792 | |||||||
| chr1:144974218 | T | C | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.261-18617A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144974218 | |||||||
| chr1:144974548 | A | G | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.261-18947T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144974548 | |||||||
| chr1:144974861 | A | AGATGCTG others(5): Show |
2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-19272_261-1926 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144974861 | |||||||
| chr1:144975025 | T | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-19424A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144975025 | |||||||
| chr1:144975296 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-19695T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144975296 | |||||||
| chr1:144975868 | CT | C | 47 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(44): Show |
47 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(44): Show |
intron_variant | MODIFIER | c.260+19139delA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144975868 | |||||||
| chr1:144976176 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+18832T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144976176 | |||||||
| chr1:144976645 | C | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+18363G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144976645 | |||||||
| chr1:144977360 | G | T | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.260+17648C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977360 | |||||||
| chr1:144977504 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+17504G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977504 | |||||||
| chr1:144977510 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+17498G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977510 | |||||||
| chr1:144977531 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+17477C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977531 | |||||||
| chr1:144978344 | G | A | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.260+16664C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144978344 | |||||||
| chr1:144978371 | G | A | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.260+16637C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144978371 | |||||||
| chr1:144978808 | G | A | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.260+16200C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144978808 | |||||||
| chr1:144979165 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+15843G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979165 | |||||||
| chr1:144979357 | G | A | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.260+15651C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979357 | |||||||
| chr1:144979433 | G | A | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+15575C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979433 | |||||||
| chr1:144979696 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.260+15312G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979696 | |||||||
| chr1:144979707 | G | A | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.260+15301C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979707 | |||||||
| chr1:144980988 | A | G | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.260+14020T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144980988 | |||||||
| chr1:144981148 | G | A | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.260+13860C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981148 | |||||||
| chr1:144981704 | T | C | 14 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(11): Show |
14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.260+13304A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981704 | |||||||
| chr1:144981722 | T | C | 14 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(11): Show |
14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.260+13286A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981722 | |||||||
| chr1:144981802 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+13206C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981802 | |||||||
| chr1:144983089 | T | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+11919A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144983089 | |||||||
| chr1:144983255 | T | A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.260+11753A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144983255 | |||||||
| chr1:144984116 | C | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+10892G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984116 | |||||||
| chr1:144984332 | A | AAAC | 18 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(15): Show |
18 | HG00673.hp2 HG01099.hp1 HG01346.hp1 others(15): Show |
intron_variant | MODIFIER | c.260+10673_260+1067 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984332 | |||||||
| chr1:144984332 | A | AAACAAC | 3 | a0001c0001t0002g0004 a0001c0001t0007g0011 a0001c0001t0017g0043 |
3 | HG02257.hp1 NA18941.hp1 NA18941.hp2 |
intron_variant | MODIFIER | c.260+10670_260+1067 others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984332 | |||||||
| chr1:144984362 | C | CAAA | 3 | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0036 |
3 | HG00280.hp2 HG02071.hp1 HG02129.hp1 |
intron_variant | MODIFIER | c.260+10645_260+1064 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984362 | |||||||
| chr1:144984362 | CAACAAAA others(4): Show |
C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+10635_260+1064 others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984362 | |||||||
| chr1:144984365 | C | A | 3 | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0036 |
3 | HG00280.hp2 HG02071.hp1 HG02129.hp1 |
intron_variant | MODIFIER | c.260+10643G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984365 | |||||||
| chr1:144984365 | C | CAAA | 15 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 others(12): Show |
15 | HG00735.hp1 HG01099.hp2 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.260+10640_260+1064 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984365 | |||||||
| chr1:144984365 | C | CAAAA | 4 | a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0050 others(1): Show |
4 | HG00280.hp1 HG00735.hp2 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.260+10639_260+1064 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984365 | |||||||
| chr1:144984367 | A | ACAAC | 2 | a0001c0001t0001g0052 a0001c0001t0008g0005 |
2 | HG02257.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.260+10640_260+1064 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984367 | |||||||
| chr1:144984368 | A | C | 4 | a0001c0001t0001g0049 a0001c0001t0003g0022 a0003c0003t0004g0054 others(1): Show |
4 | HG01952.hp1 HG02523.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.260+10640T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984368 | |||||||
| chr1:144985596 | G | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+9412C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144985596 | |||||||
| chr1:144987351 | T | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+7657A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144987351 | |||||||
| chr1:144987890 | G | T | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+7118C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144987890 | |||||||
| chr1:144988323 | A | G | 1 | a0002c0002t0011g0028 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.260+6685T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988323 | |||||||
| chr1:144988651 | T | C | 1 | a0001c0001t0003g0016 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.260+6357A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988651 | |||||||
| chr1:144988999 | CT | C | 28 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(25): Show |
28 | HG00673.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.260+6008delA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988999 | |||||||
| chr1:144988999 | CTT | C | 24 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(21): Show |
24 | HG00280.hp1 HG00280.hp2 HG00673.hp2 others(21): Show |
intron_variant | MODIFIER | c.260+6007_260+6008d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988999 | |||||||
| chr1:144989360 | G | A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.260+5648C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144989360 | |||||||
| chr1:144990691 | G | A | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+4317C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144990691 | |||||||
| chr1:144991075 | C | T | 2 | a0001c0001t0001g0020 a0001c0001t0017g0043 |
2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.260+3933G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144991075 | |||||||
| chr1:144991517 | A | G | 2 | a0001c0001t0001g0026 a0004c0005t0006g0053 |
2 | HG01175.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.260+3491T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144991517 | |||||||
| chr1:144992177 | A | T | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.260+2831T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144992177 | |||||||
| chr1:144992718 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.260+2290G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144992718 | |||||||
| chr1:144992940 | A | T | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+2068T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144992940 | |||||||
| chr1:144993153 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.260+1855C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144993153 | |||||||
| chr1:144993565 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.260+1443C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144993565 | |||||||
| chr1:144994544 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.260+464C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994544 | |||||||
| chr1:144994551 | A | AGT | 5 | a0001c0001t0002g0017 a0001c0001t0015g0010 a0005c0008t0005g0039 others(2): Show |
5 | HG01346.hp1 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.260+455_260+456dup others(2): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994551 | |||||||
| chr1:144994560 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.260+448C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994560 | |||||||
| chr1:144994567 | T | TGTGAGAG others(3): Show |
1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.260+440_260+441ins others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | |||||||
| chr1:144994567 | TGA | T | 19 | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0029 others(16): Show |
19 | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(16): Show |
intron_variant | MODIFIER | c.260+439_260+440del others(2): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | |||||||
| chr1:144994567 | TGAGA | T | 18 | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(15): Show |
18 | HG00280.hp1 HG00673.hp2 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.260+437_260+440del others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | |||||||
| chr1:144994567 | TGAGAGAG others(1): Show |
T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0036 |
2 | HG01952.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.260+433_260+440del others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | |||||||
| chr1:144994569 | A | T | 8 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0033 others(5): Show |
8 | HG02015.hp2 HG02129.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.260+439T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994569 | |||||||
| chr1:144994571 | A | T | 21 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0024 others(18): Show |
21 | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.260+437T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994571 | |||||||
| chr1:144994573 | A | T | 36 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 others(33): Show |
36 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.260+435T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994573 | |||||||
| chr1:144994575 | A | T | 23 | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(20): Show |
23 | HG00280.hp1 HG00673.hp2 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.260+433T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994575 | |||||||
| chr1:144994577 | A | T | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0036 others(1): Show |
4 | HG01109.hp1 HG01952.hp2 HG02071.hp1 others(1): Show |
intron_variant | MODIFIER | c.260+431T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994577 | |||||||
| chr1:144994579 | A | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0036 |
2 | HG01952.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.260+429T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994579 | |||||||
| chr1:144995672 | A | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-472T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144995672 | |||||||
| chr1:144995813 | C | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-613G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144995813 | |||||||
| chr1:144995916 | A | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-716T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144995916 | |||||||
| chr1:144996236 | G | A | 2 | a0001c0001t0001g0020 a0001c0001t0017g0043 |
2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-1036C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996236 | |||||||
| chr1:144996512 | C | A | 2 | a0001c0001t0001g0020 a0001c0001t0017g0043 |
2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-1312G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996512 | |||||||
| chr1:144996574 | T | C | 3 | a0001c0001t0001g0024 a0002c0002t0010g0023 a0002c0002t0011g0028 |
3 | HG00673.hp1 HG02015.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.68-1374A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996574 | |||||||
| chr1:144996853 | C | A | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.68-1653G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996853 | |||||||
| chr1:144997418 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-2218T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144997418 | |||||||
| chr1:144999644 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.68-4444C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144999644 | |||||||
| chr1:144999696 | T | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-4496A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144999696 | |||||||
| chr1:144999929 | T | G | 12 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(9): Show |
12 | HG00673.hp2 HG01952.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.68-4729A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144999929 | |||||||
| chr1:145000030 | G | A | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.68-4830C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145000030 | |||||||
| chr1:145000778 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-5578G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145000778 | |||||||
| chr1:145000982 | A | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-5782T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145000982 | |||||||
| chr1:145001513 | A | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.68-6313T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145001513 | |||||||
| chr1:145002320 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.68-7120C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002320 | |||||||
| chr1:145002436 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.68-7236G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002436 | |||||||
| chr1:145002512 | T | C | 42 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(39): Show |
42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.68-7312A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002512 | |||||||
| chr1:145002818 | T | C | 2 | a0001c0001t0002g0035 a0001c0001t0016g0038 |
2 | HG02602.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.68-7618A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002818 | |||||||
| chr1:145002958 | G | C | 3 | a0001c0001t0009g0046 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG01109.hp1 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-7758C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002958 | |||||||
| chr1:145003372 | A | G | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.68-8172T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145003372 | |||||||
| chr1:145003829 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-8629A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145003829 | |||||||
| chr1:145004579 | G | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-9379C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145004579 | |||||||
| chr1:145004716 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.68-9516C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145004716 | |||||||
| chr1:145004935 | G | T | 1 | a0001c0001t0001g0027 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.68-9735C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145004935 | |||||||
| chr1:145005151 | A | G | 7 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(4): Show |
7 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.68-9951T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145005151 | |||||||
| chr1:145006298 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-11098G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145006298 | |||||||
| chr1:145006364 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-11164A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145006364 | |||||||
| chr1:145007802 | C | CT | 5 | a0001c0001t0001g0052 a0001c0001t0016g0038 a0003c0003t0004g0054 others(2): Show |
5 | HG02615.hp1 HG02615.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-12603dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145007802 | |||||||
| chr1:145007837 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-12637G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145007837 | |||||||
| chr1:145008686 | TTC | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-13488_68-13487d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145008686 | |||||||
| chr1:145008899 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-13699G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145008899 | |||||||
| chr1:145008947 | G | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.68-13747C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145008947 | |||||||
| chr1:145009176 | CA | C | 5 | a0001c0001t0001g0040 a0001c0001t0007g0011 a0003c0003t0004g0054 others(2): Show |
5 | HG01099.hp1 HG02615.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.68-13977delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009176 | |||||||
| chr1:145009363 | C | T | 2 | a0001c0001t0015g0010 a0009c0009t0003g0014 |
2 | HG01346.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.68-14163G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009363 | |||||||
| chr1:145009587 | C | CA | 4 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0047 others(1): Show |
4 | HG01175.hp2 HG01978.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-14388dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009587 | |||||||
| chr1:145009749 | T | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-14549A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009749 | |||||||
| chr1:145010254 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-15054T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145010254 | |||||||
| chr1:145010657 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.68-15457G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145010657 | |||||||
| chr1:145011448 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-16248T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145011448 | |||||||
| chr1:145012005 | G | A | 15 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(12): Show |
15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.68-16805C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012005 | |||||||
| chr1:145012628 | A | C | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.68-17428T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012628 | |||||||
| chr1:145012804 | G | T | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.68-17604C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012804 | |||||||
| chr1:145012924 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-17724C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012924 | |||||||
| chr1:145013189 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-17989G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013189 | |||||||
| chr1:145013224 | C | T | 5 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0002c0002t0001g0031 others(2): Show |
5 | HG00673.hp1 HG02015.hp2 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.68-18024G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013224 | |||||||
| chr1:145013375 | T | C | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.68-18175A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013375 | |||||||
| chr1:145013481 | T | G | 1 | a0001c0001t0001g0032 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.68-18281A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013481 | |||||||
| chr1:145014174 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-18974G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145014174 | |||||||
| chr1:145014292 | C | A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-19092G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145014292 | |||||||
| chr1:145015081 | A | AT | 5 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 others(2): Show |
5 | HG01258.hp2 HG02129.hp2 NA18941.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-19882dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145015081 | |||||||
| chr1:145016851 | T | G | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.68-21651A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145016851 | |||||||
| chr1:145016852 | T | G | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.68-21652A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145016852 | |||||||
| chr1:145016853 | T | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-21653A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145016853 | |||||||
| chr1:145017247 | T | C | 1 | a0001c0001t0001g0037 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.68-22047A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145017247 | |||||||
| chr1:145017711 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-22511C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145017711 | |||||||
| chr1:145018167 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.68-22967C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018167 | |||||||
| chr1:145018442 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-23242G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018442 | |||||||
| chr1:145018793 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-23593G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018793 | |||||||
| chr1:145018829 | T | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-23629A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018829 | |||||||
| chr1:145018861 | T | A | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-23661A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018861 | |||||||
| chr1:145018891 | G | A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-23691C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018891 | |||||||
| chr1:145019179 | CA | C | 46 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(43): Show |
46 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.68-23980delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145019179 | |||||||
| chr1:145019362 | A | C | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.68-24162T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145019362 | |||||||
| chr1:145019834 | C | T | 1 | a0005c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.68-24634G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145019834 | |||||||
| chr1:145020680 | C | CA | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-25481dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145020680 | |||||||
| chr1:145020913 | C | T | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.68-25713G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145020913 | |||||||
| chr1:145021563 | C | G | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.68-26363G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145021563 | |||||||
| chr1:145021718 | G | A | 2 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | HG01099.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.68-26518C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145021718 | |||||||
| chr1:145021814 | C | CA | 5 | a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0017g0043 others(2): Show |
5 | HG01175.hp1 HG01978.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-26615dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145021814 | |||||||
| chr1:145022326 | A | AC | 4 | a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0003g0022 others(1): Show |
4 | HG01952.hp1 HG03669.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-27127dupG | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022326 | |||||||
| chr1:145022465 | G | C | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.68-27265C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022465 | |||||||
| chr1:145022579 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-27379G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022579 | |||||||
| chr1:145022597 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-27397A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022597 | |||||||
| chr1:145022680 | A | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-27480T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022680 | |||||||
| chr1:145023495 | T | C | 7 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-28295A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145023495 | |||||||
| chr1:145023724 | T | C | 7 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-28524A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145023724 | |||||||
| chr1:145023753 | G | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-28553C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145023753 | |||||||
| chr1:145024024 | G | A | 2 | a0001c0001t0015g0010 a0009c0009t0003g0014 |
2 | HG01346.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.68-28824C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145024024 | |||||||
| chr1:145024307 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-29107G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145024307 | |||||||
| chr1:145024486 | C | T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | HG01099.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.68-29286G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145024486 | |||||||
| chr1:145025822 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-30622C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145025822 | |||||||
| chr1:145025991 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-30791G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145025991 | |||||||
| chr1:145026425 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-31225A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145026425 | |||||||
| chr1:145026707 | A | G | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.68-31507T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145026707 | |||||||
| chr1:145026906 | G | A | 1 | a0002c0002t0001g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.68-31706C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145026906 | |||||||
| chr1:145027011 | A | AT | 9 | a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0056 others(6): Show |
9 | HG01346.hp2 HG01952.hp1 HG01978.hp2 others(6): Show |
intron_variant | MODIFIER | c.68-31812dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027011 | |||||||
| chr1:145027099 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-31899G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027099 | |||||||
| chr1:145027240 | T | C | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-32040A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027240 | |||||||
| chr1:145027451 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-32251C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027451 | |||||||
| chr1:145027924 | C | G | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.68-32724G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027924 | |||||||
| chr1:145028196 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-32996T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145028196 | |||||||
| chr1:145029784 | T | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-34584A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145029784 | |||||||
| chr1:145029958 | T | C | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.68-34758A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145029958 | |||||||
| chr1:145030396 | A | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-35196T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030396 | |||||||
| chr1:145030430 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.68-35230G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030430 | |||||||
| chr1:145030696 | T | C | 1 | a0008c0004t0005g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.68-35496A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030696 | |||||||
| chr1:145030703 | TA | T | 4 | a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0047 others(1): Show |
4 | HG01978.hp1 HG01978.hp2 HG02135.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-35504delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030703 | |||||||
| chr1:145030706 | AAAAAAAA others(10): Show |
A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-35523_68-35507d others(19): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030706 | |||||||
| chr1:145030712 | AAAAAAAA others(6): Show |
A | 1 | a0002c0002t0001g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.68-35525_68-35513d others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030712 | |||||||
| chr1:145030717 | A | T | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.68-35517T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030717 | |||||||
| chr1:145030719 | A | T | 2 | a0001c0001t0001g0021 a0001c0001t0001g0047 |
2 | HG01978.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.68-35519T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030719 | |||||||
| chr1:145030719 | AAAATATA others(3): Show |
A | 1 | a0001c0001t0001g0024 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.68-35529_68-35520d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030719 | |||||||
| chr1:145030720 | AAATATAT | A | 4 | a0001c0001t0002g0017 a0001c0001t0003g0016 a0001c0001t0013g0025 others(1): Show |
4 | HG01346.hp2 HG02071.hp2 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-35527_68-35521d others(9): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030720 | |||||||
| chr1:145030720 | AAATATAT others(4): Show |
A | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.68-35531_68-35521d others(13): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030720 | |||||||
| chr1:145030720 | AAATATAT others(8): Show |
A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-35535_68-35521d others(17): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030720 | |||||||
| chr1:145030721 | A | T | 8 | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0047 others(5): Show |
8 | HG01258.hp1 HG01978.hp1 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.68-35521T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | |||||||
| chr1:145030721 | AATATAT | A | 4 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show |
4 | HG01099.hp2 HG01109.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.68-35527_68-35522d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | |||||||
| chr1:145030721 | AATATATA others(1): Show |
A | 4 | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0033 others(1): Show |
4 | HG00735.hp1 HG02129.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-35529_68-35522d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | |||||||
| chr1:145030721 | AATATATA others(3): Show |
A | 2 | a0002c0002t0001g0031 a0006c0006t0014g0007 |
2 | HG02083.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.68-35531_68-35522d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | |||||||
| chr1:145030722 | ATATATAT | A | 2 | a0001c0001t0001g0032 a0001c0001t0002g0002 |
2 | HG00280.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.68-35529_68-35523d others(9): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030722 | |||||||
| chr1:145030722 | ATATATAT others(6): Show |
A | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.68-35535_68-35523d others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030722 | |||||||
| chr1:145030729 | T | A | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0008c0004t0005g0012 |
3 | HG01099.hp2 HG01109.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.68-35529A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030729 | |||||||
| chr1:145030731 | T | A | 8 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
8 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(5): Show |
intron_variant | MODIFIER | c.68-35531A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030731 | |||||||
| chr1:145030733 | T | A | 3 | a0001c0001t0001g0027 a0001c0001t0002g0002 a0008c0004t0005g0012 |
3 | HG00735.hp1 HG03490.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.68-35533A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030733 | |||||||
| chr1:145030735 | T | A | 1 | a0008c0004t0005g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.68-35535A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030735 | |||||||
| chr1:145030991 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-35791G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030991 | |||||||
| chr1:145031278 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-36078A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031278 | |||||||
| chr1:145031307 | A | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-36107T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031307 | |||||||
| chr1:145031494 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-36294T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031494 | |||||||
| chr1:145031707 | A | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-36507T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031707 | |||||||
| chr1:145031764 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-36564C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031764 | |||||||
| chr1:145031957 | A | C | 6 | a0001c0001t0001g0018 a0001c0001t0002g0003 a0001c0001t0002g0008 others(3): Show |
6 | HG01258.hp2 HG02083.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.68-36757T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031957 | |||||||
| chr1:145031959 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-36759A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031959 | |||||||
| chr1:145031986 | T | C | 1 | a0001c0001t0001g0041 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.68-36786A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031986 | |||||||
| chr1:145032136 | G | A | 2 | a0001c0001t0001g0020 a0001c0001t0017g0043 |
2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-36936C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145032136 | |||||||
| chr1:145032466 | A | G | 4 | a0001c0001t0001g0024 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02015.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-37266T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145032466 | |||||||
| chr1:145034207 | A | G | 6 | a0001c0001t0001g0018 a0001c0001t0002g0003 a0001c0001t0002g0008 others(3): Show |
6 | HG01258.hp2 HG02083.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.68-39007T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034207 | |||||||
| chr1:145034475 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-39275A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034475 | |||||||
| chr1:145034526 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.68-39326C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034526 | |||||||
| chr1:145034696 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-39496T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034696 | |||||||
| chr1:145034757 | G | A | 2 | a0001c0001t0001g0020 a0001c0001t0017g0043 |
2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-39557C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034757 | |||||||
| chr1:145034930 | T | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-39730A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034930 | |||||||
| chr1:145035241 | A | C | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.68-40041T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035241 | |||||||
| chr1:145035328 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40128A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035328 | |||||||
| chr1:145035554 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40354G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035554 | |||||||
| chr1:145035765 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-40565C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035765 | |||||||
| chr1:145035841 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40641A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035841 | |||||||
| chr1:145036085 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40885T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036085 | |||||||
| chr1:145036171 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40971G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036171 | |||||||
| chr1:145036262 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-41062A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036262 | |||||||
| chr1:145036348 | C | CTT | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-41149_68-41148i others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036348 | |||||||
| chr1:145036514 | C | CA | 40 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(37): Show |
40 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.68-41315dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036514 | |||||||
| chr1:145036648 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-41448G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036648 | |||||||
| chr1:145037132 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-41932G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145037132 | |||||||
| chr1:145037544 | T | C | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.68-42344A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145037544 | |||||||
| chr1:145038294 | A | G | 24 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 others(21): Show |
24 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.68-43094T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038294 | |||||||
| chr1:145038311 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-43111G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038311 | |||||||
| chr1:145038666 | T | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-43466A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038666 | |||||||
| chr1:145038797 | G | A | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.68-43597C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038797 | |||||||
| chr1:145038841 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-43641C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038841 | |||||||
| chr1:145039609 | G | T | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.68-44409C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145039609 | |||||||
| chr1:145040290 | G | T | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.68-45090C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145040290 | |||||||
| chr1:145040472 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45272G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145040472 | |||||||
| chr1:145040871 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45671G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145040871 | |||||||
| chr1:145041026 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45826A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041026 | |||||||
| chr1:145041066 | ATATATAT others(2): Show |
A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45875_68-45867d others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041066 | |||||||
| chr1:145041075 | G | GTA | 13 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0002g0003 others(10): Show |
13 | HG01175.hp1 HG01258.hp2 HG01346.hp1 others(10): Show |
intron_variant | MODIFIER | c.68-45877_68-45876d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | |||||||
| chr1:145041075 | G | GTATA | 14 | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0021 others(11): Show |
14 | HG00673.hp2 HG01099.hp1 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.68-45879_68-45876d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | |||||||
| chr1:145041075 | G | GTATATA | 5 | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0002g0002 others(2): Show |
5 | HG03831.hp1 NA18941.hp1 NA18946.hp2 others(2): Show |
intron_variant | MODIFIER | c.68-45881_68-45876d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | |||||||
| chr1:145041075 | G | GTATATAT others(1): Show |
2 | a0001c0001t0001g0044 a0005c0008t0005g0039 |
2 | HG00735.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.68-45883_68-45876d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | |||||||
| chr1:145041075 | G | GTATATAT others(3): Show |
2 | a0001c0001t0001g0050 a0001c0001t0002g0008 |
2 | HG00280.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.68-45885_68-45876d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | |||||||
| chr1:145041075 | G | GTATATAT others(9): Show |
1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-45891_68-45876d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | |||||||
| chr1:145041357 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46157G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041357 | |||||||
| chr1:145041444 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46244T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041444 | |||||||
| chr1:145041806 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46606T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041806 | |||||||
| chr1:145042044 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46844A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042044 | |||||||
| chr1:145042230 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-47030T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042230 | |||||||
| chr1:145042537 | T | A | 41 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 others(38): Show |
41 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.68-47337A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042537 | |||||||
| chr1:145042558 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-47358C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042558 | |||||||
| chr1:145042677 | T | A | 52 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 others(49): Show |
52 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.68-47477A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042677 | |||||||
| chr1:145042935 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-47735A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042935 | |||||||
| chr1:145044428 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0016g0038 |
2 | HG02602.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.67+48407A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044428 | |||||||
| chr1:145044575 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48260A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044575 | |||||||
| chr1:145044593 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48242T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044593 | |||||||
| chr1:145044621 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48214A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044621 | |||||||
| chr1:145044650 | T | TAAA | 4 | a0001c0001t0001g0006 a0001c0001t0002g0004 a0001c0001t0002g0017 others(1): Show |
4 | HG02129.hp1 HG02129.hp2 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+48182_67+48184d others(5): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | T | TAAAAAAA others(9): Show |
1 | a0002c0002t0001g0031 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.67+48169_67+48184d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA | T | 4 | a0001c0001t0001g0033 a0001c0001t0002g0035 a0008c0004t0005g0012 others(1): Show |
4 | HG02602.hp1 HG03490.hp1 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+48178_67+48184d others(9): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(4): Show |
T | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+48174_67+48184d others(13): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(5): Show |
T | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.67+48173_67+48184d others(14): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(6): Show |
T | 3 | a0001c0001t0001g0027 a0001c0001t0008g0005 a0001c0001t0017g0043 |
3 | HG00735.hp1 HG02257.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.67+48172_67+48184d others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(7): Show |
T | 2 | a0001c0001t0001g0020 a0001c0001t0001g0030 |
2 | HG01109.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.67+48171_67+48184d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(8): Show |
T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0032 |
2 | HG00280.hp2 HG01099.hp2 |
intron_variant | MODIFIER | c.67+48170_67+48184d others(17): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(9): Show |
T | 2 | a0001c0001t0001g0037 a0007c0007t0018g0001 |
2 | HG02615.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.67+48169_67+48184d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(13): Show |
T | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.67+48165_67+48184d others(22): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(15): Show |
T | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+48163_67+48184d others(24): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(16): Show |
T | 1 | a0002c0002t0011g0028 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.67+48162_67+48184d others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(17): Show |
T | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.67+48161_67+48184d others(26): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(19): Show |
T | 2 | a0001c0001t0001g0026 a0001c0001t0003g0022 |
2 | HG01258.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.67+48159_67+48184d others(28): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044650 | TAAAAAAA others(21): Show |
T | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.67+48157_67+48184d others(30): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | |||||||
| chr1:145044709 | GCAAGA | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48121_67+48125d others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044709 | |||||||
| chr1:145045360 | G | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+47475C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145045360 | |||||||
| chr1:145045378 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+47457A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145045378 | |||||||
| chr1:145045921 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46914T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145045921 | |||||||
| chr1:145046023 | A | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46812T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046023 | |||||||
| chr1:145046275 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46560G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046275 | |||||||
| chr1:145046620 | A | AG | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46214_67+46215i others(3): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046620 | |||||||
| chr1:145046904 | G | A | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.67+45931C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046904 | |||||||
| chr1:145046938 | G | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+45897C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046938 | |||||||
| chr1:145047056 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+45779C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047056 | |||||||
| chr1:145047155 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+45680T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047155 | |||||||
| chr1:145047175 | C | CA | 12 | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0030 others(9): Show |
12 | HG00735.hp2 HG01109.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.67+45659dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047175 | |||||||
| chr1:145047175 | C | CAA | 11 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0037 others(8): Show |
11 | HG00673.hp2 HG01978.hp1 HG01978.hp2 others(8): Show |
intron_variant | MODIFIER | c.67+45658_67+45659d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047175 | |||||||
| chr1:145047307 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.67+45528C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047307 | |||||||
| chr1:145048164 | T | C | 2 | a0001c0001t0008g0005 a0001c0001t0009g0046 |
2 | HG01109.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.67+44671A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145048164 | |||||||
| chr1:145049816 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.67+43019A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145049816 | |||||||
| chr1:145050426 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+42409G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145050426 | |||||||
| chr1:145051186 | G | C | 5 | a0001c0001t0001g0021 a0001c0001t0008g0005 a0001c0001t0017g0043 others(2): Show |
5 | HG02015.hp1 HG02135.hp2 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.67+41649C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051186 | |||||||
| chr1:145051403 | A | G | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | HG01099.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.67+41432T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051403 | |||||||
| chr1:145051441 | C | T | 2 | a0001c0001t0009g0046 a0009c0009t0003g0014 |
2 | HG01109.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.67+41394G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051441 | |||||||
| chr1:145051865 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.67+40970G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051865 | |||||||
| chr1:145051930 | G | A | 1 | a0005c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+40905C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051930 | |||||||
| chr1:145052147 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40688G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052147 | |||||||
| chr1:145052306 | A | G | 2 | a0001c0001t0001g0037 a0001c0001t0001g0056 |
2 | HG02523.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.67+40529T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052306 | |||||||
| chr1:145052312 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40523G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052312 | |||||||
| chr1:145052348 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40487G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052348 | |||||||
| chr1:145052440 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40395G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052440 | |||||||
| chr1:145053200 | T | C | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.67+39635A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145053200 | |||||||
| chr1:145054085 | G | GA | 4 | a0001c0001t0001g0033 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02615.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+38749dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054085 | |||||||
| chr1:145054230 | T | A | 3 | a0001c0001t0001g0033 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG03490.hp2 HG03492.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.67+38605A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054230 | |||||||
| chr1:145054353 | C | T | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.67+38482G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054353 | |||||||
| chr1:145054462 | T | C | 1 | a0008c0004t0005g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.67+38373A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054462 | |||||||
| chr1:145054862 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+37973A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054862 | |||||||
| chr1:145054985 | T | A | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+37850A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054985 | |||||||
| chr1:145055036 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.67+37799C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145055036 | |||||||
| chr1:145055134 | C | T | 1 | a0001c0001t0001g0015 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.67+37701G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145055134 | |||||||
| chr1:145055407 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+37428T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145055407 | |||||||
| chr1:145056056 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+36779C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056056 | |||||||
| chr1:145056952 | A | AAC | 6 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0041 others(3): Show |
6 | HG00735.hp1 HG01952.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.67+35881_67+35882d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145056952 | A | AACAC | 4 | a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0012g0051 others(1): Show |
4 | HG02602.hp2 HG03669.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+35879_67+35882d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145056952 | AAC | A | 4 | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0013g0025 others(1): Show |
4 | HG00280.hp2 HG01346.hp2 HG02071.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+35881_67+35882d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145056952 | AACACAC | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35877_67+35882d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145056952 | AACACACA others(5): Show |
A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+35871_67+35882d others(14): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145056952 | AACACACA others(7): Show |
A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+35869_67+35882d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145056952 | AACACACA others(9): Show |
A | 1 | a0001c0001t0001g0037 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.67+35867_67+35882d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | |||||||
| chr1:145057162 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35673G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057162 | |||||||
| chr1:145057633 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35202G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057633 | |||||||
| chr1:145057688 | G | GT | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35146dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057688 | |||||||
| chr1:145057700 | G | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35135C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057700 | |||||||
| chr1:145057701 | T | G | 1 | a0001c0001t0002g0002 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.67+35134A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057701 | |||||||
| chr1:145057739 | T | C | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+35096A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057739 | |||||||
| chr1:145057770 | C | T | 1 | a0001c0001t0002g0002 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.67+35065G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057770 | |||||||
| chr1:145057786 | C | T | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.67+35049G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057786 | |||||||
| chr1:145058021 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34814G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058021 | |||||||
| chr1:145058089 | C | A | 3 | a0001c0001t0001g0045 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG00673.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34746G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058089 | |||||||
| chr1:145058129 | A | T | 3 | a0001c0001t0001g0045 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG00673.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34706T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058129 | |||||||
| chr1:145058214 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+34621G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058214 | |||||||
| chr1:145058288 | C | T | 3 | a0001c0001t0001g0045 a0003c0003t0004g0054 a0003c0003t0004g0055 |
3 | HG00673.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34547G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058288 | |||||||
| chr1:145058949 | A | G | 22 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 others(19): Show |
22 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.67+33886T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058949 | |||||||
| chr1:145058959 | G | A | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67+33876C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058959 | |||||||
| chr1:145059361 | G | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.67+33474C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145059361 | |||||||
| chr1:145059411 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+33424C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145059411 | |||||||
| chr1:145059835 | T | C | 3 | a0001c0001t0001g0006 a0001c0001t0001g0026 a0002c0002t0001g0031 |
3 | HG01258.hp1 HG02083.hp2 HG02129.hp1 |
intron_variant | MODIFIER | c.67+33000A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145059835 | |||||||
| chr1:145060452 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+32383G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145060452 | |||||||
| chr1:145060820 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+32015A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145060820 | |||||||
| chr1:145060898 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+31937C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145060898 | |||||||
| chr1:145061064 | G | C | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+31771C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145061064 | |||||||
| chr1:145061642 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+31193A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145061642 | |||||||
| chr1:145061783 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+31052G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145061783 | |||||||
| chr1:145062312 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0016g0038 |
2 | HG02602.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.67+30523A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145062312 | |||||||
| chr1:145062346 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.67+30489G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145062346 | |||||||
| chr1:145064290 | A | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+28545T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145064290 | |||||||
| chr1:145064756 | G | A | 4 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show |
4 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+28079C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145064756 | |||||||
| chr1:145065242 | A | G | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.67+27593T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145065242 | |||||||
| chr1:145066462 | C | G | 1 | a0002c0002t0001g0031 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.67+26373G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145066462 | |||||||
| chr1:145066582 | T | C | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+26253A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145066582 | |||||||
| chr1:145066854 | C | T | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+25981G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145066854 | |||||||
| chr1:145067267 | C | A | 10 | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 others(7): Show |
10 | HG00673.hp2 HG01978.hp1 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.67+25568G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145067267 | |||||||
| chr1:145067277 | A | C | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.67+25558T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145067277 | |||||||
| chr1:145067283 | T | C | 21 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show |
21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+25552A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145067283 | |||||||
| chr1:145068064 | G | A | 1 | a0005c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+24771C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068064 | |||||||
| chr1:145068202 | C | CA | 11 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0041 others(8): Show |
11 | HG00673.hp1 HG01175.hp1 HG01346.hp1 others(8): Show |
intron_variant | MODIFIER | c.67+24632dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068202 | |||||||
| chr1:145068855 | G | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+23980C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068855 | |||||||
| chr1:145068893 | ATG | A | 3 | a0001c0001t0001g0045 a0001c0001t0015g0010 a0001c0001t0017g0043 |
3 | HG00673.hp2 HG01346.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.67+23940_67+23941d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTG | A | 9 | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0002g0003 others(6): Show |
9 | HG01109.hp1 HG01258.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.67+23938_67+23941d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTGTG | A | 22 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 others(19): Show |
22 | HG00673.hp1 HG00735.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.67+23936_67+23941d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTGTGT others(1): Show |
A | 5 | a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0003g0016 others(2): Show |
5 | HG01099.hp1 HG02015.hp1 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.67+23934_67+23941d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTGTGT others(3): Show |
A | 7 | a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0050 others(4): Show |
7 | HG00280.hp1 HG00735.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.67+23932_67+23941d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTGTGT others(5): Show |
A | 3 | a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0008g0005 |
3 | HG01978.hp2 HG02257.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.67+23930_67+23941d others(14): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTGTGT others(7): Show |
A | 1 | a0001c0001t0001g0032 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.67+23928_67+23941d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068893 | ATGTGTGT others(15): Show |
A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+23920_67+23941d others(24): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | |||||||
| chr1:145068907 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+23928C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068907 | |||||||
| chr1:145068919 | G | A | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+23916C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068919 | |||||||
| chr1:145069231 | CTGAAGAG others(10): Show |
C | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.67+23587_67+23603d others(19): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069231 | |||||||
| chr1:145069241 | T | C | 2 | a0001c0001t0015g0010 a0007c0007t0018g0001 |
2 | HG01346.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.67+23594A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069241 | |||||||
| chr1:145069536 | T | A | 8 | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0041 others(5): Show |
8 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.67+23299A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069536 | |||||||
| chr1:145069798 | G | A | 12 | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 others(9): Show |
12 | HG00673.hp2 HG01109.hp1 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.67+23037C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069798 | |||||||
| chr1:145069889 | G | A | 2 | a0001c0001t0001g0049 a0007c0007t0018g0001 |
2 | HG02523.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.67+22946C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069889 | |||||||
| chr1:145070123 | G | A | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+22712C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145070123 | |||||||
| chr1:145070844 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.67+21991C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145070844 | |||||||
| chr1:145071441 | C | G | 14 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0024 others(11): Show |
14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.67+21394G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071441 | |||||||
| chr1:145071485 | A | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+21350T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071485 | |||||||
| chr1:145071509 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+21326T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071509 | |||||||
| chr1:145071586 | A | G | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.67+21249T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071586 | |||||||
| chr1:145071775 | G | A | 2 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | HG01099.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.67+21060C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071775 | |||||||
| chr1:145072073 | C | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.67+20762G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145072073 | |||||||
| chr1:145072456 | C | T | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67+20379G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145072456 | |||||||
| chr1:145072534 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+20301A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145072534 | |||||||
| chr1:145073190 | G | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+19645C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145073190 | |||||||
| chr1:145073356 | G | C | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.67+19479C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145073356 | |||||||
| chr1:145073548 | C | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+19287G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145073548 | |||||||
| chr1:145074165 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+18670C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074165 | |||||||
| chr1:145074276 | A | G | 1 | a0002c0002t0001g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.67+18559T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074276 | |||||||
| chr1:145074385 | C | T | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+18450G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074385 | |||||||
| chr1:145074490 | T | C | 1 | a0005c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+18345A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074490 | |||||||
| chr1:145074967 | G | A | 1 | a0001c0001t0001g0033 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.67+17868C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074967 | |||||||
| chr1:145075043 | C | A | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.67+17792G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075043 | |||||||
| chr1:145075088 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+17747T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075088 | |||||||
| chr1:145075187 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+17648C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075187 | |||||||
| chr1:145075793 | A | G | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.67+17042T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075793 | |||||||
| chr1:145075808 | C | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+17027G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075808 | |||||||
| chr1:145076124 | C | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+16711G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145076124 | |||||||
| chr1:145076382 | G | C | 1 | a0001c0001t0002g0002 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.67+16453C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145076382 | |||||||
| chr1:145076580 | G | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+16255C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145076580 | |||||||
| chr1:145077002 | T | C | 4 | a0001c0001t0008g0005 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+15833A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145077002 | |||||||
| chr1:145077074 | C | T | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+15761G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145077074 | |||||||
| chr1:145077457 | T | G | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.67+15378A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145077457 | |||||||
| chr1:145078021 | G | A | 21 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show |
21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+14814C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145078021 | |||||||
| chr1:145078622 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+14213C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145078622 | |||||||
| chr1:145079009 | C | A | 6 | a0001c0001t0001g0018 a0001c0001t0002g0003 a0001c0001t0002g0008 others(3): Show |
6 | HG01258.hp2 HG02083.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.67+13826G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079009 | |||||||
| chr1:145079244 | C | T | 3 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0012g0051 |
3 | HG01099.hp1 HG01978.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.67+13591G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079244 | |||||||
| chr1:145079320 | GA | G | 4 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 others(1): Show |
4 | HG02615.hp2 HG03490.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+13514delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079320 | |||||||
| chr1:145079712 | A | G | 1 | a0001c0001t0001g0027 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.67+13123T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079712 | |||||||
| chr1:145079871 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12964T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079871 | |||||||
| chr1:145079979 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12856G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079979 | |||||||
| chr1:145080091 | G | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12744C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080091 | |||||||
| chr1:145080165 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12670G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080165 | |||||||
| chr1:145080330 | C | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12505G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080330 | |||||||
| chr1:145080645 | G | A | 21 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show |
21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+12190C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080645 | |||||||
| chr1:145080722 | C | T | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12113G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080722 | |||||||
| chr1:145080744 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12091T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080744 | |||||||
| chr1:145080840 | G | C | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11995C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080840 | |||||||
| chr1:145080910 | T | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11925A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080910 | |||||||
| chr1:145080911 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11924T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080911 | |||||||
| chr1:145080974 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11861T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080974 | |||||||
| chr1:145081130 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11705T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081130 | |||||||
| chr1:145081270 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11565A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081270 | |||||||
| chr1:145081332 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11503G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081332 | |||||||
| chr1:145081611 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11224T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081611 | |||||||
| chr1:145081680 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11155T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081680 | |||||||
| chr1:145081889 | T | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.67+10946A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081889 | |||||||
| chr1:145082053 | AAAAC | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+10778_67+10781d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082053 | |||||||
| chr1:145082156 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+10679G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082156 | |||||||
| chr1:145082236 | G | C | 4 | a0001c0001t0008g0005 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+10599C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082236 | |||||||
| chr1:145082312 | T | C | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+10523A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082312 | |||||||
| chr1:145082490 | A | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+10345T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082490 | |||||||
| chr1:145083071 | T | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+9764A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083071 | |||||||
| chr1:145083110 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+9725A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083110 | |||||||
| chr1:145083120 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+9715T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083120 | |||||||
| chr1:145083220 | T | A | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+9615A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083220 | |||||||
| chr1:145083263 | G | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+9572C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083263 | |||||||
| chr1:145083509 | T | C | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.67+9326A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083509 | |||||||
| chr1:145084121 | T | G | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+8714A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084121 | |||||||
| chr1:145084143 | G | A | 1 | a0004c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.67+8692C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084143 | |||||||
| chr1:145084155 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+8680G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084155 | |||||||
| chr1:145084246 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.67+8589G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084246 | |||||||
| chr1:145084327 | CAGA | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+8505_67+8507del others(3): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084327 | |||||||
| chr1:145085013 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.67+7822C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085013 | |||||||
| chr1:145085034 | T | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+7801A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085034 | |||||||
| chr1:145085125 | A | G | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+7710T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085125 | |||||||
| chr1:145085247 | A | T | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.67+7588T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085247 | |||||||
| chr1:145085670 | C | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.67+7165G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085670 | |||||||
| chr1:145086213 | A | G | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+6622T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086213 | |||||||
| chr1:145086681 | GA | G | 4 | a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0002g0008 others(1): Show |
4 | HG01346.hp1 HG02015.hp2 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+6153delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086681 | |||||||
| chr1:145086696 | A | G | 1 | a0007c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+6139T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086696 | |||||||
| chr1:145086729 | A | G | 1 | a0002c0002t0010g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.67+6106T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086729 | |||||||
| chr1:145087026 | G | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+5809C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145087026 | |||||||
| chr1:145087214 | T | G | 15 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0024 others(12): Show |
15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.67+5621A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145087214 | |||||||
| chr1:145087225 | C | T | 2 | a0001c0001t0001g0009 a0001c0001t0002g0035 |
2 | HG02602.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.67+5610G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145087225 | |||||||
| chr1:145088236 | G | C | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+4599C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145088236 | |||||||
| chr1:145088928 | A | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+3907T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145088928 | |||||||
| chr1:145088929 | C | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+3906G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145088929 | |||||||
| chr1:145089990 | T | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+2845A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145089990 | |||||||
| chr1:145090110 | G | GAAGT | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+2721_67+2724dup others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090110 | |||||||
| chr1:145090233 | A | C | 1 | a0001c0001t0002g0008 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.67+2602T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090233 | |||||||
| chr1:145090286 | G | A | 1 | a0001c0001t0002g0035 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.67+2549C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090286 | |||||||
| chr1:145090321 | C | T | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+2514G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090321 | |||||||
| chr1:145090482 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.67+2353G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090482 | |||||||
| chr1:145090976 | A | G | 1 | a0006c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+1859T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090976 | |||||||
| chr1:145091228 | T | TA | 21 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 others(18): Show |
21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+1606dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145091228 | |||||||
| chr1:145091334 | G | C | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+1501C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145091334 | |||||||
| chr1:145091876 | A | G | 3 | a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 |
3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+959T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145091876 | |||||||
| chr1:145092137 | A | T | 1 | a0001c0001t0001g0006 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.67+698T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145092137 | |||||||
| chr1:145093679 | A | G | 4 | a0001c0001t0008g0005 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show |
4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.-542-236T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093679 | |||||||
| chr1:145093937 | G | A | 2 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-542-494C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093937 | |||||||
| chr1:145093960 | G | A | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-542-517C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093960 | |||||||
| chr1:145093974 | C | G | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-542-531G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093974 | |||||||
| chr1:145094292 | G | T | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.-542-849C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145094292 | |||||||
| chr1:145094547 | G | C | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-543+676C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145094547 | |||||||
| chr1:145094980 | A | G | 2 | a0001c0001t0002g0002 a0007c0007t0018g0001 |
2 | HG02615.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.-543+243T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145094980 |